Acute lymphoblastic leukemia in the context of RASopathies.
Identifieur interne : 002194 ( PubMed/Corpus ); précédent : 002193; suivant : 002195Acute lymphoblastic leukemia in the context of RASopathies.
Auteurs : Hélène Cavé ; Aurélie Caye ; Marion Strullu ; Nathalie Aladjidi ; Cédric Vignal ; Alice Ferster ; Françoise Méchinaud ; Carine Domenech ; Filomena Pierri ; Audrey Contet ; Valère Cacheux ; Julie Irving ; Christian Kratz ; Jacqueline Clavel ; Alain VerloesSource :
- European journal of medical genetics [ 1878-0849 ] ; 2016.
English descriptors
- KwdEn :
- Adolescent, Child, Child, Preschool, Female, Genotype, Humans, Infant, Infant, Newborn, Male, Mutation, Neoplasms, Second Primary (etiology), Noonan Syndrome (complications), Noonan Syndrome (genetics), Noonan Syndrome (metabolism), Precursor Cell Lymphoblastic Leukemia-Lymphoma (epidemiology), Precursor Cell Lymphoblastic Leukemia-Lymphoma (etiology), Precursor Cell Lymphoblastic Leukemia-Lymphoma (therapy), Prevalence, Protein Tyrosine Phosphatase, Non-Receptor Type 11 (genetics), SOS1 Protein (genetics), ras Proteins (genetics), ras Proteins (metabolism).
- MESH :
- chemical , genetics : Protein Tyrosine Phosphatase, Non-Receptor Type 11, SOS1 Protein, ras Proteins.
- complications : Noonan Syndrome.
- epidemiology : Precursor Cell Lymphoblastic Leukemia-Lymphoma.
- etiology : Neoplasms, Second Primary, Precursor Cell Lymphoblastic Leukemia-Lymphoma.
- genetics : Noonan Syndrome.
- metabolism : Noonan Syndrome, ras Proteins.
- therapy : Precursor Cell Lymphoblastic Leukemia-Lymphoma.
- Adolescent, Child, Child, Preschool, Female, Genotype, Humans, Infant, Infant, Newborn, Male, Mutation, Prevalence.
Abstract
Noonan syndrome is associated with a range of malignancies including acute lymphoblastic leukemia (ALL). However, little information is available regarding the frequency, natural history, characteristics and prognosis of ALL in Noonan syndrome or RASopathies in general. Cross-referencing data from a large prospective cohort of 1176 patients having a molecularly confirmed RASopathy with data from the French childhood cancer registry allowed us to identify ALL in 6 (0.5%) patients including 4/778 (0.5%) with a germline PTPN11 mutation and 2/94 (2.1%) with a germline SOS1 mutation. None of the patients of our series with CFC syndrome (with germline BRAF or MAP2K1/MAP2K2 mutation - n = 121) or Costello syndrome (with HRAS mutation - n = 35) had an ALL. A total of 19 Noonan-ALL were gathered by adding our patients to those of the International Berlin-Munster-Frankfurt (I-BFM) study group and previously reported patients. Strikingly, all Noonan-associated ALL were B-cell precursor ALL, and high hyperdiploidy with more than 50 chromosomes was found in the leukemia cells of 13/17 (76%) patients with available genetics data. Our data suggest that children with Noonan syndrome are at higher risk to develop ALL. Like what is observed for somatic PTPN11 mutations, NS is preferentially associated with the development of hyperdiploid ALL that will usually respond well to chemotherapy. However, Noonan syndrome patients seem to have a propensity to develop post therapy myelodysplasia that can eventually be fatal. Hence, one should be particularly cautious when treating these patients.
