A role for fluorescence in situ hybridization detection of chromosome 22q dosage in distinguishing atypical teratoid/rhabdoid tumors from medulloblastoma/central primitive neuroectodermal tumors.
A role for fluorescence in situ hybridization detection of chromosome 22q dosage in distinguishing atypical teratoid/rhabdoid tumors from medulloblastoma/central primitive neuroectodermal tumors.
复制标题
荧光原位杂交检测染色体 22q 剂量在区分非典型畸胎瘤/横纹肌样肿瘤与髓母细胞瘤/中央原始神经外胚层肿瘤中的作用。
作者：
L. Bruch;D. Hill;D. Cai;B. Levy;L. Dehner;A. Perry
据推测，患有髓母细胞瘤/中枢原始神经外胚层肿瘤（MB/PNET）的婴儿可能比老年患者的情况更糟，因为他们中的一些人患有未被识别的非典型畸胎瘤/横纹肌样肿瘤（AT/RT），这是一种罕见的颅内肿瘤，通常对治疗无反应并迅速致命。虽然小的原始细胞是共同的实体，染色体22q11.2缺失是常见的AT/RT。使用荧光原位杂交（FISH）的档案，石蜡包埋活检组织与市售探针22q11.2，区域与RT，我们研究了8例AT/RT，12例MB/PNET，和4例原始中枢神经系统（CNS）肿瘤，这是很难分类。在8例常规AT/RT中有6例（75%）和12例经典MB/PNET儿童中有0例（0%）发现22 q缺失。在4例最初“难以分类”的病例中，3例存在22 q缺失。根据FISH结果，对形态学和免疫表型进行审查，结果3例肿瘤被重新分类为AT/RT，1例被重新分类为大细胞MB。这4例病例强调了FISH在儿童原发性CNS恶性肿瘤的选定病例中的潜在诊断用途，并证实了误诊的AT/RT可能部分导致2岁以下儿童与“MB/PNET”相关的预后较差的观点。
It has been postulated that infants with medulloblastomas/central primitive neuroectodermal tumors (MB/PNET) may fare worse than older patients because some of them harbor unrecognized atypical teratoid/rhabdoid tumors (AT/RT), rare intracranial neoplasms that are typically unresponsive to therapy and rapidly fatal. Although small primitive cells are common to both entities, chromosome 22q11.2 deletions are common only in AT/RTs. Using fluorescence in situ hybridization (FISH) on archival, paraffin-embedded biopsy tissue with commercially available probes to 22q11.2, the region associated with RTs, we studied 8 cases of AT/RT, 12 cases of MB/PNET, and 4 cases of primitive central nervous system (CNS) neoplasms, which were difficult to classify. 22q Deletions were identified in 6 of 8 (75%) conventional AT/RTs and 0 of 12 (0%) children with classic MB/PNET. Of the 4 originally "difficult to classify" cases, 3 had deletions of 22q. In light of the FISH results, review of the morphology and immunophenotype resulted in 3 tumors being reclassified as AT/RTs and 1 as a large cell MB. These 4 cases highlight the potential diagnostic use of FISH for selected cases of primitive CNS malignancies in children and substantiate the notion that misdiagnosed AT/RTs may, in part account for the worse prognosis associated with "MB/PNET" in children younger than 2 years of age.
影响因子：
11.2
作者：
J. Biegel;Jun Zhou;L. Rorke;C. Stenstrom;L. Wainwright;Benjamin Fogelgren
通讯作者：
J. Biegel;Jun Zhou;L. Rorke;C. Stenstrom;L. Wainwright;Benjamin Fogelgren