Acute lymphoblastic leukemia in the context of RASopathies.
Identifieur interne : 002415 ( Main/Exploration ); précédent : 002414; suivant : 002416Acute lymphoblastic leukemia in the context of RASopathies.
Auteurs : Hélène Cavé [France] ; Aurélie Caye [France] ; Marion Strullu [France] ; Nathalie Aladjidi [France] ; Cédric Vignal [France] ; Alice Ferster [Belgique] ; Françoise Méchinaud [Australie] ; Carine Domenech [France] ; Filomena Pierri [France] ; Audrey Contet [France] ; Valère Cacheux [France] ; Julie Irving [Royaume-Uni] ; Christian Kratz [Allemagne] ; Jacqueline Clavel [France] ; Alain Verloes [France]Source :
- European journal of medical genetics [ 1878-0849 ] ; 2016.
Descripteurs français
- KwdFr :
- Adolescent, Enfant, Enfant d'âge préscolaire, Femelle, Génotype, Humains, Leucémie-lymphome lymphoblastique à précurseurs B et T (), Leucémie-lymphome lymphoblastique à précurseurs B et T (épidémiologie), Leucémie-lymphome lymphoblastique à précurseurs B et T (étiologie), Mutation, Mâle, Nourrisson, Nouveau-né, Protein Tyrosine Phosphatase, Non-Receptor Type 11 (génétique), Protéine SOS1 (génétique), Protéines G ras (génétique), Protéines G ras (métabolisme), Prévalence, Seconde tumeur primitive (étiologie), Syndrome de Noonan (), Syndrome de Noonan (génétique), Syndrome de Noonan (métabolisme).
- MESH :
- génétique : Protein Tyrosine Phosphatase, Non-Receptor Type 11, Protéine SOS1, Protéines G ras, Syndrome de Noonan.
- métabolisme : Protéines G ras, Syndrome de Noonan.
- épidémiologie : Leucémie-lymphome lymphoblastique à précurseurs B et T.
- étiologie : Leucémie-lymphome lymphoblastique à précurseurs B et T, Seconde tumeur primitive.
- Adolescent, Enfant, Enfant d'âge préscolaire, Femelle, Génotype, Humains, Leucémie-lymphome lymphoblastique à précurseurs B et T, Mutation, Mâle, Nourrisson, Nouveau-né, Prévalence, Syndrome de Noonan.
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
Affiliations:
- Allemagne, Australie, Belgique, France, Royaume-Uni
- Aquitaine, Basse-Saxe, Grand Est, Lorraine (région), Nouvelle-Aquitaine, Région de Bruxelles-Capitale, Île-de-France
- Bordeaux, Bruxelles, Hanovre, Nancy, Paris, Vandœuvre-lès-Nancy
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Le document en format XML
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Onco-Hematology, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Hôpital Universitaire des Enfants Reine Fabiola (ULB), Department of Pediatric Onco-Hematology, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Mechinaud, Francoise" sort="Mechinaud, Francoise" uniqKey="Mechinaud F" first="Françoise" last="Méchinaud">Françoise Méchinaud</name><affiliation wicri:level="1"><nlm:affiliation>The Royal Children's Hospital Melbourne, Children's Cancer Centre, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>The Royal Children's Hospital Melbourne, Children's Cancer Centre, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Domenech, Carine" sort="Domenech, Carine" uniqKey="Domenech C" 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University, Newcastle upon Tyne, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Newcastle Cancer Centre at the Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne</wicri:noRegion></affiliation></author><author><name sortKey="Kratz, Christian" sort="Kratz, Christian" uniqKey="Kratz C" first="Christian" last="Kratz">Christian Kratz</name><affiliation wicri:level="3"><nlm:affiliation>Pediatric Hematology and Oncology, Hannover, Medical School, Hannover, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Pediatric Hematology and Oncology, Hannover, Medical School, Hannover</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Hanovre</settlement></placeName></affiliation></author><author><name sortKey="Clavel, Jacqueline" sort="Clavel, Jacqueline" uniqKey="Clavel J" first="Jacqueline" last="Clavel">Jacqueline Clavel</name><affiliation wicri:level="3"><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><country