以螢光原位雜交法研究肺臟軟骨缺陷瘤之染色體異常：一病例報告

Complex Chromosome Translocation of Pulmonary Chondroid Hamartoma Detected by Fluorescence in situ Hybridization: A Case Report

肺臟軟骨缺陷瘤是一種良性瘤，其主要成分為軟骨或其他間質組織以及肺臟上皮組織。目前文獻上已有21例肺臟軟骨缺陷瘤的染色體分析報告。其中以染色體6p21的異常最常見，常為t(6; 14)(p21; q24)。其次則是染色禮12ql4-15的異常。本研究報告一例肺臟軟骨缺陷瘤的染色體分析。此腫瘤在第2對染色體和第12對染色體發生互相轉位的現象，此種複雜的轉位，用傳統的分帶染色技術(Giemsa-trypsin banding)，很不易判讀。故加用雙色螢光原位雜交法，正確顯示這兩個染色體的轉位為：t(2; 12)(pl3-14; ql4-21)。此種轉位在肺臟軟骨缺陷瘤還沒有被報告過。

Pulmonary chondroid hamartorma (PCH) is a relatively rare benign tumor that generally occurs in adults and is more common in males. Clonal aberrations have been described in 21 cases of PCH. Rearrangements of chromosome band 6q21 and 12q14-15 regions are most commonly seen. We report a case of pulmonary chondroid hamartoma in a patient with the clonal aberration of a complex translocation between chromosomes 2 and 12. We performed dual-colored fluorescence in situ hybridization, which revealed: t(2; 12)(pl3-l4; ql4-21). Although chromosome 12ql4-15 rearrangement is common in PCH, translocation between chromosomes 2 and 12 has not been identified in this tumor before.