Lineage-Independent Tumors in Bilateral Neuroblastoma.

Abdominal Neoplasms / genetics Adrenal Gland Neoplasms / genetics Child, Preschool DNA Helicases / genetics Female Genetic Predisposition to Disease Germ-Line Mutation Humans Male Neoplasms, Multiple Primary / genetics Neuroblastoma / genetics Nuclear Proteins / genetics Sequence Analysis, DNA Transcription Factors / genetics Translocation, Genetic

Journal

The New England journal of medicine
ISSN: 1533-4406
Titre abrégé: N Engl J Med
Pays: United States
ID NLM: 0255562

Informations de publication

Date de publication:
05 11 2020
Historique:
entrez: 19 11 2020
pubmed: 20 11 2020
medline: 15 12 2020
Statut: ppublish

Résumé

Childhood tumors that occur synchronously in different anatomical sites usually represent metastatic disease. However, such tumors can be independent neoplasms. We investigated whether cases of bilateral neuroblastoma represented independent tumors in two children with pathogenic germline mutations by genotyping somatic mutations shared between tumors and blood. Our results suggested that in both children, the lineages that had given rise to the tumors had segregated within the first cell divisions of the zygote, without being preceded by a common premalignant clone. In one patient, the tumors had parallel evolution, including distinct second hits in

Identifiants

DOI: 10.1056/NEJMoa2000962 PMID: 33211929 PMC: PMC7611571
pubmed: 33211929
doi: 10.1056/NEJMoa2000962
pmc: PMC7611571
mid: EMS132514
doi:

Substances chimiques

Nuclear Proteins 0
Transcription Factors 0
SMARCA4 protein, human EC 3.6.1.-
DNA Helicases EC 3.6.4.-

Types de publication

Case Reports Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1860-1865

Subventions

Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 110104
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 206194
Pays : United Kingdom

Informations de copyright

Copyright © 2020 Massachusetts Medical Society.

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Auteurs

Tim H H Coorens (THH)

From the Wellcome Sanger Institute, Hinxton (T.H.H.C., T.J.M., S.L., S.B.), Cambridge University Hospitals NHS Foundation Trust (S.J.F., T.J.M., S.B.) and the Departments of Surgery (T.J.M.) and Paediatrics (S.B.), University of Cambridge, Cambridge, and UCL Great Ormond Street Institute of Child Health (N.J., N.S., J.A.), Great Ormond Street Hospital for Children NHS Foundation Trust (N.J., N.S., J.A.), and the Royal Marsden NHS Foundation Trust (M.H.), London - all in the United Kingdom.

Sarah J Farndon (SJ)

From the Wellcome Sanger Institute, Hinxton (T.H.H.C., T.J.M., S.L., S.B.), Cambridge University Hospitals NHS Foundation Trust (S.J.F., T.J.M., S.B.) and the Departments of Surgery (T.J.M.) and Paediatrics (S.B.), University of Cambridge, Cambridge, and UCL Great Ormond Street Institute of Child Health (N.J., N.S., J.A.), Great Ormond Street Hospital for Children NHS Foundation Trust (N.J., N.S., J.A.), and the Royal Marsden NHS Foundation Trust (M.H.), London - all in the United Kingdom.

Thomas J Mitchell (TJ)

From the Wellcome Sanger Institute, Hinxton (T.H.H.C., T.J.M., S.L., S.B.), Cambridge University Hospitals NHS Foundation Trust (S.J.F., T.J.M., S.B.) and the Departments of Surgery (T.J.M.) and Paediatrics (S.B.), University of Cambridge, Cambridge, and UCL Great Ormond Street Institute of Child Health (N.J., N.S., J.A.), Great Ormond Street Hospital for Children NHS Foundation Trust (N.J., N.S., J.A.), and the Royal Marsden NHS Foundation Trust (M.H.), London - all in the United Kingdom.

Neha Jain (N)

From the Wellcome Sanger Institute, Hinxton (T.H.H.C., T.J.M., S.L., S.B.), Cambridge University Hospitals NHS Foundation Trust (S.J.F., T.J.M., S.B.) and the Departments of Surgery (T.J.M.) and Paediatrics (S.B.), University of Cambridge, Cambridge, and UCL Great Ormond Street Institute of Child Health (N.J., N.S., J.A.), Great Ormond Street Hospital for Children NHS Foundation Trust (N.J., N.S., J.A.), and the Royal Marsden NHS Foundation Trust (M.H.), London - all in the United Kingdom.

