Oral Metastasis of Metaplastic Breast Carcinoma in a Patient with Neurofibromatosis 1
Identifieur interne : 003C99 ( Pmc/Corpus ); précédent : 003C98; suivant : 003D00Oral Metastasis of Metaplastic Breast Carcinoma in a Patient with Neurofibromatosis 1
Auteurs : Ana Paula Molina Vivas ; Luana Eschholz Bomfin ; Clovis Antonio Lopes Pinto ; Ulisses Ribaldo Nicolau ; Fabio Abreu AlvesSource :
- Case Reports in Oncological Medicine [ 2090-6706 ] ; 2014.
Abstract
Neurofibromatosis type 1 (NF1) has been associated with an increased risk for development of malignancy, especially malignant peripheral nerve sheath tumors. In addition, recently, literature has demonstrated an increased risk of breast cancer in women with NF1. The present paper shows a 53-year-old woman with NF1 who presented with metaplastic breast carcinoma and developed multiple metastases, including mandible. Furthermore, we reviewed the English literature, found 63 cases showing the association between NF1 and breast cancer, and added one more case. The present study demonstrated an important association between NF1 and breast cancer. Until the present time, there has been only one case of metaplastic breast carcinoma associated with NF1. Curiously, in our case the oral metastasis corresponded to sarcomatous component of metaplastic breast carcinoma.
Url:
DOI: 10.1155/2014/719061
PubMed: 24876981
PubMed Central: 4021739
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Oral Metastasis of Metaplastic Breast Carcinoma in a Patient with Neurofibromatosis 1</title><author><name sortKey="Vivas, Ana Paula Molina" sort="Vivas, Ana Paula Molina" uniqKey="Vivas A" first="Ana Paula Molina" last="Vivas">Ana Paula Molina Vivas</name><affiliation><nlm:aff id="I1">Stomatology Department, A.C. Camargo Cancer Center, Rua Professor Antonio Prudente 211, 01509-900 São Paulo, SP, Brazil</nlm:aff></affiliation></author><author><name sortKey="Bomfin, Luana Eschholz" sort="Bomfin, Luana Eschholz" uniqKey="Bomfin L" first="Luana Eschholz" last="Bomfin">Luana Eschholz Bomfin</name><affiliation><nlm:aff id="I2">Stomatology Department, University of São Paulo, Avenida Professor Lineu Prestes 2227, 05508-000 São Paulo, SP, Brazil</nlm:aff></affiliation></author><author><name sortKey="Pinto, Clovis Antonio Lopes" sort="Pinto, Clovis Antonio Lopes" uniqKey="Pinto C" first="Clovis Antonio Lopes" last="Pinto">Clovis Antonio Lopes Pinto</name><affiliation><nlm:aff id="I3">Pathology Department, A.C. Camargo Cancer Center, Rua Professor Antonio Prudente 211, 01509-900 São Paulo, SP, Brazil</nlm:aff></affiliation></author><author><name sortKey="Nicolau, Ulisses Ribaldo" sort="Nicolau, Ulisses Ribaldo" uniqKey="Nicolau U" first="Ulisses Ribaldo" last="Nicolau">Ulisses Ribaldo Nicolau</name><affiliation><nlm:aff id="I4">Clinical Oncology Department, A.C. Camargo Cancer Center, Rua Professor Antonio Prudente 211, 01509-900 São Paulo, SP, Brazil</nlm:aff></affiliation></author><author><name sortKey="Alves, Fabio Abreu" sort="Alves, Fabio Abreu" uniqKey="Alves F" first="Fabio Abreu" last="Alves">Fabio Abreu Alves</name><affiliation><nlm:aff id="I1">Stomatology Department, A.C. Camargo Cancer Center, Rua Professor Antonio Prudente 211, 01509-900 São Paulo, SP, Brazil</nlm:aff></affiliation><affiliation><nlm:aff id="I2">Stomatology Department, University of São Paulo, Avenida Professor Lineu Prestes 2227, 05508-000 São Paulo, SP, Brazil</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24876981</idno><idno type="pmc">4021739</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021739</idno><idno type="RBID">PMC:4021739</idno><idno type="doi">10.1155/2014/719061</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">003C99</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003C99</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Oral Metastasis of Metaplastic Breast Carcinoma in a Patient with Neurofibromatosis 1</title><author><name sortKey="Vivas, Ana Paula Molina" sort="Vivas, Ana Paula Molina" uniqKey="Vivas A" first="Ana Paula Molina" last="Vivas">Ana Paula Molina Vivas</name><affiliation><nlm:aff id="I1">Stomatology Department, A.C. Camargo Cancer Center, Rua Professor Antonio Prudente 211, 01509-900 São Paulo, SP, Brazil</nlm:aff></affiliation></author><author><name sortKey="Bomfin, Luana Eschholz" sort="Bomfin, Luana Eschholz" uniqKey="Bomfin L" first="Luana Eschholz" last="Bomfin">Luana Eschholz Bomfin</name><affiliation><nlm:aff id="I2">Stomatology Department, University of São Paulo, Avenida Professor Lineu Prestes 2227, 05508-000 São Paulo, SP, Brazil</nlm:aff></affiliation></author><author><name sortKey="Pinto, Clovis Antonio Lopes" sort="Pinto, Clovis Antonio Lopes" uniqKey="Pinto C" first="Clovis Antonio Lopes" last="Pinto">Clovis Antonio Lopes Pinto</name><affiliation><nlm:aff id="I3">Pathology Department, A.C. Camargo Cancer Center, Rua Professor Antonio Prudente 211, 01509-900 São Paulo, SP, Brazil</nlm:aff></affiliation></author><author><name sortKey="Nicolau, Ulisses Ribaldo" sort="Nicolau, Ulisses Ribaldo" uniqKey="Nicolau