A gene signature for a long-term survivor of an atypical teratoid/rhabdoid tumor

2014 ◽  
Vol 207 (9) ◽  
pp. 420-424 ◽  
Author(s):  
Simone T. Sredni ◽  
Chiang-Ching Huang ◽  
Tatiana Pundy ◽  
Kashyap Patel ◽  
Abby L. Halpern ◽  
...  
Keyword(s):  
Gene Signature ◽  
Rhabdoid Tumor ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Atypical Teratoid ◽  
Term Survivor

Atypical teratoid rhabdoid tumor: long-term survival after chemoradiotherapy

2015 ◽  
Vol 31 (8) ◽  
pp. 1393-1399 ◽  
Author(s):  
Vivek Verma ◽  
Catrina P. Johnson ◽  
Nathan R. Bennion ◽  
Abhijeet R. Bhirud ◽  
Sicong Li ◽  
...  
Keyword(s):  
Rhabdoid Tumor ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Term Survival ◽  
Long Term Survival ◽  
Atypical Teratoid

scholarly journals Case report: long-term survival of an infant syndromic patient affected by atypical teratoid-rhabdoid tumor

BMC Cancer ◽  
2013 ◽  
Vol 13 (1) ◽  
Author(s):  
Piergiorgio Modena ◽  
Iacopo Sardi ◽  
Monica Brenca ◽  
Laura Giunti ◽  
Anna Maria Buccoliero ◽  
...  
Keyword(s):  
Case Report ◽  
Rhabdoid Tumor ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Term Survival ◽  
Long Term Survival ◽  
Atypical Teratoid

scholarly journals Evidence for a low-penetrant extended phenotype of RTPS1 from a kindred with gain of SMARCB1 exon 6

2021 ◽  
Author(s):  
Uwe Kordes ◽  
Victor Mautner ◽  
Florian Oyen ◽  
Christian Hagel ◽  
Christian Hartmann ◽  
...  
Keyword(s):  
Index Patient ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Hairy Cell ◽  
Cell Leukemia ◽  
Extended Phenotype ◽  
Wild Type ◽  
Atypical Teratoid ◽  
Reduced Penetrance ◽  
Term Survivor

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

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