Sangjin Lee (S)

From the Wellcome Sanger Institute, Hinxton (T.H.H.C., T.J.M., S.L., S.B.), Cambridge University Hospitals NHS Foundation Trust (S.J.F., T.J.M., S.B.) and the Departments of Surgery (T.J.M.) and Paediatrics (S.B.), University of Cambridge, Cambridge, and UCL Great Ormond Street Institute of Child Health (N.J., N.S., J.A.), Great Ormond Street Hospital for Children NHS Foundation Trust (N.J., N.S., J.A.), and the Royal Marsden NHS Foundation Trust (M.H.), London - all in the United Kingdom.

Michael Hubank (M)

From the Wellcome Sanger Institute, Hinxton (T.H.H.C., T.J.M., S.L., S.B.), Cambridge University Hospitals NHS Foundation Trust (S.J.F., T.J.M., S.B.) and the Departments of Surgery (T.J.M.) and Paediatrics (S.B.), University of Cambridge, Cambridge, and UCL Great Ormond Street Institute of Child Health (N.J., N.S., J.A.), Great Ormond Street Hospital for Children NHS Foundation Trust (N.J., N.S., J.A.), and the Royal Marsden NHS Foundation Trust (M.H.), London - all in the United Kingdom.

Neil Sebire (N)

From the Wellcome Sanger Institute, Hinxton (T.H.H.C., T.J.M., S.L., S.B.), Cambridge University Hospitals NHS Foundation Trust (S.J.F., T.J.M., S.B.) and the Departments of Surgery (T.J.M.) and Paediatrics (S.B.), University of Cambridge, Cambridge, and UCL Great Ormond Street Institute of Child Health (N.J., N.S., J.A.), Great Ormond Street Hospital for Children NHS Foundation Trust (N.J., N.S., J.A.), and the Royal Marsden NHS Foundation Trust (M.H.), London - all in the United Kingdom.

John Anderson (J)

From the Wellcome Sanger Institute, Hinxton (T.H.H.C., T.J.M., S.L., S.B.), Cambridge University Hospitals NHS Foundation Trust (S.J.F., T.J.M., S.B.) and the Departments of Surgery (T.J.M.) and Paediatrics (S.B.), University of Cambridge, Cambridge, and UCL Great Ormond Street Institute of Child Health (N.J., N.S., J.A.), Great Ormond Street Hospital for Children NHS Foundation Trust (N.J., N.S., J.A.), and the Royal Marsden NHS Foundation Trust (M.H.), London - all in the United Kingdom.

Sam Behjati (S)

From the Wellcome Sanger Institute, Hinxton (T.H.H.C., T.J.M., S.L., S.B.), Cambridge University Hospitals NHS Foundation Trust (S.J.F., T.J.M., S.B.) and the Departments of Surgery (T.J.M.) and Paediatrics (S.B.), University of Cambridge, Cambridge, and UCL Great Ormond Street Institute of Child Health (N.J., N.S., J.A.), Great Ormond Street Hospital for Children NHS Foundation Trust (N.J., N.S., J.A.), and the Royal Marsden NHS Foundation Trust (M.H.), London - all in the United Kingdom.

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Classifications MeSH

questionsmedicales.fr › Tumeurs › Tumeurs par siège › Tumeurs de l'abdomen › Lineage-Independent Tumors in Bilateral Neuroblastoma.
questionsmedicales.fr › Maladies endocriniennes › Tumeurs des glandes endocrines › Tumeurs de la surrénale › Lineage-Independent Tumors in Bilateral Neuroblastoma.
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › Lineage-Independent Tumors in Bilateral Neuroblastoma.
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Isomerases › Helicase › Lineage-Independent Tumors in Bilateral Neuroblastoma.
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Lineage-Independent Tumors in Bilateral Neuroblastoma.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation germinale › Lineage-Independent Tumors in Bilateral Neuroblastoma.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Lineage-Independent Tumors in Bilateral Neuroblastoma.
questionsmedicales.fr › Tumeurs › Tumeurs primitives multiples › Lineage-Independent Tumors in Bilateral Neuroblastoma.
questionsmedicales.fr › Tumeurs › Tumeurs par type histologique › Tumeurs du tissu nerveux › Tumeurs neuroectodermiques › Tumeurs neuroépitheliales › Tumeurs neuroectodermiques primitives › Tumeurs neuroectodermiques primitives périphériques › Neuroblastome › Lineage-Independent Tumors in Bilateral Neuroblastoma.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines nucléaires › Lineage-Independent Tumors in Bilateral Neuroblastoma.
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Lineage-Independent Tumors in Bilateral Neuroblastoma.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Lineage-Independent Tumors in Bilateral Neuroblastoma.
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Translocation génétique › Lineage-Independent Tumors in Bilateral Neuroblastoma.