U" first="Ulisses Ribaldo" last="Nicolau">Ulisses Ribaldo Nicolau</name><affiliation><nlm:aff id="I4">Clinical Oncology Department, A.C. Camargo Cancer Center, Rua Professor Antonio Prudente 211, 01509-900 São Paulo, SP, Brazil</nlm:aff></affiliation></author><author><name sortKey="Alves, Fabio Abreu" sort="Alves, Fabio Abreu" uniqKey="Alves F" first="Fabio Abreu" last="Alves">Fabio Abreu Alves</name><affiliation><nlm:aff id="I1">Stomatology Department, A.C. Camargo Cancer Center, Rua Professor Antonio Prudente 211, 01509-900 São Paulo, SP, Brazil</nlm:aff></affiliation><affiliation><nlm:aff id="I2">Stomatology Department, University of São Paulo, Avenida Professor Lineu Prestes 2227, 05508-000 São Paulo, SP, Brazil</nlm:aff></affiliation></author></analytic><series><title level="j">Case Reports in Oncological Medicine</title><idno type="ISSN">2090-6706</idno><idno type="eISSN">2090-6714</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Neurofibromatosis type 1 (NF1) has been associated with an increased risk for development of malignancy, especially malignant peripheral nerve sheath tumors. In addition, recently, literature has demonstrated an increased risk of breast cancer in women with NF1. The present paper shows a 53-year-old woman with NF1 who presented with metaplastic breast carcinoma and developed multiple metastases, including mandible. Furthermore, we reviewed the English literature, found 63 cases showing the association between NF1 and breast cancer, and added one more case. The present study demonstrated an important association between NF1 and breast cancer. Until the present time, there has been only one case of metaplastic breast carcinoma associated with NF1. 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<front><journal-meta><journal-id journal-id-type="nlm-ta">Case Rep Oncol Med</journal-id><journal-id journal-id-type="iso-abbrev">Case Rep Oncol Med</journal-id><journal-id journal-id-type="publisher-id">CRIONM</journal-id><journal-title-group><journal-title>Case Reports in Oncological Medicine</journal-title></journal-title-group><issn pub-type="ppub">2090-6706</issn><issn pub-type="epub">2090-6714</issn><publisher><publisher-name>Hindawi Publishing Corporation</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">24876981</article-id><article-id pub-id-type="pmc">4021739</article-id><article-id pub-id-type="doi">10.1155/2014/719061</article-id><article-categories><subj-group subj-group-type="heading"><subject>Case Report</subject></subj-group></article-categories><title-group><article-title>Oral Metastasis of Metaplastic Breast Carcinoma in a Patient with Neurofibromatosis 1</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Vivas</surname><given-names>Ana Paula Molina</given-names></name><xref ref-type="aff" rid="I1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Bomfin</surname><given-names>Luana Eschholz</given-names></name><xref ref-type="aff" rid="I2"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Pinto</surname><given-names>Clovis Antonio Lopes</given-names></name><xref ref-type="aff" rid="I3"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Nicolau</surname><given-names>Ulisses Ribaldo</given-names></name><xref ref-type="aff" rid="I4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Alves</surname><given-names>Fabio Abreu</given-names></name><xref ref-type="aff" rid="I1"><sup>1</sup></xref><xref ref-type="aff" rid="I2"><sup>2</sup></xref><xref ref-type="corresp" rid="cor1">*</xref></contrib></contrib-group><aff id="I1"><sup>1</sup>Stomatology Department, A.C. Camargo Cancer Center, Rua Professor Antonio Prudente 211, 01509-900 São Paulo, SP, Brazil</aff><aff id="I2"><sup>2</sup>Stomatology Department, University of São Paulo, Avenida Professor Lineu Prestes 2227, 05508-000 São Paulo, SP, Brazil</aff><aff id="I3"><sup>3</sup>Pathology Department, A.C. Camargo Cancer Center, Rua Professor Antonio Prudente 211, 01509-900 São Paulo, SP, Brazil</aff><aff id="I4"><sup>4</sup>Clinical Oncology Department, A.C. Camargo Cancer Center, Rua Professor Antonio Prudente 211, 01509-900 São Paulo, SP, Brazil</aff><author-notes><corresp id="cor1">*Fabio Abreu Alves: <email>falves@accamargo.org.br</email></corresp><fn fn-type="other"><p>Academic Editor: Ossama W. Tawfik</p></fn></author-notes><pub-date pub-type="ppub"><year>2014</year></pub-date><pub-date pub-type="epub"><day>30</day><month>4</month><year>2014</year></pub-date><volume>2014</volume><elocation-id>719061</elocation-id><history><date date-type="received"><day>25</day><month>2</month><year>2014</year></date><date date-type="accepted"><day>9</day><month>4</month><year>2014</year></date></history><permissions><copyright-statement>Copyright © 2014 Ana Paula Molina Vivas et al.