DOI: 10.1016/j.ejmg.2016.01.003
PubMed: 26855057
Links to Exploration step
pubmed:26855057Le document en format XML
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Electronic address: helene.cave@aphp.fr.</nlm:affiliation></affiliation></author><author><name sortKey="Caye, Aurelie" sort="Caye, Aurelie" uniqKey="Caye A" first="Aurélie" last="Caye">Aurélie Caye</name><affiliation><nlm:affiliation>INSERM UMR_S1131, Institut Universitaire d'Hématologie, Université Paris Diderot, Sorbonne-Paris-Cité, Paris, France; Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Strullu, Marion" sort="Strullu, Marion" uniqKey="Strullu M" first="Marion" last="Strullu">Marion Strullu</name><affiliation><nlm:affiliation>INSERM UMR_S1131, Institut Universitaire d'Hématologie, Université Paris Diderot, Sorbonne-Paris-Cité, Paris, France; Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Aladjidi, Nathalie" sort="Aladjidi, Nathalie" uniqKey="Aladjidi N" first="Nathalie" last="Aladjidi">Nathalie Aladjidi</name><affiliation><nlm:affiliation>Hôpital Pellegrin, Hôpital des Enfants, Unité d'Hémato-Oncologie Pédiatrique, Bordeaux, France.</nlm:affiliation></affiliation></author><author><name sortKey="Vignal, Cedric" sort="Vignal, Cedric" uniqKey="Vignal C" first="Cédric" last="Vignal">Cédric Vignal</name><affiliation><nlm:affiliation>Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Ferster, Alice" sort="Ferster, Alice" uniqKey="Ferster A" first="Alice" last="Ferster">Alice Ferster</name><affiliation><nlm:affiliation>Hôpital Universitaire des Enfants Reine Fabiola (ULB), Department of Pediatric Onco-Hematology, Brussels, Belgium.</nlm:affiliation></affiliation></author><author><name sortKey="Mechinaud, Francoise" sort="Mechinaud, Francoise" uniqKey="Mechinaud F" first="Françoise" last="Méchinaud">Françoise Méchinaud</name><affiliation><nlm:affiliation>The Royal Children's Hospital Melbourne, Children's Cancer Centre, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Domenech, Carine" sort="Domenech, Carine" uniqKey="Domenech C" first="Carine" last="Domenech">Carine Domenech</name><affiliation><nlm:affiliation>Institut d'Hémato-Oncologie Pédiatrique (IHOP), Département d'Immunologie et Hématologie Pédiatrique Lyon, France.</nlm:affiliation></affiliation></author><author><name sortKey="Pierri, Filomena" sort="Pierri, Filomena" uniqKey="Pierri F" first="Filomena" last="Pierri">Filomena Pierri</name><affiliation><nlm:affiliation>Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Armand-Trousseau, Service d'Hématologie Oncologie Pédiatrique, France.</nlm:affiliation></affiliation></author><author><name sortKey="Contet, Audrey" sort="Contet, Audrey" uniqKey="Contet A" first="Audrey" last="Contet">Audrey Contet</name><affiliation><nlm:affiliation>Hôpital d'Enfants de Brabois, Service d'Onco-Hématologie pédiatrique, Vandoeuvre lès Nancy, France.</nlm:affiliation></affiliation></author><author><name sortKey="Cacheux, Valere" sort="Cacheux, Valere" uniqKey="Cacheux V" first="Valère" last="Cacheux">Valère Cacheux</name><affiliation><nlm:affiliation>CHU de Montpellier, Hôpital Saint-Eloi, Laboratoire d'Hématologie, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Irving, Julie" sort="Irving, Julie" uniqKey="Irving J" first="Julie" last="Irving">Julie Irving</name><affiliation><nlm:affiliation>Newcastle Cancer Centre at the Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Kratz, Christian" sort="Kratz, Christian" uniqKey="Kratz C" first="Christian" last="Kratz">Christian Kratz</name><affiliation><nlm:affiliation>Pediatric Hematology and Oncology, Hannover, Medical School, Hannover, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Clavel, Jacqueline" sort="Clavel, Jacqueline" uniqKey="Clavel J" first="Jacqueline" last="Clavel">Jacqueline Clavel</name><affiliation><nlm:affiliation>National Registry of Childhood Cancers, Villejuif, France; Descartes University Center of Research in Epidemiology and Statistics Sorbonne Paris Cité (CRESS-UMR1153), Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name><affiliation><nlm:affiliation>Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, Paris, France; INSERM UMR 1141, Université Paris Diderot, Sorbonne-Paris-Cité, Paris, France.