Yonescu Raluca, Hristov Alexandra C, Ahmad Aqeel, Overby Amy, Thomas George H, Griffin Constance A
Department of Pathology, Park SB202, The Johns Hopkins University, 600 North Wolfe Street, Baltimore, MD 21287, USA.
Cancer Genet Cytogenet. 2008 Jun;183(2):125-30. doi: 10.1016/j.cancergencyto.2008.02.014.
Natural killer (NK) cell neoplasms are rare neoplasms characterized by cells with NK characteristics. Few descriptions of the karyotype of this tumor are available. We describe a case with sequential analysis of the karyotype over a 3-month period. Cytogenetic analyses performed on specimens from the patient's peripheral blood and bone marrow generated similar results. Karyotype of the unstimulated peripheral blood at diagnosis was 46,XX,i(7)(q10),der(17)t(1;17)(q21;p11.1),-18,+mar[15]. Notably, a single cell with only an i(7q) was found, suggesting that this was the primary chromosomal abnormality in the neoplasm. The second specimen, 2 weeks later, was from bone marrow. Both the i(7q) and der(17) were present in two clones, which differed from each other in having two distinct derivative chromosomes 10. In one clone, the additional material on the short arm of chromosome 10 appears to have originated from either chromosome 1p or chromosome 22q, whereas for the second clone the donor of the additional material is most likely chromosome 8q. Thus, the karyotype for the bone marrow specimen is 46,XX,i(7)(q10),add(10)(p11.2),der(17)t(1;17)(q21;p11.1)[8]/46,XX,i(7)(q10),der(10)t(8;10)(q21;p12),der(17)t(1;17)(q21;p11.1)[3]/46,XX[14]. A final bone marrow specimen, after chemotherapy and shortly before the patient's death, showed abnormalities similar to those identified previously. The abnormalities seen in chromosomes 7 and 17 are consistent with previous reports of chromosomal abnormalities in NK-cell lymphomas.
自然杀伤（NK）细胞肿瘤是一种罕见肿瘤，其特征是细胞具有NK细胞特性。关于这种肿瘤核型的描述很少。我们描述了一例在3个月内对核型进行连续分析的病例。对患者外周血和骨髓标本进行的细胞遗传学分析产生了相似的结果。诊断时未刺激外周血的核型为46,XX,i(7)(q10),der(17)t(1;17)(q21;p11.1),-18,+mar[15]。值得注意的是，发现了一个仅带有i(7q)的单细胞，这表明这是肿瘤中的主要染色体异常。两周后的第二个标本来自骨髓。i(7q)和der(17)存在于两个克隆中，它们在具有两条不同的衍生10号染色体方面彼此不同。在一个克隆中，10号染色体短臂上的额外物质似乎源自1号染色体短臂或22号染色体长臂，而对于第二个克隆，额外物质的供体最可能是8号染色体长臂。因此，骨髓标本的核型为46,XX,i(7)(q10),add(10)(p11.2),der(17)t(1;17)(q21;p11.1)[8]/46,XX,i(7)(q10),der(10)t(8;10)(q21;p12),der(17)t(1;17)(q21;p11.1)[3]/46,XX[14]。化疗后且在患者死亡前不久的最后一份骨髓标本显示出与先前发现的异常相似的异常情况。7号和17号染色体上出现的异常与先前关于NK细胞淋巴瘤染色体异常的报道一致。