</copyright-statement><copyright-year>2014</copyright-year><license xlink:href="https://creativecommons.org/licenses/by/3.0/"><license-p>This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p></license></permissions><abstract><p>Neurofibromatosis type 1 (NF1) has been associated with an increased risk for development of malignancy, especially malignant peripheral nerve sheath tumors. In addition, recently, literature has demonstrated an increased risk of breast cancer in women with NF1. The present paper shows a 53-year-old woman with NF1 who presented with metaplastic breast carcinoma and developed multiple metastases, including mandible. Furthermore, we reviewed the English literature, found 63 cases showing the association between NF1 and breast cancer, and added one more case. The present study demonstrated an important association between NF1 and breast cancer. Until the present time, there has been only one case of metaplastic breast carcinoma associated with NF1. Curiously, in our case the oral metastasis corresponded to sarcomatous component of metaplastic breast carcinoma.</p></abstract></article-meta></front><body><sec id="sec1"><title>1. Introduction</title><p>Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder with a prevalence of 1 in 3500 people. This fully penetrant condition is characterized by multiple café au lait spots, axillary and inguinal freckling, cutaneous neurofibromas, and iris Lisch nodules [<xref rid="B1" ref-type="bibr">1</xref>, <xref rid="B2" ref-type="bibr">2</xref>]. Less common manifestations include plexiform neurofibromas, optic nerve, and other central nervous system gliomas, scoliosis, tibial dysplasia, and vasculopathy. Additionally, patients with NF1 have increased relative risk of developing malignant peripheral nerve sheath tumors, leukemia, rhabdomyosarcoma, gastrointestinal stromal tumors, phaeochromocytoma, and breast cancer [<xref rid="B3" ref-type="bibr">3</xref>–<xref rid="B8" ref-type="bibr">8</xref>].</p><p>Metaplastic breast carcinoma (MBC) is uncommon, accounting for less than 5% of breast carcinoma [<xref rid="B9" ref-type="bibr">9</xref>]. This tumor consists of a heterogeneous group of malignancies which may correspond to mixed epithelial and sarcomatoid components, as well as primary squamous cell carcinoma, or mixed adenocarcinoma and squamous cell carcinoma [<xref rid="B10" ref-type="bibr">10</xref>]. Interestingly, there is only one case of MBC affecting a NF1 patient previously reported in the English literature [<xref rid="B11" ref-type="bibr">11</xref>].</p><p>The present study presents a rare case of a patient with NF1 who developed MBC, which metastasized to oral cavity. In addition, the importance of investigating breast tumors in NF1 patients is emphasized.</p></sec><sec id="sec2"><title>2. Case Report</title><p>A 53-year-old woman was referred to the Stomatology Department, complaining of teeth mobility and a swelling in her mouth with 10 days of evolution. During the anamnesis, the patient denied any alcohol consumption and related that she had smoked for 18 years and quit 4 years ago. Her medical history included NF1 and left mastectomy 20 days previously due to metaplastic carcinoma.</p><p>On physical examination, the patient had multiple café au lait macules and cutaneous neurofibromas located on cervical, dorsal, abdominal, and upper members (Figures <xref ref-type="fig" rid="fig1">1(a)</xref> and <xref ref-type="fig" rid="fig1">1(b)</xref>). The intraoral examination revealed a large mass with necrotic surface in the left retromolar area, measuring approximately 5 centimeters, which caused important trismus (<xref ref-type="fig" rid="fig1">Figure 1(c)</xref>). The main diagnostic hypothesis was metastasis of MBC. In addition, under local anesthesia, the patient underwent incisional biopsy.</p><p>The histopathological analysis of the oral cavity lesion revealed a malignant neoplasia with spindle cell pattern and areas with osteoclast-like cells (Figures <xref ref-type="fig" rid="fig2">2(a)</xref> and <xref ref-type="fig" rid="fig2">2(b)</xref>) suggestive of metastasis of MBC. Subsequently, the specimens of mastectomy were reviewed. The epithelial component of breast tumor exhibited areas of<italic> in situ</italic> (<xref ref-type="fig" rid="fig2">Figure 2(c)</xref>) and invasive ductal carcinoma (<xref ref-type="fig" rid="fig2">Figure 2(d)</xref>) and also areas with squamous differentiation. However, the major part of the tumor was composed of a sarcomatoid component with areas of hemangiopericytic pattern (<xref ref-type="fig" rid="fig2">Figure 2(e)</xref>) and others with osteoclast-like cells (<xref ref-type="fig" rid="fig2">Figure 2(f)</xref>).</p><p>On immunohistochemical analysis, the breast tumor cells (<xref ref-type="table" rid="tab1">Table 1</xref>) were negative for estrogen and progesterone receptors and c-Erb-B2 was only positive in carcinoma<italic> in situ</italic> area. Vimentin was positive in the sarcomatous component, while cytokeratin AE1/AE3 and p63 were seen in few cells of the same component. Furthermore, S-100 and smooth muscle actin were positive in focal areas and CD68 was positive in osteoclast-like areas. A strong nuclear positivity was found against p53 and Ki-67 antibodies (<xref ref-type="fig" rid="fig3">Figure 3</xref>). The immunohistochemical analysis of the mandibular biopsy specimen (<xref ref-type="table" rid="tab1">Table 1</xref>) showed similar findings to those of the breast tumor, except for total negativity of p63 and S-100. Considering the clinical, histopathological, and immunohistochemical features, the diagnosis of oral metastasis of the sarcomatous component of MBC was confirmed.