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:26855057</idno><idno type="pmid">26855057</idno><idno type="doi">10.1016/j.ejmg.2016.01.003</idno><idno type="wicri:Area/PubMed/Corpus">002194</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002194</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Acute lymphoblastic leukemia in the context of RASopathies.</title><author><name sortKey="Cave, Helene" sort="Cave, Helene" uniqKey="Cave H" first="Hélène" last="Cavé">Hélène Cavé</name><affiliation><nlm:affiliation>INSERM UMR_S1131, Institut Universitaire d'Hématologie, Université Paris Diderot, Sorbonne-Paris-Cité, Paris, France; Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, Paris, France. Electronic address: helene.cave@aphp.fr.</nlm:affiliation></affiliation></author><author><name sortKey="Caye, Aurelie" sort="Caye, Aurelie" uniqKey="Caye A" first="Aurélie" last="Caye">Aurélie Caye</name><affiliation><nlm:affiliation>INSERM UMR_S1131, Institut Universitaire d'Hématologie, Université Paris Diderot, Sorbonne-Paris-Cité, Paris, France; Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Strullu, Marion" sort="Strullu, Marion" uniqKey="Strullu M" first="Marion" last="Strullu">Marion Strullu</name><affiliation><nlm:affiliation>INSERM UMR_S1131, Institut Universitaire d'Hématologie, Université Paris Diderot, Sorbonne-Paris-Cité, Paris, France; Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Aladjidi, Nathalie" sort="Aladjidi, Nathalie" uniqKey="Aladjidi N" first="Nathalie" last="Aladjidi">Nathalie Aladjidi</name><affiliation><nlm:affiliation>Hôpital Pellegrin, Hôpital des Enfants, Unité d'Hémato-Oncologie Pédiatrique, Bordeaux, France.</nlm:affiliation></affiliation></author><author><name sortKey="Vignal, Cedric" sort="Vignal, Cedric" uniqKey="Vignal C" first="Cédric" last="Vignal">Cédric Vignal</name><affiliation><nlm:affiliation>Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Ferster, Alice" sort="Ferster, Alice" uniqKey="Ferster A" first="Alice" last="Ferster">Alice Ferster</name><affiliation><nlm:affiliation>Hôpital Universitaire des Enfants Reine Fabiola (ULB), Department of Pediatric Onco-Hematology, Brussels, Belgium.</nlm:affiliation></affiliation></author><author><name sortKey="Mechinaud, Francoise" sort="Mechinaud, Francoise" uniqKey="Mechinaud F" first="Françoise" last="Méchinaud">Françoise Méchinaud</name><affiliation><nlm:affiliation>The Royal Children's Hospital Melbourne, Children's Cancer Centre, Victoria, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Domenech, Carine" sort="Domenech, Carine" uniqKey="Domenech C" first="Carine" last="Domenech">Carine Domenech</name><affiliation><nlm:affiliation>Institut d'Hémato-Oncologie Pédiatrique (IHOP), Département d'Immunologie et Hématologie Pédiatrique Lyon, France.</nlm:affiliation></affiliation></author><author><name sortKey="Pierri, Filomena" sort="Pierri, Filomena" uniqKey="Pierri F" first="Filomena" last="Pierri">Filomena Pierri</name><affiliation><nlm:affiliation>Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Armand-Trousseau, Service d'Hématologie Oncologie Pédiatrique, France.</nlm:affiliation></affiliation></author><author><name sortKey="Contet, Audrey" sort="Contet, Audrey" uniqKey="Contet A" first="Audrey" last="Contet">Audrey Contet</name><affiliation><nlm:affiliation>Hôpital d'Enfants de Brabois, Service d'Onco-Hématologie pédiatrique, Vandoeuvre lès Nancy, France.</nlm:affiliation></affiliation></author><author><name sortKey="Cacheux, Valere" sort="Cacheux, Valere" uniqKey="Cacheux V" first="Valère" last="Cacheux">Valère Cacheux</name><affiliation><nlm:affiliation>CHU de Montpellier, Hôpital Saint-Eloi, Laboratoire d'Hématologie, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Irving, Julie" sort="Irving, Julie" uniqKey="Irving J" first="Julie" last="Irving">Julie Irving</name><affiliation><nlm:affiliation>Newcastle Cancer Centre at the Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Kratz, Christian" sort="Kratz, Christian" uniqKey="Kratz C" first="Christian" last="Kratz">Christian Kratz</name><affiliation><nlm:affiliation>Pediatric Hematology and Oncology, Hannover, Medical School, Hannover, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Clavel, Jacqueline" sort="Clavel, Jacqueline" uniqKey="Clavel J" first="Jacqueline" last="Clavel">Jacqueline Clavel</name><affiliation><nlm:affiliation>National Registry of Childhood Cancers, Villejuif, France; Descartes University Center of Research in Epidemiology and Statistics Sorbonne Paris Cité (CRESS-UMR1153), Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name><affiliation><nlm:affiliation>Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, Paris, France; INSERM UMR 1141, Université Paris Diderot, Sorbonne-Paris-Cité, Paris, France.