Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature.
Identifieur interne : 001540 ( PubMed/Curation ); précédent : 001539; suivant : 001541Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature.
Auteurs : Juehua Gao [États-Unis] ; Ryan D. Gentzler ; Andrew E. Timms ; Marshall S. Horwitz ; Olga Frankfurt ; Jessica K. Altman ; Loann C. PetersonSource :
- Journal of hematology & oncology [ 1756-8722 ] ; 2014.
Descripteurs français
- KwdFr :
- MESH :
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : GATA2 Transcription Factor.
- genetics : Leukemia, Myeloid, Myelodysplastic Syndromes.
- Acute Disease, Base Sequence, DNA Mutational Analysis, Family Health, Female, Heterozygote, Humans, Karyotyping, Middle Aged, Mutation, Missense.
Abstract
A 50-year-old woman was diagnosed with acute myeloid leukemia (AML). She has history of thrombocytopenia for 25 years and a significant family history of thrombocytopenia, affecting her mother, siblings and their children, as well as her own children. Both her mother and maternal aunt died from myelodysplastic syndrome (MDS). Additional genetic analysis was performed and identified two heterozygous missence mutations in the second zinc finger domain of GATA2 gene (p.Thr358Lys, and p.Leu359Val), occurring in cis on the same allele. Given the patient's family history and clinical manifestation, this was interpreted as an acute myeloid leukemia with heritable GATA2 mutations associated with familial AML-MDS. Germline GATA2 mutations are involved in a group of complex syndromes with overlapping clinical features of immune deficiency, lymphedema and propensity to acute myeloid leukemia or myelodysplastic syndrome (AML-MDS). Here we reported a case of familial AML-MDS with two novel GATA2 mutations. This case illustrates the importance of recognizing the clinical features for this rare category of AML-MDS and performing the appropriate molecular testing. The diagnosis of heritable gene mutations associated familial AML-MDS has significant clinical implication for the patients and affected families. Clinical trials are available to further investigate the role of allogeneic hematopoietic stem cell transplant in managing these patients.
DOI: 10.1186/1756-8722-7-36
PubMed: 24754962
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Gentzler</name></author><author><name sortKey="Timms, Andrew E" sort="Timms, Andrew E" uniqKey="Timms A" first="Andrew E" last="Timms">Andrew E. Timms</name></author><author><name sortKey="Horwitz, Marshall S" sort="Horwitz, Marshall S" uniqKey="Horwitz M" first="Marshall S" last="Horwitz">Marshall S. Horwitz</name></author><author><name sortKey="Frankfurt, Olga" sort="Frankfurt, Olga" uniqKey="Frankfurt O" first="Olga" last="Frankfurt">Olga Frankfurt</name></author><author><name sortKey="Altman, Jessica K" sort="Altman, Jessica K" uniqKey="Altman J" first="Jessica K" last="Altman">Jessica K. Altman</name></author><author><name sortKey="Peterson, Loann C" sort="Peterson, Loann C" uniqKey="Peterson L" first="Loann C" last="Peterson">Loann C. Peterson</name></author></analytic><series><title level="j">Journal of hematology & oncology</title><idno type="eISSN">1756-8722</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Acute Disease</term><term>Base Sequence</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>GATA2 Transcription Factor (genetics)</term><term>Heterozygote</term><term>Humans</term><term>Karyotyping</term><term>Leukemia, Myeloid (genetics)</term><term>Middle Aged</term><term>Mutation, Missense</term><term>Myelodysplastic Syndromes (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte d'âge moyen</term><term>Analyse de mutations d'ADN</term><term>Caryotypage</term><term>Facteur de transcription GATA-2 (génétique)</term><term>Femelle</term><term>Humains</term><term>Hétérozygote</term><term>Leucémie myéloïde (génétique)</term><term>Maladie aigüe</term><term>Mutation faux-sens</term><term>Santé de la famille</term><term>Syndromes myélodysplasiques (génétique)</term><term>Séquence nucléotidique</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>GATA2 Transcription Factor</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Leukemia, Myeloid</term><term>Myelodysplastic Syndromes</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Facteur de transcription GATA-2</term><term>Leucémie myéloïde</term><term>Syndromes myélodysplasiques</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Acute Disease</term><term>Base Sequence</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>Heterozygote</term><term>Humans</term><term>Karyotyping</term><term>Middle Aged</term><term>Mutation, Missense</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte d'âge moyen</term><term>Analyse de mutations d'ADN</term><term>Caryotypage</term><term>Femelle</term><term>Humains</term><term>Hétérozygote</term><term>Maladie