</p><p>The patient was referred to the Department of Clinical Oncology for evaluation. Computed tomography showed multiple lung and liver nodules and osteolytic lesion on the second costal arch. Moreover, all lesions were strongly suggestive of metastases. Chemotherapy with doxorubicin and ifosfamide was started but was interrupted due to pancytopenia. There was progression of the disease and the patient died 75 days after the diagnosis of oral metastasis.</p></sec><sec id="sec3"><title>3. Discussion</title><p>NF1 has been associated with cancer predisposition. The most common tumors are gliomas, malignant peripheral nerve sheath tumors, leukemia, and rhabdomyosarcoma [<xref rid="B3" ref-type="bibr">3</xref>, <xref rid="B12" ref-type="bibr">20</xref>]. Although Brasfield and Das Gupta [<xref rid="B13" ref-type="bibr">12</xref>] reported in the 70s that 5 out of 54 women with NF1 developed breast carcinoma, only recently this association was recognized. Considering that breast cancer is already a common tumor in women, it would be difficult to know whether the coexistence of NF1 and breast cancer is a coincidence or a real predisposition. Sharif et al. [<xref rid="B5" ref-type="bibr">5</xref>] evaluated 304 women with NF1 and 14 had breast cancer (11 with infiltrating ductal carcinoma and 3 with infiltrating lobular carcinoma). Interestingly, these women had an early age of onset of breast cancer, with a median age of diagnosis of 44 years. Recently, Madanikia et al. [<xref rid="B6" ref-type="bibr">6</xref>] reviewed charts of 124 women with NF1 who were 20 years old or older and found 4 cases of breast cancer. Wang et al. [<xref rid="B7" ref-type="bibr">7</xref>] found 11 cases of breast cancer among a cohort of 76 women with NF1. Seminog and Goldacre [<xref rid="B8" ref-type="bibr">8</xref>] also showed a high risk of breast cancer, especially a threefold risk in women under 50. All these studies agree that women with NF1 are at higher risk for breast cancer than the general population, particularly when they are younger than 50 years old. Furthermore, these patients may have a delay in diagnosis since breast tumors may be misdiagnosed as NF1 manifestations [<xref rid="B15" ref-type="bibr">16</xref>, <xref rid="B14" ref-type="bibr">17</xref>, <xref rid="B16" ref-type="bibr">27</xref>]. In the present case, a 53-year-old woman with NF1 presented with a very aggressive breast cancer which metastasized to mandible, ribs, lung, and liver. Interestingly, on anamnesis, the patient related that she had undergone a mastectomy 20 days before, but she was being investigated due to breast nodule for 7 months.</p><p>We reviewed the English language literature and found 63 patients with NF1 who developed breast malignant tumors. Furthermore, most cases were ductal invasive carcinoma and less commonly lobular carcinoma (<xref ref-type="table" rid="tab2">Table 2</xref>) [<xref rid="B5" ref-type="bibr">5</xref>–<xref rid="B7" ref-type="bibr">7</xref>, <xref rid="B11" ref-type="bibr">11</xref>–<xref rid="B31" ref-type="bibr">31</xref>]. Interestingly, we found one well-documented case of MBC (carcinosarcoma) [<xref rid="B11" ref-type="bibr">11</xref>]. In the present case, the patient presented with metaplastic carcinoma with very scarce epithelial component, with the major part of the tumor composed of a sarcomatoid component. The oral lesion was exclusively formed by sarcomatoid fraction.</p><p>Metaplastic carcinoma is a very rare type of breast cancer, which accounts for less than 5% of breast carcinomas [<xref rid="B9" ref-type="bibr">9</xref>]. It is a poorly differentiated tumor characterized by coexistence of adenocarcinoma with areas of matrix producing, spindle-cell, sarcomatous, and/or squamous differentiation. The present case showed wide undifferentiated spindle cell elements; areas of hemangiopericytic pattern and abundant osteoclast-like cells were also observed. In contrast, the epithelial component was the minor part formed by invasive ductal carcinoma and carcinoma<italic> in situ</italic>. In addition, overexpression of c-Erb-B2 in metaplastic carcinoma is rare (4%), while estrogen and progesterone receptors are frequently negative. Consequently, this tumor is usually referred to as “triple negative” [<xref rid="B32" ref-type="bibr">32</xref>, <xref rid="B33" ref-type="bibr">33</xref>]. Similar to most cases previously reported in the literature, the present case exhibited a triple-negative immunoprofile and also had a high histological grade, which caused many anomalous immunoexpressions, such as focal positivity to SMA, S-100 antibodies, and coexpression of vimentin and CK AE1/AE3 (1% of the cells) in the sarcomatous component. In addition, p53 and Ki-67 markers showed high proliferative rate in both breast and mandible tumors (<xref ref-type="table" rid="tab1">Table 1</xref>; Figures <xref ref-type="fig" rid="fig2">2</xref> and <xref ref-type="fig" rid="fig3">3</xref>).