复发性非典型畸胎样/横纹肌样肿瘤中CDKN1C的缺失
Loss of CDKN1C in a Recurrent Atypical Teratoid/Rhabdoid Tumor.
作者信息
Tran Dustin, Camelo-Piragua Sandra, Gupta Avneesh, Gowans Kate, Robertson Patricia L, Mody Rajen, Koschmann Carl
机构信息
Departments of *Pediatrics, Division of Pediatric Hematology-Oncology †Pathology §Pediatrics, Division of Neurology, University of Michigan, Ann Arbor ‡Division of Pediatric Hematology-Oncology, Beaumont Hospital, Royal Oak, MI.
出版信息
J Pediatr Hematol Oncol. 2017 Nov;39(8):e466-e469. doi: 10.1097/MPH.0000000000000873.
Atypical teratoid/rhabdoid tumor (AT/RT) is a malignant tumor that is commonly associated with biallelic alterations of SMARCB1. Recurrent or refractory AT/RT has not been molecularly characterized as well. We present the case of a child with recurrent AT/RT who underwent clinically integrated molecular profiling (germline DNA and tumor DNA/RNA sequencing). This demonstrated a somatic lesion in CDKN1C alongside hallmark loss of SMARCB1. This data allowed us to explore potential personalized therapies for this patient and expose a molecular driver that may be involved in similar cases.
非典型畸胎样/横纹肌样瘤（AT/RT）是一种恶性肿瘤，通常与SMARCB1的双等位基因改变有关。复发性或难治性AT/RT也尚未进行分子特征分析。我们报告了一例复发性AT/RT患儿的病例，该患儿接受了临床综合分子分析（种系DNA和肿瘤DNA/RNA测序）。这显示CDKN1C存在体细胞病变，同时伴有SMARCB1特征性缺失。这些数据使我们能够探索针对该患者的潜在个性化治疗方法，并揭示可能在类似病例中起作用的分子驱动因素。
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