Rhabdoid tumor predisposition syndrome with renal tumor 10 years after brain tumor

We report a case of rhabdoid tumor predisposition syndrome with a renal tumor developing 10 years after a brain tumor, which demonstrated an unexpectedly favorable outcome. A 2‐year‐old boy underwent gross total resection of a brain tumor located in the fourth ventricle, and received adjuvant chemot...

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Bibliographic Details
Published in:Pathology international 2021-02, Vol.71 (2), p.155-160
Main Authors: Fukushima, Hiroko, Yamasaki, Kai, Sakaida, Miho, Tsujio, Nozomi, Okuno, Takahiro, Ishii, Naomi, Okada, Keiko, Fujisaki, Hiroyuki, Matsusaka, Yasuhiro, Sakamoto, Hiroaki, Yoneda, Akihiro, Hara, Junichi, Inoue, Takeshi
Format: Article
Language:English
Subjects:
atypical teratoid/rhabdoid tumor (AT/RT)
Brain
Brain cancer
Brain tumors
Case reports
Chemotherapy
favorable outcome
Gene deletion
Genetic screening
Kidneys
late onset
Nephrectomy
Peripheral blood
Radiation therapy
rhabdoid tumor of the kidney (RTK)
rhabdoid tumor predisposition syndrome (RTPS)
SMARCB1
Tumor cells
Tumors
Ventricle
Ventricles (cerebral)
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Summary:We report a case of rhabdoid tumor predisposition syndrome with a renal tumor developing 10 years after a brain tumor, which demonstrated an unexpectedly favorable outcome. A 2‐year‐old boy underwent gross total resection of a brain tumor located in the fourth ventricle, and received adjuvant chemotherapy and radiotherapy. At the age of 11 years, a renal tumor was found and nephrectomy was performed. He is currently alive without evidence of disease over 2 years without postoperative therapy. Histologically, rhabdoid cells were observed in both brain and renal tumors. Loss of SMARCB1 (also known as INI1) expression was found in the nucleus of both tumor cells. Genetic testing revealed pathogenic variants of SMARCB1 exon 5 in the renal tumor and SMARCB1 exon 9 in the brain tumor. In addition, heterozygous deletion of 22q11.21‐q11.23 containing the SMARCB1 locus was shared by both tumors and this deletion was identified in normal peripheral blood. Considering the histopathological and genetic findings, our case was considered to be rhabdoid tumor predisposition syndrome with atypical teratoid/rhabdoid tumor and late‐onset rhabdoid tumor of the kidney.
ISSN:1320-5463
1440-1827
DOI:10.1111/pin.13056