</nlm:affiliation></affiliation></author></analytic><series><title level="j">European journal of medical genetics</title><idno type="eISSN">1878-0849</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Child</term><term>Child, Preschool</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Male</term><term>Mutation</term><term>Neoplasms, Second Primary (etiology)</term><term>Noonan Syndrome (complications)</term><term>Noonan Syndrome (genetics)</term><term>Noonan Syndrome (metabolism)</term><term>Precursor Cell Lymphoblastic Leukemia-Lymphoma (epidemiology)</term><term>Precursor Cell Lymphoblastic Leukemia-Lymphoma (etiology)</term><term>Precursor Cell Lymphoblastic Leukemia-Lymphoma (therapy)</term><term>Prevalence</term><term>Protein Tyrosine Phosphatase, Non-Receptor Type 11 (genetics)</term><term>SOS1 Protein (genetics)</term><term>ras Proteins (genetics)</term><term>ras Proteins (metabolism)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein Tyrosine Phosphatase, Non-Receptor Type 11</term><term>SOS1 Protein</term><term>ras Proteins</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Noonan Syndrome</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Precursor Cell Lymphoblastic Leukemia-Lymphoma</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Neoplasms, Second Primary</term><term>Precursor Cell Lymphoblastic Leukemia-Lymphoma</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Noonan Syndrome</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Noonan Syndrome</term><term>ras Proteins</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Precursor Cell Lymphoblastic Leukemia-Lymphoma</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Child</term><term>Child, Preschool</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Male</term><term>Mutation</term><term>Prevalence</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Noonan syndrome is associated with a range of malignancies including acute lymphoblastic leukemia (ALL). However, little information is available regarding the frequency, natural history, characteristics and prognosis of ALL in Noonan syndrome or RASopathies in general. Cross-referencing data from a large prospective cohort of 1176 patients having a molecularly confirmed RASopathy with data from the French childhood cancer registry allowed us to identify ALL in 6 (0.5%) patients including 4/778 (0.5%) with a germline PTPN11 mutation and 2/94 (2.1%) with a germline SOS1 mutation. None of the patients of our series with CFC syndrome (with germline BRAF or MAP2K1/MAP2K2 mutation - n = 121) or Costello syndrome (with HRAS mutation - n = 35) had an ALL. A total of 19 Noonan-ALL were gathered by adding our patients to those of the International Berlin-Munster-Frankfurt (I-BFM) study group and previously reported patients. Strikingly, all Noonan-associated ALL were B-cell precursor ALL, and high hyperdiploidy with more than 50 chromosomes was found in the leukemia cells of 13/17 (76%) patients with available genetics data. Our data suggest that children with Noonan syndrome are at higher risk to develop ALL. Like what is observed for somatic PTPN11 mutations, NS is preferentially associated with the development of hyperdiploid ALL that will usually respond well to chemotherapy. However, Noonan syndrome patients seem to have a propensity to develop post therapy myelodysplasia that can eventually be fatal. Hence, one should be particularly cautious when treating these patients.