aigüe</term><term>Mutation faux-sens</term><term>Santé de la famille</term><term>Séquence nucléotidique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A 50-year-old woman was diagnosed with acute myeloid leukemia (AML). She has history of thrombocytopenia for 25 years and a significant family history of thrombocytopenia, affecting her mother, siblings and their children, as well as her own children. Both her mother and maternal aunt died from myelodysplastic syndrome (MDS). Additional genetic analysis was performed and identified two heterozygous missence mutations in the second zinc finger domain of GATA2 gene (p.Thr358Lys, and p.Leu359Val), occurring in cis on the same allele. Given the patient's family history and clinical manifestation, this was interpreted as an acute myeloid leukemia with heritable GATA2 mutations associated with familial AML-MDS. Germline GATA2 mutations are involved in a group of complex syndromes with overlapping clinical features of immune deficiency, lymphedema and propensity to acute myeloid leukemia or myelodysplastic syndrome (AML-MDS). Here we reported a case of familial AML-MDS with two novel GATA2 mutations. This case illustrates the importance of recognizing the clinical features for this rare category of AML-MDS and performing the appropriate molecular testing. The diagnosis of heritable gene mutations associated familial AML-MDS has significant clinical implication for the patients and affected families. Clinical trials are available to further investigate the role of allogeneic hematopoietic stem cell transplant in managing these patients.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">24754962</PMID><DateCreated><Year>2014</Year><Month>06</Month><Day>03</Day></DateCreated><DateCompleted><Year>2014</Year><Month>09</Month><Day>26</Day></DateCompleted><DateRevised><Year>2017</Year><Month>02</Month><Day>20</Day></DateRevised><Article PubModel="Electronic"><Journal><ISSN IssnType="Electronic">1756-8722</ISSN><JournalIssue CitedMedium="Internet"><Volume>7</Volume><PubDate><Year>2014</Year><Month>Apr</Month><Day>22</Day></PubDate></JournalIssue><Title>Journal of hematology & oncology</Title><ISOAbbreviation>J Hematol Oncol</ISOAbbreviation></Journal><ArticleTitle>Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature.</ArticleTitle><Pagination><MedlinePgn>36</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1186/1756-8722-7-36</ELocationID><Abstract><AbstractText>A 50-year-old woman was diagnosed with acute myeloid leukemia (AML). She has history of thrombocytopenia for 25 years and a significant family history of thrombocytopenia, affecting her mother, siblings and their children, as well as her own children. Both her mother and maternal aunt died from myelodysplastic syndrome (MDS). Additional genetic analysis was performed and identified two heterozygous missence mutations in the second zinc finger domain of GATA2 gene (p.Thr358Lys, and p.Leu359Val), occurring in cis on the same allele. Given the patient's family history and clinical manifestation, this was interpreted as an acute myeloid leukemia with heritable GATA2 mutations associated with familial AML-MDS. Germline GATA2 mutations are involved in a group of complex syndromes with overlapping clinical features of immune deficiency, lymphedema and propensity to acute myeloid leukemia or myelodysplastic syndrome (AML-MDS). Here we reported a case of familial AML-MDS with two novel GATA2 mutations. This case illustrates the importance of recognizing the clinical features for this rare category of AML-MDS and performing the appropriate molecular testing. The diagnosis of heritable gene mutations associated familial AML-MDS has significant clinical implication for the patients and affected families. Clinical trials are available to further investigate the role of allogeneic hematopoietic stem cell transplant in managing these patients.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Gao</LastName><ForeName>Juehua</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Pathology, Northwestern University Feinberg School of Medicine, 251 E, Huron Street, Chicago, IL 60611, USA. j-gao@northwestern.edu.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gentzler</LastName><ForeName>Ryan D</ForeName><Initials>RD</Initials></Author><Author ValidYN="Y"><LastName>Timms</LastName><ForeName>Andrew E</ForeName><Initials>AE</Initials></Author><Author ValidYN="Y"><LastName>Horwitz</LastName><ForeName>Marshall S</ForeName><Initials>MS</Initials></Author><Author ValidYN="Y"><LastName>Frankfurt</LastName><ForeName>Olga</ForeName><Initials>O</Initials></Author><Author ValidYN="Y"><LastName>Altman</LastName><ForeName>Jessica K</ForeName><Initials>JK</Initials></Author><Author ValidYN="Y"><LastName>Peterson</LastName><ForeName>LoAnn C</ForeName><Initials>LC</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2014</Year><Month>04</Month><Day>22</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>J Hematol Oncol</MedlineTA><NlmUniqueID>101468937</NlmUniqueID><ISSNLinking>1756-8722</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D050989">GATA2 Transcription Factor</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="ErratumIn"><RefSource>J Hematol Oncol. 