Whole-genome sequencing analysis of an atypical teratoid/rhabdoid tumor in a patient with Phelan?McDermid syndrome: a case report and systematic review
Whole-genome sequencing analysis of an atypical teratoid/rhabdoid tumor in a patient with Phelan?McDermid syndrome: a case report and systematic review
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Phelan?McDermid 综合征患者非典型畸胎瘤/横纹肌样瘤的全基因组测序分析：病例报告和系统评价
DOI：
10.1007/s10014-022-00440-7
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发表时间：
2022
影响因子：
3.3
通讯作者：
Miy
中科院分区：
文献类型：
--
作者：
Yamashita Haruki;Arakawa Yoshiki;Terada Yukinori;Takeuchi Yasuhide;Mineharu Yohei;Sumiyoshi Sosuke;Tokunaga Shinya;Nakajima Kohei;Kawabata Naoko;Tanaka Kuniaki;Tanji Masahiro;Umeda Katsutsugu;Minamiguchi Sachiko;Ogawa Seishi;Haga Hironori;Takita Junko;Miy
非典型畸胎样/横纹肌样肿瘤（AT/RT）是一种罕见的小儿脑肿瘤，位于22q11.2的SMARCB 1异常。我们报告了一例AT/RT合并PMS的病例，其特征为先天性发育障碍、智力低下和22号环状染色体22q13.3-qter缺失，我们对其进行了全基因组测序（WGS）。一名患有发育障碍的4岁女孩因烦躁不安被转介到我院。脑磁共振成像显示一个5厘米的界限分明的肿块，在额叶两侧延伸。由于有发育迟缓史，术前进行了G显带。观察到22号环状染色体和22q13.3-qter缺失，诊断为PMS。她接受了肿瘤的大体全切除术，病理诊断为AT/RT。WGS显示肿瘤中存在体细胞SMARCB 1突变（p.R201X）和整个22号染色体的体细胞丢失，但血液样本中没有。WGS证实了肿瘤进展过程中先前未发现的BRCA 2突变、6 q缺失和14 q获得，但没有其他与肿瘤进展相关的显著发现。目前的情况下进行了讨论，参考以往的报告与PMS相关的AT/RT的系统性审查。对22号环状染色体的PMS患者应密切随访AT/RT的发生情况。
Atypical teratoid/rhabdoid tumor (AT/RT) is a rare pediatric brain tumor with abnormalities inSMARCB1located in 22q11.2. We report a case of AT/RT associated with Phelan–McDermid syndrome (PMS) characterized by congenital developmental disorder, mental retardation, and ring chromosome 22 with 22q13.3-qter depletion, for which we performed whole-genome sequencing (WGS). A 4-year-old girl with a developmental disability was referred to our hospital due to dysphoria. Brain magnetic resonance imaging showed a 5-cm well-demarcated mass that extended bilaterally in the frontal lobes. G-banding was performed preoperatively due to a history of developmental retardation. Ring chromosome 22 and deletion of 22q13.3-qter were observed, and she was diagnosed with PMS. She underwent gross total resection of the tumor, and the pathological diagnosis was AT/RT. WGS showed somaticSMARCB1mutation (p.R201X) and somatic loss of the entire chromosome 22 in the tumor, but not in the blood sample. WGS confirmed previously unreportedBRCA2mutations, 6q loss, and 14q acquisition during tumor progression, but no other significant findings associated with tumor progression. The present case is discussed with reference to a systematic review of previous reports of AT/RT associated with PMS. PMS patients with ring chromosome 22 should be carefully followed up for AT/RT occurrence.