</p><p>Metastatic lesions comprise 1% of all oral cavity malignancies and usually represent the evidence of wide spread disease. According to the review of Hirshberg et al. [<xref rid="B34" ref-type="bibr">34</xref>] the most common primary sites for oral metastases in women are breast, female genital organs, kidney, and colorectum, while in men they are lung, kidney, liver, and prostate. Still, this review showed that the mandibular bone is more frequently affected than the oral soft tissues in a proportion of 2 : 1, with the mandible being the most common location and the molar area the most frequently involved. In our case, we believe that the oral metastasis occurred in the gingiva, since there was rapid growth of the necrotic lesion and absence of specific symptoms such as pain and paresthesia. In addition, computerized tomography showed only a tumor mass emerging from the mandible without significant bone involvement. Other clinical findings of our patient included lung, bone, and liver metastases, which are the main sites of metastatic MBC [<xref rid="B35" ref-type="bibr">35</xref>]. Similar to our case, McMillan and Edwards [<xref rid="B17" ref-type="bibr">13</xref>] reported a case of bilateral mandibular metastases of breast carcinoma in a 41-year-old woman with NF1. It is noteworthy that the patient was only 27 years of age when she underwent a right radical mastectomy for removal of a breast carcinoma. Differently from our case, the oral lesion presented as a lump on the right jaw with an intact mucosa covering and the authors believed that the initial site of localization was within the bone.</p><p>Despite the follow-up of patients with NF1 and breast cancer, the literature data are not clear. Brasfield and Das Gupta [<xref rid="B13" ref-type="bibr">12</xref>] observed that all 5 patients died within 5 years of the diagnosis of breast cancer. This fact led them to question whether neurofibromatosis could influence the prognosis of patients with cancer. Nevertheless, some authors correlated the poor prognosis with late diagnosis since breast tumors may be misdiagnosed as NF1 manifestations as commented before [<xref rid="B15" ref-type="bibr">16</xref>, <xref rid="B14" ref-type="bibr">17</xref>, <xref rid="B16" ref-type="bibr">27</xref>]. Considering the 64 patients, information about follow-up was found in 36 patients. Of these, 17 are alive, 16 dead of breast cancer, and 3 dead due to other causes (<xref ref-type="table" rid="tab2">Table 2</xref>).</p><p>In summary, since breast cancer has been associated in the literature with NF1, affected patients require screening for breast tumors. Thereby, early identification of breast cancer is important for appropriate management and better prognosis of the disease. 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(b) Upper member with cutaneous neurofibromas. (c) Intraoral view showing an extensive tumor with necrotic surface located on the left retromolar area.</p></caption><graphic xlink:href="CRIONM2014-719061.001"></graphic></fig><fig id="fig2" orientation="portrait" position="float"><label>Figure 2</label><caption><p>(a) Histological findings of malignant neoplasia of the oral cavity, showing atypical spindle cells with a storiform arrangement (H&E stain, ×40). (b) Areas with osteoclast-like cells (H&E stain, ×400). (c) Histological findings of metaplastic breast carcinoma with carcinoma<italic> in situ</italic> area beside the sarcomatous component (H&E, ×100). (d) Invasive ductal carcinoma (H&E, ×40). (e) Sarcomatoid pattern with hemangiopericytic area (H&E, ×40). (f) Sarcomatoid component with osteoclast-like cells (H&E, ×200).</p></caption><graphic xlink:href="CRIONM2014-719061.002"></graphic></fig><fig id="fig3" orientation="portrait" position="float"><label>Figure 3</label><caption><p>Immunoreactivity of metaplastic carcinoma. (a) Strong immunoreactivity for vimentin in the sarcomatous component. (b) Immunoreactivity for cytokeratin AE1/AE3 is present in few cells of the sarcomatous component. (c) Reactivity for smooth muscle actin in focal area. (d) Immunoreactivity for CD68 in osteoclast-like cells. (e) Nuclear immunoreactivity for Ki-67. (f) Expression of p53 (polymer-HRP detection system, biotin-free).</p></caption><graphic xlink:href="CRIONM2014-719061.003"></graphic></fig><table-wrap id="tab1" orientation="portrait" position="float"><label>Table 1</label><caption><p>Immunohistochemical features observed in both carcinoma and sarcomatoid components and in both breast and mandibular tumors.