Evidence for a low-penetrant extended phenotype of RTPS1 from a kindred
with gain of SMARCB1 exon 6
Abstract
We report on a long-term survivor of an atypical teratoid/rhabdoid tumor
(ATRT-TYR) as an index patient, who carries a SMARCB1 exon 6 gain
inherited from his father. The father was diagnosed with an unusual
sequence of a myxopapillary INI1-negative ependymoma and a relapsing
BRAF V600 wild type hairy-cell leukemia. He has two yet healthy sisters
aged 33 and 38 years carrying the same variant, from which one had lost
an infant to a malignant brain tumor. This family highlights the
existence of RTPS1-associated SMARCB1 germline alterations with reduced
penetrance and extends the spectrum of involved diseases