Chemoresistant pleomorphic rhabdomyosarcoma: whole exome sequencing reveals underlying cancer predisposition and therapeutic options.
Adult
Antibodies, Anti-Idiotypic
B7-H1 Antigen
/ antagonists & inhibitors
Biomarkers, Tumor
/ genetics
Child
Drug Resistance, Neoplasm
/ genetics
Female
Gene Expression Regulation, Neoplastic
Genetic Predisposition to Disease
Germ-Line Mutation
/ genetics
Humans
Loss of Heterozygosity
/ genetics
Lung Neoplasms
/ immunology
Male
Middle Aged
Mismatch Repair Endonuclease PMS2
/ genetics
MutL Protein Homolog 1
/ genetics
Neoplasm Metastasis
Rhabdomyosarcoma
/ genetics
Exome Sequencing
Young Adult
Mlh1
cancer predisposition
genomic medicine
lynch syndrome
rhabdomyosarcoma
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
02 2020
02 2020
Historique:
received:
08
07
2018
revised:
26
09
2018
accepted:
04
10
2018
pubmed:
26
10
2018
medline:
3
2
2021
entrez:
25
10
2018
Statut:
ppublish
Résumé
Rhabdomyosarcoma (RMS) is rare cancer affecting children and adults. Pleomorphic RMS histology is almost exclusive to adult patients and often resistant to chemotherapy. We report the case of a 19-year-old patient who presented with a metastatic chemoresistant pleomorphic RMS. Considering the poor prognosis and the few systemic therapeutic options, we decided to carry out a whole exome sequencing (WES) of the tumour and germline DNA. WES identified a germline variation (c.1863_1864insT) in the This observation of an RMS revealing an unexpected Lynch syndrome underlines the overlap between tumorous and germline molecular genetics and emphasises the major impact of cancer genomic medicine in clinical practice for guiding treatment decision.
Sections du résumé
BACKGROUND
Rhabdomyosarcoma (RMS) is rare cancer affecting children and adults. Pleomorphic RMS histology is almost exclusive to adult patients and often resistant to chemotherapy.
OBJECTIVE
We report the case of a 19-year-old patient who presented with a metastatic chemoresistant pleomorphic RMS.
METHODS
Considering the poor prognosis and the few systemic therapeutic options, we decided to carry out a whole exome sequencing (WES) of the tumour and germline DNA.
RESULTS
WES identified a germline variation (c.1863_1864insT) in the
CONCLUSION
This observation of an RMS revealing an unexpected Lynch syndrome underlines the overlap between tumorous and germline molecular genetics and emphasises the major impact of cancer genomic medicine in clinical practice for guiding treatment decision.
Identifiants
pubmed: 30352869
pii: jmedgenet-2018-105594
doi: 10.1136/jmedgenet-2018-105594
doi:
Substances chimiques
Antibodies, Anti-Idiotypic
0
B7-H1 Antigen
0
Biomarkers, Tumor
0
CD274 protein, human
0
MLH1 protein, human
0
PMS2 protein, human
EC 3.6.1.-
Mismatch Repair Endonuclease PMS2
EC 3.6.1.3
MutL Protein Homolog 1
EC 3.6.1.3
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
104-108Informations de copyright
© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.