</p></caption><table frame="hsides" rules="groups"><thead><tr><th align="left" rowspan="2" colspan="1">Antibody</th><th align="center" rowspan="2" colspan="1">Clone</th><th align="center" colspan="2" rowspan="1">Breast Cancer</th><th align="center" rowspan="2" colspan="1">Oral metastasis</th></tr><tr><th align="center" rowspan="1" colspan="1">Carcinoma</th><th align="center" rowspan="1" colspan="1">Sarcomatous</th></tr></thead><tbody><tr><td align="left" rowspan="1" colspan="1">ER</td><td align="center" rowspan="1" colspan="1">SP1—DAKO</td><td align="center" rowspan="1" colspan="1">−</td><td align="center" rowspan="1" colspan="1">−</td><td align="center" rowspan="1" colspan="1">−</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">PR</td><td align="center" rowspan="1" colspan="1">PgR636—DAKO</td><td align="center" rowspan="1" colspan="1">−</td><td align="center" rowspan="1" colspan="1">−</td><td align="center" rowspan="1" colspan="1">−</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="2" colspan="1">C-erbB-e</td><td align="center" rowspan="2" colspan="1">Polyclonal—DAKO</td><td align="center" rowspan="1" colspan="1">(1+) invasive carcinoma</td><td align="center" rowspan="1" colspan="1">−</td><td align="center" rowspan="1" colspan="1">−</td></tr><tr><td align="center" rowspan="1" colspan="1">(3+) carcinoma <italic>in situ </italic></td><td align="center" rowspan="1" colspan="1">(0)</td><td align="center" rowspan="1" colspan="1">(0)</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">CK5</td><td align="center" rowspan="1" colspan="1">XM26 (mouse)—Neomarkers</td><td align="center" rowspan="1" colspan="1">−</td><td align="center" rowspan="1" colspan="1">−</td><td align="center" rowspan="1" colspan="1">−</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">CK14</td><td align="center" rowspan="1" colspan="1">LL002 (mouse)—Thermo Scientific</td><td align="center" rowspan="1" colspan="1">+ carcinoma <italic>in situ </italic></td><td align="center" rowspan="1" colspan="1">−</td><td align="center" rowspan="1" colspan="1">−</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="2" colspan="1">CKAE1/AE3</td><td align="center" rowspan="2" colspan="1">AE1-AE3—DAKO</td><td align="center" rowspan="2" colspan="1">+</td><td align="center" rowspan="1" colspan="1">+</td><td align="center" rowspan="1" colspan="1">+</td></tr><tr><td align="center" rowspan="1" colspan="1">1% neoplastic cells</td><td align="center" rowspan="1" colspan="1">1% neoplastic cells</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="2" colspan="1">p63</td><td align="center" rowspan="2" colspan="1">4A4—DAKO</td><td align="center" rowspan="2" colspan="1">−</td><td align="center" rowspan="1" colspan="1">+</td><td align="center" rowspan="2" colspan="1">−</td></tr><tr><td align="center" rowspan="1" colspan="1">10% neoplastic cells</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="2" colspan="1">p53</td><td align="center" rowspan="2" colspan="1">D0-7—DAKO</td><td align="center" rowspan="1" colspan="1">+</td><td align="center" rowspan="1" colspan="1">+</td><td align="center" rowspan="1" colspan="1">+</td></tr><tr><td align="center" rowspan="1" colspan="1">20% neoplastic cells</td><td align="center" rowspan="1" colspan="1">40% neoplastic cells</td><td align="center" rowspan="1" colspan="1">80% neoplastic cells</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="2" colspan="1">Ki-67</td><td align="center" rowspan="2" colspan="1">MIB-1—DAKO</td><td align="center" rowspan="1" colspan="1">Proliferative activity</td><td align="center" rowspan="1" colspan="1">Proliferative activity</td><td align="center" rowspan="1" colspan="1">Proliferative activity</td></tr><tr><td align="center" rowspan="1" colspan="1">50%</td><td align="center" rowspan="1" colspan="1">80%</td><td align="center" rowspan="1" colspan="1">90%</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Vimentin</td><td align="center" rowspan="1" colspan="1">V9—DAKO</td><td align="center" rowspan="1" colspan="1">−</td><td align="center" rowspan="1" colspan="1">+</td><td align="center" rowspan="1" colspan="1">+</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">SMA</td><td align="center" rowspan="1" colspan="1">1A4—DAKO</td><td align="center" rowspan="1" colspan="1">−</td><td align="center" rowspan="1" colspan="1">+ focal areas</td><td align="center" rowspan="1" colspan="1">+ focal areas</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Desmin</td><td align="center" rowspan="1" colspan="1">D33—DAKO</td><td align="center" rowspan="1" colspan="1">−</td><td align="center" rowspan="1" colspan="1">−</td><td align="center" rowspan="1" colspan="1">−</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Myogenin</td><td align="center" rowspan="1" colspan="1">F5D—DAKO</td><td align="center" rowspan="1" colspan="1">−</td><td align="center" rowspan="1" colspan="1">−</td><td align="center" rowspan="1" colspan="1">−</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Myo-D1</td><td align="center" rowspan="1" colspan="1">5.8A—DAKO</td><td align="center" rowspan="1" colspan="1">−</td><td align="center" rowspan="1" colspan="1">−</td><td align="center" rowspan="1" colspan="1">−</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">S-100</td><td align="center" rowspan="1" colspan="1">Polyclonal—DAKO</td><td align="center" rowspan="1" colspan="1">−</td><td align="center" rowspan="1" colspan="1">+ focal areas</td><td align="center" rowspan="1" colspan="1">−</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">CD68</td><td align="center" rowspan="1" colspan="1">KP1—DAKO</td><td align="center" rowspan="1" colspan="1">−</td><td align="center" rowspan="1" colspan="1">+ osteoclast-like cells</td><td align="center" rowspan="1" colspan="1">+ osteoclast-like cells</td></tr></tbody></table><table-wrap-foot><fn><p>ER: estrogen receptor; PR: progesterone receptor; CK: cytokeratin; SMA: smooth muscle actin.