Primary anal goblet cell adenocarcinoma with perianal Paget's disease:a histological and molecular pathological study of two cases
Objective To investigate the histological and molecular pathological features of primary anal goblet cell adenocarcinoma(GCA)with perianal Paget's disease.Methods The clinical data of two cases of primary anal GCA with perianal Paget's disease were retrospectively analyzed.HE staining,immunohistochemistry and next generation sequencing were used to study the histological and molecular pathological features of primary lesions,perianal Paget's disease and lymph node metastasis.Results Both patients were admitted to the hospital due to progressive enlargement of perianal masses,and under microscope,they had typical histological and immunohistochemical characteristics of GCA.The primary GCA of the anal canal showed a typical cord-like and solid sheet-like arrangement,and a large number of"mucoid lake"like structures were visible around the tumor cell nests,resembling classic mucinous carcinoma.Simple or complex glandular-like structures were visible,resembling classic colorectal tubular adenocarcinoma.Some tumor cells with nuclear deviation and cytoplasm rich in mucoid substances showed single scattered invasive growth,resembling classic"signet ring cell carcinoma".Secondary perianal Paget's disease in anal canal GCA showed a large number of"signet ring cell"with nuclear deviation and cytoplasm rich in mucoid substances in situ invasive growth in stratified squamous epithelium with focal squamous epithelial papillomatous hyperplasia and Pinkus fibroepithelioma like changes.The histologic types of lymph node metastatic cancer and primary lesions of anal canal were similar,with relatively simple histomorphology and low heterogeneity among tumor cells.ErbB3 mutations were detected in all tumor tissues of cases 1 and 2,but Kras,Nras,braf mutations and microsatellite instability(MSI)were not detected.Conclusion GCA of the anal canal is similar to neoplasms of the appendix in morphology,immunophenotype and molecular pathology.It has similar histological features to classic tubular adenocarcinoma,mucinous carcinoma and signet ring cell carcinoma.
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