Cokelaere K, Debiec-Rychter M, De Wolf-Peeters C, Hagemeijer A, Sciot R
Department of Pathology, University Hospital St Raphael, Katholieke Universiteit Leuven, Leuven, Belgium.
Am J Surg Pathol. 2002 May;26(5):662-9. doi: 10.1097/00000478-200205000-00013.
Chromosomal aberrations involving chromosome segment 12q13-15 are a common finding in a variety of benign mesenchymal tumors. The target gene encodes for HMGIC, a member of the high mobility group protein family. These proteins act as architectural transcription factors. HMGIC plays a role as a common genetic denominator in benign mesenchymal tumorigenesis. We report a case of hyaline vascular Castleman's disease with intragenic HMGIC rearrangement, due to a clonal cytogenetic aberration involving the long arm of chromosome 12 [46,XX, add(1)(q21),der(6)t(6;12) (q23;q15),add(7)(p22), -9,inv(9)(p11q13),del(12)(q15),+mar] obtained after short-term primary cultures. A combined immunocytologic-cytogenetic approach enabled us to demonstrate the exclusive presence of HMGIC rearrangement in anti-CD21 reactive follicular dendric cells. This finding confirms that a clonal proliferation of follicular dendritic cells occurs in the hyaline vascular variant of Castleman's disease. It also provides a possible molecular pathway explaining stromal overgrowths and stromal neoplasms developing from this disorder.
涉及染色体12q13 - 15区段的染色体畸变在多种良性间叶性肿瘤中很常见。靶基因编码HMGIC，它是高迁移率族蛋白家族的一员。这些蛋白作为结构转录因子发挥作用。HMGIC在良性间叶性肿瘤发生过程中作为一个共同的遗传因素发挥作用。我们报告了一例玻璃样变血管型Castleman病伴HMGIC基因内重排的病例，该重排源于短期原代培养后获得的涉及12号染色体长臂的克隆性细胞遗传学畸变[46,XX, add(1)(q21),der(6)t(6;12)(q23;q15),add(7)(p22), -9,inv(9)(p11q13),del(12)(q15),+mar]。联合免疫细胞化学 - 细胞遗传学方法使我们能够证明抗CD21反应性滤泡树突状细胞中仅存在HMGIC重排。这一发现证实了Castleman病玻璃样变血管型中滤泡树突状细胞的克隆性增殖。它还提供了一条可能的分子途径来解释由此疾病发展而来的基质过度生长和基质肿瘤。