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26855057</PMID><DateCreated><Year>2016</Year><Month>02</Month><Day>29</Day></DateCreated><DateCompleted><Year>2016</Year><Month>12</Month><Day>13</Day></DateCompleted><DateRevised><Year>2016</Year><Month>12</Month><Day>30</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1878-0849</ISSN><JournalIssue CitedMedium="Internet"><Volume>59</Volume><Issue>3</Issue><PubDate><Year>2016</Year><Month>Mar</Month></PubDate></JournalIssue><Title>European journal of medical genetics</Title><ISOAbbreviation>Eur J Med Genet</ISOAbbreviation></Journal><ArticleTitle>Acute lymphoblastic leukemia in the context of RASopathies.</ArticleTitle><Pagination><MedlinePgn>173-8</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.ejmg.2016.01.003</ELocationID><ELocationID EIdType="pii" ValidYN="Y">S1769-7212(16)30003-9</ELocationID><Abstract><AbstractText>Noonan syndrome is associated with a range of malignancies including acute lymphoblastic leukemia (ALL). However, little information is available regarding the frequency, natural history, characteristics and prognosis of ALL in Noonan syndrome or RASopathies in general. Cross-referencing data from a large prospective cohort of 1176 patients having a molecularly confirmed RASopathy with data from the French childhood cancer registry allowed us to identify ALL in 6 (0.5%) patients including 4/778 (0.5%) with a germline PTPN11 mutation and 2/94 (2.1%) with a germline SOS1 mutation. None of the patients of our series with CFC syndrome (with germline BRAF or MAP2K1/MAP2K2 mutation - n = 121) or Costello syndrome (with HRAS mutation - n = 35) had an ALL. A total of 19 Noonan-ALL were gathered by adding our patients to those of the International Berlin-Munster-Frankfurt (I-BFM) study group and previously reported patients. Strikingly, all Noonan-associated ALL were B-cell precursor ALL, and high hyperdiploidy with more than 50 chromosomes was found in the leukemia cells of 13/17 (76%) patients with available genetics data. Our data suggest that children with Noonan syndrome are at higher risk to develop ALL. Like what is observed for somatic PTPN11 mutations, NS is preferentially associated with the development of hyperdiploid ALL that will usually respond well to chemotherapy. However, Noonan syndrome patients seem to have a propensity to develop post therapy myelodysplasia that can eventually be fatal. Hence, one should be particularly cautious when treating these patients.</AbstractText><CopyrightInformation>Copyright © 2016 Elsevier Masson SAS. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Cavé</LastName><ForeName>Hélène</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>INSERM UMR_S1131, Institut Universitaire d'Hématologie, Université Paris Diderot, Sorbonne-Paris-Cité, Paris, France; Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, Paris, France. Electronic address: helene.cave@aphp.fr.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Caye</LastName><ForeName>Aurélie</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>INSERM UMR_S1131, Institut Universitaire d'Hématologie, Université Paris Diderot, Sorbonne-Paris-Cité, Paris, France; Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Strullu</LastName><ForeName>Marion</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>INSERM UMR_S1131, Institut Universitaire d'Hématologie, Université Paris Diderot, Sorbonne-Paris-Cité, Paris, France; Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Aladjidi</LastName><ForeName>Nathalie</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Hôpital Pellegrin, Hôpital des Enfants, Unité d'Hémato-Oncologie Pédiatrique, Bordeaux, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vignal</LastName><ForeName>Cédric</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ferster</LastName><ForeName>Alice</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Hôpital Universitaire des Enfants Reine Fabiola (ULB), Department of Pediatric Onco-Hematology, Brussels, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Méchinaud</LastName><ForeName>Françoise</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>The Royal Children's Hospital Melbourne, Children's Cancer Centre, Victoria, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Domenech</LastName><ForeName>Carine</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Institut d'Hémato-Oncologie Pédiatrique (IHOP), Département d'Immunologie et Hématologie Pédiatrique