</p></fn></table-wrap-foot></table-wrap><table-wrap id="tab2" orientation="portrait" position="float"><label>Table 2</label><caption><p>Total of patients with NF1 who developed breast carcinoma considering only English language literature.</p></caption><table frame="hsides" rules="groups"><thead><tr><th align="left" rowspan="1" colspan="1">Authors</th><th align="center" rowspan="1" colspan="1"><italic>N</italic></th><th align="center" rowspan="1" colspan="1">Breast cancer subtype</th><th align="center" rowspan="1" colspan="1">Age (years)</th><th align="center" rowspan="1" colspan="1">Follow-up (months)</th></tr></thead><tbody><tr><td align="left" rowspan="1" colspan="1">Brasfield and Das Gupta [<xref rid="B13" ref-type="bibr">12</xref>]</td><td align="center" rowspan="1" colspan="1">5</td><td align="center" rowspan="1" colspan="1">Breast carcinoma*</td><td align="center" rowspan="1" colspan="1">1 patient 39, the others not informed</td><td align="center" rowspan="1" colspan="1">All dead within 60</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">McMillan and Edwards [<xref rid="B17" ref-type="bibr">13</xref>]</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">Spheroidal-cell carcinoma</td><td align="center" rowspan="1" colspan="1">27</td><td align="center" rowspan="1" colspan="1">Dead, 168</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">El-Zawahry et al. [<xref rid="B18" ref-type="bibr">14</xref>]</td><td align="center" rowspan="1" colspan="1">2</td><td align="center" rowspan="1" colspan="1">Lobular carcinoma<break></break>Breast carcinoma*</td><td align="center" rowspan="1" colspan="1">40<break></break>70</td><td align="center" rowspan="1" colspan="1">Not informed</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Zöller et al. [<xref rid="B19" ref-type="bibr">15</xref>]</td><td align="center" rowspan="1" colspan="1">2</td><td align="center" rowspan="1" colspan="1">Ductal carcinoma<break></break>Ductal carcinoma</td><td align="center" rowspan="1" colspan="1">38<break></break>66</td><td align="center" rowspan="1" colspan="1">Dead 36<break></break>Dead 24</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Nakamura et al. [<xref rid="B15" ref-type="bibr">16</xref>]</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">Scirrhous carcinoma</td><td align="center" rowspan="1" colspan="1">49</td><td align="center" rowspan="1" colspan="1">Dead 5</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Murayama et al. [<xref rid="B14" ref-type="bibr">17</xref>]</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">Ductal carcinoma</td><td align="center" rowspan="1" colspan="1">66</td><td align="center" rowspan="1" colspan="1">Alive 8</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Ceccaroni et al. [<xref rid="B20" ref-type="bibr">18</xref>]</td><td align="center" rowspan="1" colspan="1">2</td><td align="center" rowspan="1" colspan="1">Breast carcinoma* <break></break>Breast carcinoma*</td><td align="center" rowspan="1" colspan="1">52<break></break>66</td><td align="center" rowspan="1" colspan="1">Not informed</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Satgé et al. [<xref rid="B21" ref-type="bibr">19</xref>]</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">Ductal carcinoma</td><td align="center" rowspan="1" colspan="1">23</td><td align="center" rowspan="1" colspan="1">Alive 168</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Güran and Safali [<xref rid="B12" ref-type="bibr">20</xref>]</td><td align="center" rowspan="1" colspan="1">2</td><td align="center" rowspan="1" colspan="1">Ductal carcinoma<break></break>Ductal carcinoma</td><td align="center" rowspan="1" colspan="1">23<break></break>58</td><td align="center" rowspan="1" colspan="1">Not informed</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Posada and Chakmakjian [<xref rid="B22" ref-type="bibr">21</xref>]</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">Lobular carcinoma</td><td align="center" rowspan="1" colspan="1">74</td><td align="center" rowspan="1" colspan="1">Alive 36</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Walker et al. [<xref rid="B23" ref-type="bibr">22</xref>]</td><td align="center" rowspan="1" colspan="1">5</td><td align="center" rowspan="1" colspan="1">4 ductal carcinoma<break></break>1 lobular carcinoma</td><td align="center" rowspan="1" colspan="1">Mean age 46.4</td><td align="center" rowspan="1" colspan="1">Not informed</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Natsiopoulos