cyclin-d1 and Thoracic-Neoplasms

Most mantle cell lymphoma patients show remarkable disseminated disease at the initial diagnosis. We describe two cases of mantle cell lymphoma mainly involving thoracic lesions at the initial presentation of the disease. The clinical presentations were right hilar lymphadenopathy in one case and right pleural thickness in the other. The diagnosis of mantle cell lymphoma was confirmed by immunohistochemistry, including CD5, CD20, and cyclin D1, and the presence of t(11 ; 14)(q13 ; q32) by fluorescence in situ hybridization. These thoracic manifestations at the initial diagnosis should be taken into consideration for the clinical spectrum of mantle cell lymphoma.

Topics: Aged; Antigens, CD20; Antineoplastic Combined Chemotherapy Protocols; CD5 Antigens; Chromosomes, Human, Pair 11; Chromosomes, Human, Pair 14; Cyclin D1; Humans; Immunohistochemistry; In Situ Hybridization, Fluorescence; Lymphoma, Mantle-Cell; Male; Thoracic Neoplasms; Tomography, X-Ray Computed; Translocation, Genetic

We report a case of intrathoracic desmoid tumor without familial adenomatous polyposis and demonstrate beta-catenin mutation of exon 3. A 15-year-old male presented with a desmoid tumor after having sustained an assault. In an examination for a mutation of the beta-catenin gene, an activating mutation from ACC (Thr) to GCC (Ala) at codon 41 was found. Immunohistochemical staining showed that accumulated beta-catenin protein was predominantly localized in the nuclei of desmoid cells, and cyclin D1 protein was also overexpressed. These findings might suggest that an activating mutation of the beta-catenin gene affected regulation of the cyclin D1 gene, resulting in the generation of intrathoracic sporadic desmoid tumor, which arose at the site of posttraumatic injury.

Topics: Adolescent; beta Catenin; Cyclin D1; Exons; Fibromatosis, Aggressive; Gene Expression Regulation; Humans; Male; Mutation; Thoracic Neoplasms; Tomography, X-Ray Computed