2015;8:131</RefSource><PMID Version="1">26715529</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Proc Natl Acad Sci U S A. 2008 Feb 12;105(6):2076-81</RefSource><PMID Version="1">18250304</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Blood. 2011 Sep 29;118(13):3715-20</RefSource><PMID Version="1">21816832</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Br J Haematol. 2012 Jul;158(2):242-8</RefSource><PMID Version="1">22533337</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Clin Oncol. 2012 Jan 10;30(2):179-83</RefSource><PMID Version="1">22162584</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Blood. 2006 Mar 1;107(5):1857-63</RefSource><PMID Version="1">16254139</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Cancer Genet Cytogenet. 2001 Jan 15;124(2):147-51</RefSource><PMID Version="1">11172908</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Med Genet A. 2010 Sep;152A(9):2287-96</RefSource><PMID Version="1">20803646</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Blood. 2010 Feb 25;115(8):1519-29</RefSource><PMID Version="1">20040766</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ther Adv Hematol. 2013 Aug;4(4):254-69</RefSource><PMID Version="1">23926458</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Cancer Genet Cytogenet. 2000 Jan 15;116(2):170-3</RefSource><PMID Version="1">10640152</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Leukemia. 2013 Feb;27(2):482-5</RefSource><PMID Version="1">22814295</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Leukemia. 2006 Jun;20(6):1103-8</RefSource><PMID Version="1">16541144</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Haematologica. 2012 Jun;97(6):890-4</RefSource><PMID Version="1">22271902</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Br J Haematol. 2013 Jun;161(5):649-58</RefSource><PMID Version="1">23521373</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Blood. 2002 Feb 15;99(4):1364-72</RefSource><PMID Version="1">11830488</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Blood. 2012 Feb 2;119(5):1283-91</RefSource><PMID Version="1">22147895</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Blood. 2011 Sep 8;118(10):2653-5</RefSource><PMID Version="1">21670465</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2011 Oct;43(10):929-31</RefSource><PMID Version="1">21892158</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Blood. 1997 May 15;89(10):3636-43</RefSource><PMID Version="1">9160668</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Exp Med. 2011 Feb 14;208(2):227-34</RefSource><PMID Version="1">21242295</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2011 Oct;43(10):926-7</RefSource><PMID Version="1">21956389</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Blood. 2013 Jan 31;121(5):822-9</RefSource><PMID Version="1">23223431</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Blood. 2012 Sep 6;120(10):2064-75</RefSource><PMID Version="1">22786876</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Haematologica. 2014 Feb;99(2):276-81</RefSource><PMID Version="1">24077845</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Mol Diagn. 2003 May;5(2):96-102</RefSource><PMID Version="1">12707374</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2011 Oct;43(10):1012-7</RefSource><PMID Version="1">21892162</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>N Engl J Med. 2004 Apr 15;350(16):1605-16</RefSource><PMID Version="1">15084693</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D000208" MajorTopicYN="N">Acute Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001483" MajorTopicYN="N">Base Sequence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005192" MajorTopicYN="N">Family Health</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D050989" MajorTopicYN="N">GATA2 Transcription Factor</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006579" MajorTopicYN="N">Heterozygote</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007621" MajorTopicYN="N">Karyotyping</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007951" MajorTopicYN="N">Leukemia, Myeloid</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020125" MajorTopicYN="Y">Mutation, Missense</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009190" MajorTopicYN="N">Myelodysplastic Syndromes</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList><OtherID 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