xml:lang="fr">France</country><wicri:regionArea>National Registry of Childhood Cancers, Villejuif, France; Descartes University Center of Research in Epidemiology and Statistics Sorbonne Paris Cité (CRESS-UMR1153), Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name><affiliation wicri:level="3"><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><country xml:lang="fr">France</country><wicri:regionArea>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</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></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><idno type="wicri:Area/PubMed/Curation">002168</idno><idno type="wicri:explorRef" 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Département de Génétique, Paris, France. Electronic address: helene.cave@aphp.fr.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>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</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Caye, Aurelie" sort="Caye, Aurelie" uniqKey="Caye A" first="Aurélie" last="Caye">Aurélie Caye</name><affiliation wicri:level="3"><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><country xml:lang="fr">France</country><wicri:regionArea>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</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Strullu, Marion" sort="Strullu, Marion" uniqKey="Strullu M" first="Marion" last="Strullu">Marion Strullu</name><affiliation wicri:level="3"><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><country xml:lang="fr">France</country><wicri:regionArea>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</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Aladjidi, Nathalie" sort="Aladjidi, Nathalie" uniqKey="Aladjidi N" first="Nathalie" last="Aladjidi">Nathalie Aladjidi</name><affiliation wicri:level="3"><nlm:affiliation>Hôpital Pellegrin, Hôpital des Enfants, Unité d'Hémato-Oncologie Pédiatrique, Bordeaux, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital Pellegrin, Hôpital des Enfants, Unité d'Hémato-Oncologie Pédiatrique, Bordeaux</wicri:regionArea><placeName><region type="region">Nouvelle-Aquitaine</region><region type="old region">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Vignal, Cedric" sort="Vignal, Cedric" uniqKey="Vignal C" first="Cédric" last="Vignal">Cédric Vignal</name><affiliation wicri:level="3"><nlm:affiliation>Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Ferster, Alice" sort="Ferster, Alice" uniqKey="Ferster A" first="Alice" last="Ferster">Alice Ferster</name><affiliation wicri:level="3"><nlm:affiliation>Hôpital Universitaire des Enfants Reine Fabiola (ULB), Department of Pediatric Onco-Hematology, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Hôpital Universitaire des Enfants Reine Fabiola (ULB), Department of Pediatric Onco-Hematology, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Mechinaud, Francoise" sort="Mechinaud, Francoise" uniqKey="Mechinaud F" first="Françoise" last="Méchinaud">Françoise Méchinaud</name><affiliation wicri:level="1"><nlm:affiliation>The Royal Children's Hospital Melbourne, Children's Cancer Centre, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>The Royal Children's Hospital Melbourne, Children's Cancer Centre, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Domenech, Carine" sort="Domenech, Carine" uniqKey="Domenech C" first="Carine" last="Domenech">Carine Domenech</name><affiliation wicri:level="1"><nlm:affiliation>Institut d'Hémato-Oncologie Pédiatrique (IHOP), Département d'Immunologie et Hématologie Pédiatrique Lyon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut d'Hémato-Oncologie Pédiatrique (IHOP), Département d'Immunologie et Hématologie Pédiatrique Lyon</wicri:regionArea><wicri:noRegion>Département d'Immunologie et Hématologie Pédiatrique Lyon</wicri:noRegion><wicri:noRegion>Département d'Immunologie et Hématologie Pédiatrique Lyon</wicri:noRegion></affiliation></author><author><name sortKey="Pierri, Filomena" sort="Pierri, Filomena" uniqKey="Pierri