间皮瘤
BAP1型
荧光原位杂交
医学
病理
CDKN2A
胸腔积液
细胞学
癌症
放射科
内科学
生物
染色体
生物化学
基因
作者
Amber Louw,Chris Van Vliet,Joanne Peverall,Shane Colkers,Nathan Acott,Jenette Creaney,Y C Gary Lee,Siaw Ming Chai
摘要
BACKGROUND The concept of mesothelioma in situ has been revisited and is a new World Health Organization diagnostic entity. The definition centers on ancillary techniques used in pleural mesothelioma (PM) assessment. At the authors' institution, most PM diagnoses are made on cytologic specimens. Effusion samples obtained before definitive PM diagnosis were interrogated using BRCA1 ‐ associated protein 1 gene ( BAP1 ), cyclin‐dependent kinase inhibitor 2A gene ( CDKN2A ) and cytologic evaluation to assess whether early or possible in situ disease could be characterized. METHODS All cases of PM diagnosed between January 2008 and December 2019 were identified at a tertiary referral center. Patients who had a pleural fluid sample collected 24 months before the diagnosis were selected, numbering 8 in total. The cytomorphology of each sample was reviewed; and, retrospectively, BAP1 immunohistochemistry (IHC) and CDKN2A fluorescence in situ hybridization (FISH) were performed on initial and diagnostic samples. RESULTS The initial samples were deemed benign in 5 cases and atypical mesothelial proliferations in 3 cases. A spectrum of apparently normal to atypical cytomorphologic changes was identified. BAP1 loss was present in 6 of 8 initial cases, whereas CDKN2A homozygous deletion was identified in 1 of 7 initial cases. Either abnormality was identified in 7 of 8 initial samples. CONCLUSIONS Detectable abnormalities of BAP1 IHC and CDKN2A FISH were present in pleural fluid specimens before the development of cytomorphologic features diagnostic of PM. This is the largest series to date describing cytology samples early in the course of PM development, thereby highlighting a possible cytological equivalent for mesothelioma in situ.
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