Proteomics and genomics of a monomorphic epitheliotropic intestinal T-cell lymphoma: An extremely rare case report and short review of literature.

RATIONALE: Monomorphic epitheliotropic intestinal T-cell lymphoma, formerly known as enteropathy-associated T-cell lymphoma, is an extremely rare, aggressive peripheral extranodal T-cell lymphoma, that is infrequent in native European and Caucasian populations. The current study presents the clinicopathological features, diagnostic approach, and clinical outcomes of this rare entity of lymphoma and highlights the importance of the early diagnosis of monomorphic epitheliotropic intestinal T-cell lymphoma (MEITL). PATIENT CONCERNS: Main symptoms and/or important clinical findings: We present the case of a 69-year-old male patient presenting with an abdominal mass, intestinal transit disorder, and weight loss. The abdominal computed tomography (CT) revealed features suggestive of a malignancy. Following clinical and imaging investigations, surgical resection of the small intestine with other areas of involvement has been performed and further to the histopathological examination and immunohistochemical testing are mandatory. DIAGNOSES AND INTERVENTIONS: Histopathological evaluation of the tumor revealed a proliferation of medium- to large-sized monomorphic lymphocytes, with vesicular nuclei, prominent nucleoli, and a moderate amount of clear to pale eosinophilic cytoplasm, with an association of infrequent Reed-Sternberg-like cells. Immunohistochemical assessment of the aforementioned tumor using CD3, CD8, CD5, CD20, and CD30 confirmed the T cell proliferation line and the monomorphic epitheliotropic intestinal T-cell lymphoma diagnosis. LESSONS: The current report highlights the importance of early diagnosis of MEITL owing to its poor prognosis and presents histopathological features that help distinguish MEITL from inflammatory bowel diseases and less aggressive T-cell lymphomas.

KRAS, NRAS, BRAF, PIK3CA, and AKT1 signatures in colorectal cancer patients in south-eastern Romania.

Somatic mutations in the oncogenes of the epidermal growth factor receptor signaling pathway play vital roles in colorectal carcinogenesis and have been closely linked with clinical resistance to monoclonal therapy. In this study, we have analyzed the mutation frequencies of 5 genes and compared the genetic findings with clinicopathological variables in order to determine diagnostically relevant alterations and compare these findings with those of other studies In our Sanger sequencings, KRAS (exons 2, 3, and 4), NRAS (exons 2, 3, and 4), PIK3CA (exons 9 and 20), BRAF (exon 15), AKT1 (exon 2) genes, and microsatellite instability (MSI) status were analyzed using an ABI 3500 analyzer in a cohort of 58 Romanian colorectal cancer (CRC) patients who underwent surgical resection at Emergency County Clinical Hospital in Constanța, Romania. In our series, mutation rates of KRAS, BRAF, PIK3CA, and AKT1 genes were 39.63%, 8.62%, 6.88%, and 3.44%, respectively. By contrast, we did not find any tumor harboring mutation in the NRAS gene. Notably, the KRAS and PIK3CA mutations were not mutually exclusive, 1 patient harbored 2 mutations in exon2, codon 12 (Gly12Val) of KRAS and exon 20, codon 1047 (His1047Arg) of PIK3CA. The finding of our study are generally consistent with data found in the literature. Regarding to clinicopathological variables, mutation of KRAS was associated with distant metastasis at the time of diagnosis, while mutation of BRAF was significantly associated with MSI-H in contrast with MSI-L/MSS tumors. Moreover, PIK3CA mutation tends to be located in the proximal segment of the colon and to be well/moderately differentiated compared to wild-type tumors. In conclusion, the assessment of these mutations suggests that CRC patients from southeast Romania exhibit a mutation profile similar to other populations. These results could contribute to creating a better method of qualifying patients for molecularly targeted therapies and obtaining better screening strategies.