et al. [<xref rid="B11" ref-type="bibr">11</xref>]</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">Metaplastic carcinoma</td><td align="center" rowspan="1" colspan="1">60</td><td align="center" rowspan="1" colspan="1">Alive 30</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Sharif et al. [<xref rid="B5" ref-type="bibr">5</xref>]</td><td align="center" rowspan="1" colspan="1">14</td><td align="center" rowspan="1" colspan="1">11 ductal carcinoma<break></break>3 lobular carcinoma</td><td align="center" rowspan="1" colspan="1">Mean age 43.5</td><td align="center" rowspan="1" colspan="1">5 died mean 66<break></break>3 died other causes<break></break>6 alive mean 54</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Hasson et al. [<xref rid="B24" ref-type="bibr">23</xref>]</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">Ductal carcinoma</td><td align="center" rowspan="1" colspan="1">49</td><td align="center" rowspan="1" colspan="1">Not informed</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Invernizzi et al. [<xref rid="B25" ref-type="bibr">24</xref>]</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">Ductal carcinoma</td><td align="center" rowspan="1" colspan="1">60</td><td align="center" rowspan="1" colspan="1">Alive 36</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Alamsamimi et al. [<xref rid="B26" ref-type="bibr">25</xref>]</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">Ductal carcinoma</td><td align="center" rowspan="1" colspan="1">51</td><td align="center" rowspan="1" colspan="1">Alive 24</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Hegyi et al. [<xref rid="B27" ref-type="bibr">26</xref>]</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">Malignant myoepithelioma</td><td align="center" rowspan="1" colspan="1">41</td><td align="center" rowspan="1" colspan="1">Not informed</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Salemis et al. [<xref rid="B16" ref-type="bibr">27</xref>]</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">Ductal carcinoma</td><td align="center" rowspan="1" colspan="1">59</td><td align="center" rowspan="1" colspan="1">Alive 20</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Bhargava et al. [<xref rid="B28" ref-type="bibr">28</xref>]</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">Ductal carcinoma</td><td align="center" rowspan="1" colspan="1">58</td><td align="center" rowspan="1" colspan="1">Alive 13</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Takeuchi et al. [<xref rid="B29" ref-type="bibr">29</xref>]</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">Ductal and lobular carcinoma</td><td align="center" rowspan="1" colspan="1">69</td><td align="center" rowspan="1" colspan="1">Alive 6</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Zhou et al. [<xref rid="B30" ref-type="bibr">30</xref>]</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">Ductal carcinoma</td><td align="center" rowspan="1" colspan="1">48</td><td align="center" rowspan="1" colspan="1">Alive 8</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Madanikia et al. [<xref rid="B6" ref-type="bibr">6</xref>]</td><td align="center" rowspan="1" colspan="1">4</td><td align="center" rowspan="1" colspan="1">3 ductal carcinoma<break></break>1 unknown</td><td align="center" rowspan="1" colspan="1">Not informed</td><td align="center" rowspan="1" colspan="1">Not informed</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Wang et al. [<xref rid="B7" ref-type="bibr">7</xref>]</td><td align="center" rowspan="1" colspan="1">11</td><td align="center" rowspan="1" colspan="1">10 ductal carcinoma<break></break>1 lobular and ductal carcinoma</td><td align="center" rowspan="1" colspan="1">Mean age 48.8</td><td align="center" rowspan="1" colspan="1">Not informed</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Campos et al. [<xref rid="B31" ref-type="bibr">31</xref>]</td><td align="center" rowspan="1" colspan="1">2</td><td align="center" rowspan="1" colspan="1">Breast carcinoma* <break></break>Ductal carcinoma</td><td align="center" rowspan="1" colspan="1">40 <break></break>35</td><td align="center" rowspan="1" colspan="1">Dead <break></break>Alive 24</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Present case</td><td align="center" rowspan="1" colspan="1">1</td><td align="center" rowspan="1" colspan="1">Metaplastic carcinoma</td><td align="center" rowspan="1" colspan="1">53</td><td align="center" rowspan="1" colspan="1">Dead 3</td></tr><tr><td align="left" colspan="5" rowspan="1"><hr></hr></td></tr><tr><td align="left" rowspan="1" colspan="1">Total</td><td align="center" rowspan="1" colspan="1"><bold>64</bold></td><td align="center" rowspan="1" colspan="1"> </td><td align="center" rowspan="1" colspan="1"> </td><td align="center" rowspan="1" colspan="1"> </td></tr></tbody></table><table-wrap-foot><fn><p>*Subtype not informed.</p></fn></table-wrap-foot></table-wrap></floats-group></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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