F" first="Filomena" last="Pierri">Filomena Pierri</name><affiliation wicri:level="1"><nlm:affiliation>Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Armand-Trousseau, Service d'Hématologie Oncologie Pédiatrique, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Armand-Trousseau, Service d'Hématologie Oncologie Pédiatrique</wicri:regionArea><wicri:noRegion>Service d'Hématologie Oncologie Pédiatrique</wicri:noRegion><wicri:noRegion>Service d'Hématologie Oncologie Pédiatrique</wicri:noRegion></affiliation></author><author><name sortKey="Contet, Audrey" sort="Contet, Audrey" uniqKey="Contet A" first="Audrey" last="Contet">Audrey Contet</name><affiliation wicri:level="3"><nlm:affiliation>Hôpital d'Enfants de Brabois, Service d'Onco-Hématologie pédiatrique, Vandoeuvre lès Nancy, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital d'Enfants de Brabois, Service d'Onco-Hématologie pédiatrique, Vandoeuvre lès Nancy</wicri:regionArea><placeName><region type="region" nuts="2">Grand Est</region><region type="old region" nuts="2">Lorraine (région)</region><settlement type="city">Vandœuvre-lès-Nancy</settlement><settlement type="city" wicri:auto="agglo">Nancy</settlement></placeName></affiliation></author><author><name sortKey="Cacheux, Valere" sort="Cacheux, Valere" uniqKey="Cacheux V" first="Valère" last="Cacheux">Valère Cacheux</name><affiliation wicri:level="3"><nlm:affiliation>CHU de Montpellier, Hôpital Saint-Eloi, Laboratoire d'Hématologie, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHU de Montpellier, Hôpital Saint-Eloi, Laboratoire d'Hématologie, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Irving, Julie" sort="Irving, Julie" uniqKey="Irving J" first="Julie" last="Irving">Julie Irving</name><affiliation wicri:level="1"><nlm:affiliation>Newcastle Cancer Centre at the Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Newcastle Cancer Centre at the Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne</wicri:regionArea><wicri:noRegion>Newcastle upon Tyne</wicri:noRegion></affiliation></author><author><name sortKey="Kratz, Christian" sort="Kratz, Christian" uniqKey="Kratz C" first="Christian" last="Kratz">Christian Kratz</name><affiliation wicri:level="3"><nlm:affiliation>Pediatric Hematology and Oncology, Hannover, Medical School, Hannover, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Pediatric Hematology and Oncology, Hannover, Medical School, Hannover</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Hanovre</settlement></placeName></affiliation></author><author><name sortKey="Clavel, Jacqueline" sort="Clavel, Jacqueline" uniqKey="Clavel J" first="Jacqueline" last="Clavel">Jacqueline Clavel</name><affiliation wicri:level="3"><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><country xml:lang="fr">France</country><wicri:regionArea>National Registry of Childhood Cancers, Villejuif, France; Descartes University Center of Research in Epidemiology and Statistics Sorbonne Paris Cité (CRESS-UMR1153), Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name><affiliation wicri:level="3"><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><country xml:lang="fr">France</country><wicri:regionArea>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</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></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="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Leucémie-lymphome lymphoblastique à précurseurs B et T ()</term><term>Leucémie-lymphome lymphoblastique à précurseurs B et T (épidémiologie)</term><term>Leucémie-lymphome lymphoblastique à précurseurs B et T (étiologie)</term><term>Mutation</term><term>Mâle</term><term>Nourrisson</term><term>Nouveau-né</term><term>Protein Tyrosine Phosphatase, Non-Receptor Type 11 (génétique)</term><term>Protéine SOS1 (génétique)</term><term>Protéines G ras (génétique)</term><term>Protéines G ras (métabolisme)</term><term>Prévalence</term><term>Seconde tumeur primitive (étiologie)</term><term>Syndrome de Noonan ()</term><term>Syndrome de Noonan (génétique)</term><term>Syndrome de Noonan (métabolisme)</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="génétique" xml:lang="fr"><term>Protein Tyrosine Phosphatase, Non-Receptor Type 11</term><term>Protéine SOS1</term><term>Protéines G ras</term><term>Syndrome de Noonan</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Noonan Syndrome</term><term>ras Proteins</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Protéines G ras</term><term>Syndrome de Noonan</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Precursor Cell Lymphoblastic Leukemia-Lymphoma</term></keywords><keywords scheme="MESH" qualifier="épidémiologie" xml:lang="fr"><term>Leucémie-lymphome lymphoblastique à précurseurs B et T</term></keywords><keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Leucémie-lymphome lymphoblastique à précurseurs B et T</term><term>Seconde tumeur primitive</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><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Leucémie-lymphome lymphoblastique à précurseurs B et T</term><term>Mutation</term><term>Mâle</term><term>Nourrisson</term><term>Nouveau-né</term><term>Prévalence</term><term>Syndrome de Noonan</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><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>France</li><li>Royaume-Uni</li></country><region><li>Aquitaine</li><li>Basse-Saxe</li><li>Grand Est</li><li>Lorraine (région)</li><li>Nouvelle-Aquitaine</li><li>Région de Bruxelles-Capitale</li><li>Île-de-France</li></region><settlement><li>Bordeaux</li><li>Bruxelles</li><li>Hanovre</li><li>Nancy</li><li>Paris</li><li>Vandœuvre-lès-Nancy</li></settlement></list><tree><country name="France"><region name="Île-de-France"><name sortKey="Cave, Helene" sort="Cave, Helene" uniqKey="Cave H" first="Hélène" last="Cavé">Hélène Cavé</name></region><name sortKey="Aladjidi, Nathalie" sort="Aladjidi, Nathalie" uniqKey="Aladjidi N" first="Nathalie" last="Aladjidi">Nathalie Aladjidi</name><name sortKey="Cacheux, Valere" sort="Cacheux, Valere" uniqKey="Cacheux V" first="Valère" last="Cacheux">Valère Cacheux</name><name sortKey="Caye, Aurelie" sort="Caye, Aurelie" uniqKey="Caye A" first="Aurélie" last="Caye">Aurélie Caye</name><name sortKey="Clavel, Jacqueline" sort="Clavel, Jacqueline" uniqKey="Clavel J" first="Jacqueline" last="Clavel">Jacqueline Clavel</name><name sortKey="Contet, Audrey" sort="Contet, Audrey" uniqKey="Contet A" first="Audrey" last="Contet">Audrey Contet</name><name sortKey="Domenech, Carine" sort="Domenech, Carine" uniqKey="Domenech C" first="Carine" last="Domenech">Carine Domenech</name><name sortKey="Pierri, Filomena" sort="Pierri, Filomena" uniqKey="Pierri F" first="Filomena" last="Pierri">Filomena Pierri</name><name sortKey="Strullu, Marion" sort="Strullu, Marion" uniqKey="Strullu M" first="Marion" last="Strullu">Marion Strullu</name><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name><name sortKey="Vignal, Cedric" sort="Vignal, Cedric" uniqKey="Vignal C" first="Cédric" last="Vignal">Cédric Vignal</name></country><country name="Belgique"><region name="Région de Bruxelles-Capitale"><name sortKey="Ferster, Alice" sort="Ferster, Alice" uniqKey="Ferster A" first="Alice" last="Ferster">Alice Ferster</name></region></country><country name="Australie"><noRegion><name sortKey="Mechinaud, Francoise" sort="Mechinaud, Francoise" uniqKey="Mechinaud F" first="Françoise" last="Méchinaud">Françoise Méchinaud</name></noRegion></country><country name="Royaume-Uni"><noRegion><name sortKey="Irving, Julie" sort="Irving, Julie" uniqKey="Irving J" first="Julie" last="Irving">Julie Irving</name></noRegion></country><country name="Allemagne"><region name="Basse-Saxe"><name sortKey="Kratz, Christian" sort="Kratz, Christian" uniqKey="Kratz C" first="Christian" last="Kratz">Christian Kratz</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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