Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism

Familial Cancer
Laura GiganteLaura Papi

Abstract

Rhabdoid tumors are aggressive malignancies that show loss-of-function mutations of SMARCB1 gene, a member of the SWI/SNF chromatin-remodeling complex controlling gene transcription. One-third of patients affected by rhabdoid tumor harbor a germ-line mutation of SMARCB1 defining a rhabdoid tumor predisposition syndrome. The occurrence of a second somatic mutation determines the development of neoplasia in a two-hit model. Most germ-line mutations occur de novo, and few cases of recurrence in a sibship have been described. Here we report on a new Italian family with recurrence of SMARCB1 germ-line deletion in two siblings due to gonadal mosaicism. The deletion was identified in the 9-month-old proband with malignant rhabdoid tumor of the right kidney and disseminated metastases. Testing of both parents confirmed the de novo origin of the mutation, but recurrence was then detected prenatally in a new pregnancy. This is the sixth family with malignant rhabdoid tumor predisposition syndrome with the recurrence of the same germ-line SMARCB1 mutation in the sibship but not in healthy parents, suggesting that gonadal mosaicism is a less rare event than supposed. The clinical outcome in our patient confirms previous data of poorer outc...Continue Reading

References

Oct 16, 1999·American Journal of Human Genetics·N SévenetO Delattre
Mar 24, 2009·Cancer Biology & Therapy·Charles W M Roberts, Jaclyn A Biegel
Nov 11, 2009·Genes, Chromosomes & Cancer·Uwe KordesReinhard Schneppenheim
Nov 26, 2010·Pediatric Blood & Cancer·Katherine W EatonJaclyn A Biegel
Jan 7, 2011·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Franck BourdeautOlivier Delattre

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Citations

May 21, 2018·Molecular Genetics & Genomic Medicine·Hildegard Kehrer-SawatzkiVictor-Felix Mautner
Mar 29, 2020·European Journal of Human Genetics : EJHG·Ryota ShiraiMotohiro Kato
Mar 12, 2021·Frontiers in Oncology·Giada Del BaldoAngela Mastronuzzi

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