Shin Hyung Ju C, Shin Dong M, Tarco Emily, Sneige Nour
Department of Pathology, The University of Texas M. D. Anderson Cancer Center, Houston, Texas, USA.
Cancer. 2003 Aug 25;99(4):233-9. doi: 10.1002/cncr.11398.
Accurate diagnosis of malignant mesothelioma (MM) in effusion fluid specimens can be challenging. Previous cytogenetic studies demonstrated that chromosomal aneusomy is commonly associated with MM. The authors attempted to determine whether the detection of numerical chromosomal aberrations in the effusion fluid specimens could be a useful diagnostic adjunct in morphologically inconclusive cases for MM.
The authors analyzed 17 cytologic specimens (15 pleural fluids, 2 fine-needle aspirates) of histologically confirmed MM obtained from 16 patients using fluorescent in situ hybridization (FISH) with centromeric chromosome 7 and 9 probes. Seventeen benign pleural effusion fluid specimens containing reactive/benign mesothelial (RM) cells were used as controls. After destaining of Diff-Quik-stained smears, the slides were hybridized using a standard FISH protocol. One hundred cells/probe/case were counted manually.
For chromosome 7, polysomy (defined as >/= 3 signals/nucleus in >10% of the cells) was present in 88% and 0% of the MM and the RM cases, respectively. Trisomy (defined as 3 signals/nucleus in > 5% of the cells) was present in 77% and 0% of the MM and the RM cases, respectively. Tetrasomy (defined as 4 signals/nucleus in > 10% of the cells) was present in 29% and 0% of the MM and the RM cases, respectively. The mean values of positive cells showing polysomy 7 and trisomy 7 were markedly different in MM and RM cases (39% vs. 4% and 31% vs. 1%, respectively). The frequency of polysomy 9 and trisomy 9 in MM and RM cases was 69% vs. 13% and 62% vs. 6%, respectively.
These results suggest that polysomy of chromosome 7 or 9 is a common finding in MM but uncommon in RM. Therefore, in conjunction with cytomorphologic and clinical suspicion of MM, detection of numerical chromosomal aberrations of chromosome 7 using FISH with routine cytologic smears can be a valuable diagnostic adjunct.
在积液标本中准确诊断恶性间皮瘤（MM）可能具有挑战性。先前的细胞遗传学研究表明，染色体非整倍体通常与MM相关。作者试图确定在积液标本中检测染色体数目异常是否可作为MM形态学诊断不明确病例的有用辅助诊断方法。
作者使用着丝粒染色体7和9探针，通过荧光原位杂交（FISH）分析了16例患者的17份经组织学确诊的MM细胞学标本（15份胸水，2份细针穿刺抽吸物）。17份含有反应性/良性间皮（RM）细胞的良性胸腔积液标本用作对照。在对Diff-Quik染色涂片进行脱色后，使用标准FISH方案对玻片进行杂交。每个病例/探针手动计数100个细胞。
对于染色体7，多体性（定义为>10%的细胞中>/=3个信号/细胞核）在MM病例和RM病例中的出现率分别为88%和0%。三体性（定义为>5%的细胞中3个信号/细胞核）在MM病例和RM病例中的出现率分别为77%和0%。四体性（定义为>10%的细胞中4个信号/细胞核）在MM病例和RM病例中的出现率分别为29%和0%。MM病例和RM病例中显示多体性7和三体性7的阳性细胞平均值明显不同（分别为39%对4%和31%对1%）。MM病例和RM病例中多体性9和三体性9的频率分别为69%对13%和62%对6%。
这些结果表明，染色体7或9的多体性在MM中常见，但在RM中不常见。因此，结合MM的细胞形态学和临床怀疑，使用FISH结合常规细胞学涂片检测染色体7的数目异常可作为有价值的辅助诊断方法。
