Abstract:
BACKGROUND:Retinoblastoma (Rb) is a rare intraocular malignant tumor in children with high overall survival. Predisposition to Rb is linked to RB1 germline mutations with high penetrance, but rare RB1 low-penetrance variants are also known. Rb survivors are at risk of second primary malignancies (SPMs), mostly osteosarcoma and soft-tissue sarcoma. Nevertheless, the risk of primary osteosarcoma developing without prior Rb has not been reported in RB1 germline mutation carriers. METHODS:We report a patient in whom osteosarcoma developed at age 17 as a first primary malignancy within a family context of sarcoma. RESULTS:Unexpectedly, genetic testing identified a low-penetrance germline mutation in RB1 [NM_000321.2: c.45_76dup; p.(Pro26Leufs*50)]. In eight additional similar cases from published and unpublished reports of families, first primary osteosarcomas and sarcomas mostly developed in RB1 low-penetrance mutation carriers without prior Rb. CONCLUSION:We propose that first primary sarcoma and osteosarcoma could be a novel clinical presentation of a RB1-related hereditary predisposition syndrome linked to RB1 low-penetrance germline mutations. In these families, careful screening of primary non-Rb cancer and SPMs is required by maintaining enhanced clinical vigilance. Implementing lifelong periodic whole-body MRI screening might be a complementary strategy for unaffected carrier relatives in these families.
journal_name
Mol Genet Genomic Medjournal_title
Molecular genetics & genomic medicineauthors
Imbert-Bouteille M,Gauthier-Villars M,Leroux D,Meunier I,Aerts I,Lumbroso-Le Rouic L,Lejeune S,Delnatte C,Abadie C,Pujol P,Houdayer C,Corsini Cdoi
10.1002/mgg3.913subject
Has Abstractpub_date
2019-12-01 00:00:00pages
e913issue
12issn
2324-9269journal_volume
7pub_type
杂志文章abstract:BACKGROUND:Kidney renal clear cell carcinoma (KIRC) is the most common subtype of renal tumor. However, the molecular mechanisms of KIRC pathogenesis remain little known. The purpose of our study was to identify potential key genes related to the occurrence and prognosis of KIRC, which could serve as novel diagnostic a...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2019-05-01 00:00:00
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journal_title:Molecular genetics & genomic medicine
pub_type: 临床试验,杂志文章,多中心研究
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更新日期:2018-09-01 00:00:00
abstract::In this letter, we want to add information to the paper "Genetics and genomic medicine in Argentina" that we considered it was lacking. Argentina is a big country with inequalities in the access to public health care, especially in medical genetics and genomics. ...
journal_title:Molecular genetics & genomic medicine
pub_type: 评论,信件
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journal_title:Molecular genetics & genomic medicine
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更新日期:2015-03-01 00:00:00
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journal_title:Molecular genetics & genomic medicine
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更新日期:2015-09-01 00:00:00
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journal_title:Molecular genetics & genomic medicine
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更新日期:2018-11-01 00:00:00
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更新日期:2017-01-26 00:00:00
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