PMC9386481_01
Histological review of the uveal melanoma (A, haematoxylin and eosin staining, 100x original magnification) and renal carcinoma (C, haematoxylin and eosin staining, 100x original magnification). In both tumours, BAP1 was negative by immunohistochemistry (B, D, immunohistochemistry, 200X).
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In 1992, the patient was surgically treated for uveal melanoma of the right eye (Figure 1), which recurred in 2012. Moreover, in the same year, he underwent nephrectomy for right clear cell renal cancer (Figure 1).
Histological examination of the pleural samples, showing a neoplastic proliferation composed of both epithelioid and spindle cells (A, haematoxylin and eosin staining, 100x) that was immunoreactive for calretinin (B, immunohistochemistry, 200x) and negative for BAP1 (C, immunohistochemistry, 100x), with CDKN2A/p16 deletion visualized via FISH analysis (D).
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FISH analysis was performed as previously described and revealed the presence of a deletion in the 9p21 locus of the CDKN2A gene in > 20% of neoplastic cells (Figure 2).
PMC9386481_02
Familial history of neoplasia in the patient's relatives (A). The histological review of the son's colorectal carcinoma sample showed adenocarcinoma (B, haematoxylin and eosin staining, 100x original magnification) that was negative for BAP1 expression (C, immunohistochemistry, 100x original magnification).
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Colorectal cancer recurred in 2021 with lung metastases (Figure 3). Specifically, the patient's father, sister, and brother died of liver cancer, and two other siblings died of laryngeal and lung cancer (Figure 3).
Sanger sequencing electropherogram and IGV alignment of the BAP1 variant c.535C>T.
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The variant was validated using Sanger sequencing (Figure 4).