Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome

被引：0
作者：
Sue M. Huson
Timo Staab
Marta Pereira
Heather Ward
Roberto Paredes
D. Gareth Evans
Daniel Baumhoer
James O’Sullivan
Ed Cheesman
Detlev Schindler
Stefan Meyer
机构：
[1] St Mary’s Hospital,Department of Genetic Medicine
[2] Central Manchester Foundation Trust,Department of Human Genetics
[3] University of Würzburg,Stem Cell and Leukaemia Proteomics Laboratory, School of Cancer and Imaging Sciences
[4] The University of Manchester,Institute for Medical Genetics and Pathology
[5] Manchester Academic Health Science Centre,Department of Paediatric Histopathology
[6] University Hospital Basel,Departments of Paediatric Haematology Oncology
[7] Royal Manchester Children’s Hospital,Academic Unit of Paediatric and Adolescent Oncology, University of Manchester, c/o Young Oncology Unit
[8] Central Manchester Foundation Trust,undefined
[9] Royal Manchester Children’s Hospital,undefined
[10] Central Manchester Foundation Trust,undefined
[11] The Christie NHS Foundation Trust,undefined
来源：
Familial Cancer | 2022年 / 21卷
关键词：
Bloom syndrome; Infantile fibrosarcoma; Cancer predisposition; TPM3-NTKR1 fusion;
D O I：
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学科分类号：
摘要：
Bloom syndrome (BS) is a genomic and chromosomal instability disorder with prodigious cancer predisposition caused by pathogenic variants in BLM. We report the clinical and genetic details of a boy who first presented with infantile fibrosarcoma (IFS) at the age of 6 months and subsequently was diagnosed with BS at the age of 9 years. Molecular analysis identified the pathogenic germline BLM sequence variants (c.1642C>T and c.2207_2212delinsTAGATTC). This is the first report of IFS related to BS, for which we show that both BLM alleles are maintained in the tumor and demonstrate a TPM3-NTKR1 fusion transcript in the IFS. Our communication emphasizes the importance of long-term follow up after treatment for pediatric neoplastic conditions, as clues to important genetic entities might manifest later, and the identification of a heritable tumor predisposition often leads to changes in patient surveillance and management.
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页码：85 / 90
页数：5
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