Solé F, Salido M, Espinet B, Garcia J L, Martinez Climent J A, Granada I, Hernández J M, Benet I, Piris M A, Mollejo M, Martinez P, Vallespí T, Domingo A, Serrano S, Woessner S, Florensa L
Laboratori de Citologia Hematològica, Laboratori de Referència de Catalunya, Departament de Patologia, Hospital del Mar, IMAS, IMIM, Passeig Maritim, 25-29, 08003 Barcelona, Spain.
Haematologica. 2001 Jan;86(1):71-7.
Splenic marginal zone B-cell lymphoma (SMZBCL) has clinical, immunophenotypic and histologic features distinct from other B-cell malignancies, but few chromosome studies have been previously reported. In the present study we performed conventional cytogenetics and in situ hybridization studies in 47 patients with SMZBCL.
We studied 47 cases of splenic marginal zone B-cell lymphoma combining conventional cytogenetics and in situ hybridization (ISH) techniques using centromeric probes (chromosomes 3 and 12), locus specific probes (7q31 and 17p13) and cross-species color banding fluorescent ISH probes (RxFISH). The diagnosis of SMZBCL was ascertained in all cases after studying, morphologically and immunologically, peripheral blood and splenectomy specimens.
A clonal chromosome abnormality detected by conventional cytogenetics and/or FISH was found in 33/47 patients (70%) being identified in 18 (18/33, 55%) as a complex abnormality. The most frequently recurrent abnormalities were: gain of 3q (10 cases), del(7q) (12 cases), and involvement of chromosomes 1, 8 and 14. No patient showed translocation t(11;14) (q13;q32) or t(14;18) (q21;q32). Trisomy 3 was detected in eight cases (8/47, 17%). Two novel cytogenetic abnormalities involving 14q32, t(6;14)(p12;q32) and t(10;14) (q24;q32) were reported. Deletion of 17p13 (P53) was observed by FISH in one case. Only one patient showed a gain of 3q or trisomy 3 and deletion 7q in the same karyotype.
Our findings support the interpretation that two forms of SMZBCL could be considered, one with gain of 3q and the other with deletions at 7q.
脾边缘区B细胞淋巴瘤（SMZBCL）具有与其他B细胞恶性肿瘤不同的临床、免疫表型和组织学特征，但此前鲜有染色体研究报道。在本研究中，我们对47例脾边缘区B细胞淋巴瘤患者进行了传统细胞遗传学和原位杂交研究。
我们采用着丝粒探针（3号和12号染色体）、基因座特异性探针（7q31和17p13）以及跨物种彩色带型荧光原位杂交探针（RxFISH），结合传统细胞遗传学和原位杂交（ISH）技术，对47例脾边缘区B细胞淋巴瘤病例进行了研究。在对所有病例的外周血和脾切除标本进行形态学和免疫学研究后，确诊为SMZBCL。
通过传统细胞遗传学和/或荧光原位杂交检测到33/47例患者（70%）存在克隆性染色体异常，其中18例（18/33，55%）被鉴定为复杂异常。最常见的复发性异常为：3q增益（10例）、7q缺失（12例）以及1、8和14号染色体受累。无患者出现t(11;14)(q13;q32)或t(14;18)(q21;q32)易位。8例患者（8/47，17%）检测到3号染色体三体。报道了两种涉及14q32的新型细胞遗传学异常，即t(6;14)(p12;q32)和t(10;14)(q24;q32)。通过荧光原位杂交在1例患者中观察到17p13（P53）缺失。仅1例患者在同一核型中出现3q增益或3号染色体三体以及7q缺失。
我们的研究结果支持以下观点，即脾边缘区B细胞淋巴瘤可分为两种类型，一种伴有3q增益，另一种伴有7q缺失。
