Hayashi T, Ohno H, Yamabe H, Nasu K, Miyaoka K, Fujii H, Akaogi T, Konishi H, Maseki N, Akasaka T
Department of Internal Medicine, Faculty of Medicine, Kyoto University, Japan.
Int J Hematol. 1994 Jun;59(4):281-96.
BCL1/PRAD1 is the gene locus involved in the t(11;14)(q13;q32) translocation, which often occurs in a proposed subtype of non-Hodgkin's lymphoma of B-cell phenotype (B-NHL), named mantle cell lymphoma (MCL). When 67 Japanese patients with B-NHL were examined using two separate probes composed of the BCL1 MTC probe and the PRADI cDNA probe, rearrangement of BCL1/PRAD1 or overexpression of PRAD1 was detected in 11 patients. Among 13 patients with MCL, 8 had the abnormalities (61%) and the MTC probe detected the BCL1 rearrangement in 5 (38%). Five of the 6 MCL patients studied (83%) showed PRAD1 overexpression. These frequencies were compatible with those reported for Western patients. Although the remaining three with BCL1/PRAD1 abnormalities were diagnosed as having other histologies, 11 patients had advanced diseases, with dissemination to the extranodal sites. Except for one with diffuse large cell lymphoma, they had a slowly progressive disease, and none of the patients displayed clinical or pathological transformation. The tumor cells usually expressed CD5 and lacked CD10. The cells were completely uniform in the expression of IgM and/or IgD, and in the absence of C mu gene deletion. It thus appears that B-malignancies involving the BCL1/PRAD1 locus constitute a refined disease entity.
BCL1/PRAD1是与t(11;14)(q13;q32)易位相关的基因位点，该易位常发生于一种推测的B细胞表型非霍奇金淋巴瘤（B-NHL）亚型，即套细胞淋巴瘤（MCL）中。当使用由BCL1 MTC探针和PRADI cDNA探针组成的两种不同探针检测67例日本B-NHL患者时，在11例患者中检测到BCL1/PRAD1重排或PRAD1过表达。在13例MCL患者中，8例有异常（61%），MTC探针在5例（38%）中检测到BCL1重排。在研究的6例MCL患者中，5例（83%）显示PRAD1过表达。这些频率与西方患者报道的频率相符。虽然其余3例有BCL1/PRAD1异常的患者被诊断为其他组织学类型，但11例患者患有晚期疾病，已扩散至结外部位。除1例弥漫性大细胞淋巴瘤患者外，他们的疾病进展缓慢，且无一例患者出现临床或病理转化。肿瘤细胞通常表达CD5且缺乏CD10。细胞在IgM和/或IgD表达以及无Cμ基因缺失方面完全一致。因此，涉及BCL1/PRAD1位点的B恶性肿瘤似乎构成了一种精确的疾病实体。
