Morphology with immunohistochemical and genetic profiling of high-grade neuroendocrine carcinoma of colon - a case report with review of literature

Vol. 58 No. 2, 2017

ROMANIAN JOURNAL of MORPHOLOGY and EMBRYOLOGY

Andrzej Wincewicz, Artur Kowalik, Sebastian Zieba, Stanislaw Sulkowski, Stanislaw Gozdz

Here we present a challenging case of a hepatic flexure colon tumor of 61-year-old woman with no primary lesion of lung cancer. Immunohistochemistry was applied and 50 genes were analyzed by next-generation sequencing (NGS) technology. The tumor contained medium to large size neoplastic cells with evident nucleoli to be diagnosed poorly differentiated neuroendocrine predominantly large cell carcinoma of colon [G3: World Health Organization (WHO) 2010] (pT3 N0: 7th edition pTNM). Cytokeratin (CK) AE1/AE3 staining was predominantly membranous with partial distribution in dot-like pattern in perinecrotic cancer fields to be reminiscent of small cell carcinoma. Ki67 labeled over 90% of cancer cells with partial positive nuclear staining for thyroid transcription factor-1 (TTF-1). Using NGS, the following mutations were detected: nonsense mutations in four tumor suppressor genes [APC R1114X (molecular argument that the cancer was a primary tumor of colon), TP53 R213X, RB1 E137X and FBWX7 R393X and S282X], mutations in three receptor tyrosine kinases (RET A919V of high transforming activity, EGFR E114K and FLT3 L601I) well known as oncogenes.

Corresponding author: Andrzej Wincewicz, MD; e-mails: ruahpolin@yahoo.com, andwinc@gmail.com

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