Lyon, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pierri</LastName><ForeName>Filomena</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Armand-Trousseau, Service d'Hématologie Oncologie Pédiatrique, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Contet</LastName><ForeName>Audrey</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Hôpital d'Enfants de Brabois, Service d'Onco-Hématologie pédiatrique, Vandoeuvre lès Nancy, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cacheux</LastName><ForeName>Valère</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>CHU de Montpellier, Hôpital Saint-Eloi, Laboratoire d'Hématologie, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Irving</LastName><ForeName>Julie</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Newcastle Cancer Centre at the Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kratz</LastName><ForeName>Christian</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Pediatric Hematology and Oncology, Hannover, Medical School, Hannover, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Clavel</LastName><ForeName>Jacqueline</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>National Registry of Childhood Cancers, Villejuif, France; Descartes University Center of Research in Epidemiology and Statistics Sorbonne Paris Cité (CRESS-UMR1153), Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Verloes</LastName><ForeName>Alain</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, Paris, France; INSERM UMR 1141, Université Paris Diderot, Sorbonne-Paris-Cité, Paris, France.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>02</Month><Day>05</Day></ArticleDate></Article><MedlineJournalInfo><Country>Netherlands</Country><MedlineTA>Eur J Med Genet</MedlineTA><NlmUniqueID>101247089</NlmUniqueID><ISSNLinking>1769-7212</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D020837">SOS1 Protein</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.1.3.48</RegistryNumber><NameOfSubstance UI="C516724">PTPN11 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.1.3.48</RegistryNumber><NameOfSubstance UI="D054592">Protein Tyrosine Phosphatase, Non-Receptor Type 11</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.6.5.2</RegistryNumber><NameOfSubstance UI="D018631">ras Proteins</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005838" MajorTopicYN="N">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007231" MajorTopicYN="N">Infant, Newborn</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016609" MajorTopicYN="N">Neoplasms, Second Primary</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009634" MajorTopicYN="N">Noonan Syndrome</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D054198" MajorTopicYN="N">Precursor Cell Lymphoblastic Leukemia-Lymphoma</DescriptorName><QualifierName UI="Q000453" MajorTopicYN="Y">epidemiology</QualifierName><QualifierName UI="Q000209" MajorTopicYN="Y">etiology</QualifierName><QualifierName UI="Q000628" MajorTopicYN="N">therapy</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D015995" MajorTopicYN="N">Prevalence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D054592" MajorTopicYN="N">Protein Tyrosine Phosphatase, Non-Receptor Type 11</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D020837" MajorTopicYN="N">SOS1 Protein</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D018631" MajorTopicYN="N">ras Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Acute lymphoblastic leukemia</Keyword><Keyword MajorTopicYN="N">Noonan syndrome</Keyword><Keyword MajorTopicYN="N">PTPN11</Keyword><Keyword MajorTopicYN="N">RASopathies</Keyword><Keyword MajorTopicYN="N">SHP2</Keyword><Keyword MajorTopicYN="N">SOS1</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>12</Month><Day>24</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>01</Month><Day>13</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>2</Month><Day>9</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>2</Month><Day>9</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>12</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">26855057</ArticleId><ArticleId IdType="pii">S1769-7212(16)30003-9</ArticleId><ArticleId IdType="doi">10.1016/j.ejmg.2016.01.003</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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