The aim of the study was to further elucidate the immunohistochemical and genetic characteristics of cribriform adenocarcinoma of minor salivary glands (CAMSG). The study comprised five CAMSG from two males and three females, aged 21-72 years. Four tumors were localized at the base of tongue and one in the floor of mouth. At the time of diagnosis, four tumors had metastasised to regional lymph nodes. After tumor resection, two patients were treated by radiotherapy and one by chemoradiotherapy. During the follow-up (median 14 months), two patients developed lymph node metastasis. Microscopically, all tumors showed cribriform, papillary, follicular, and microcystic growth patterns. The tumor cells displayed vesicular nuclei with intranuclear grooves. Immunohistochemically, all tumors showed expression of cytokeratin (CK) 7, CK8, CK18, vimentin, smooth muscle actin, calponin, S-100 protein, and p16 protein. In addition, we observed expression of galectin-3, CK19, and HBME-1, but not of thyroglobulin and TTF-1. No mutations of RET, BRAF, K-RAS, H-RAS, and N-RAS proto-oncogenes were detected. However, in RET proto-oncogene, we found polymorphisms Gly691Ser (exon 11) and Ser904Ser (exon 15) in one case, p.Leu769Leu (exon 13) in one case, and variant p.IVS14-24 G/A of intron 14 in two cases, and in H-RAS proto-oncogene we found polymorphism 81 T-C (exon 1) in three cases. Thyroglobulin and TTF-1 are the only useful markers in the differential diagnosis between CAMSG and papillary thyroid carcinoma as both tumors may express galectin-3, CK19, and HBME-1. The RET, H-RAS, and N-RAS proto-oncoogenes are not mutated in CAMSG.
The BCOR-CCNB3 positive sarcoma is a recently identified sarcoma morphologically and clinically similar to Ewing sarcoma in adolescents and young adults. The BCOR-CCNB3 fusion transcript originates from a paracentric inversion on the X chromosome with an in-frame fusion between the last codon of BCOR and the exon 5 of CCNB3 gene. We report morphological and molecular genetic analysis of 8 undifferentiated sarcomas positive for the BCOR-CCNB3 fusion. Six of the eight BCOR-CCNB3 positive sarcoma patients were male. Five of the eight patients were in their second decade of life (median of all patients 14 years at diagnosis). The bone marrow involvement was demonstrated in 2 of 4 patients tested. Detection of the fusion transcripts BCOR-CCNB3 in the bone marrow suggests that patients with positive findings are at high risk of the tumor progression.
Hypereozinofi lní syndrom (HES) je vzácné onemocnění charakterizované perzistující hypereozinofi lií (HE) (˃ 1,5 × 10 9 /l), infi ltrací a poškozením orgánů, jehož hlavní příčina není sekundární (reaktivní) HE. Je součástí heterogenní skupiny hypereozinofi lních onemocnění (hypereosinophilic disorders, HD). Kardiovaskulární postižení se vyskytuje u 40-50 % pacientů s HES a je spojeno s významnou morbiditou a mortalitou. Mezi projevy onemocnění patří srdeční selhání, intrakardiální trombózy, myokarditidy, arytmie a chlopenní vady. První projev může být fatální kardiogenní šok. V kazuistice popisujeme případ pacienta, který se prezentoval významnou mitrální regurgitací. Až po chirurgickém řešení, implantaci trvalého kardiostimulátoru pro úplnou atrioventrikulární (AV) blokádu byl diagnostikován idiopatický HES, který byl léčen kortikoterapií. V dalším průběhu došlo k rozvoji dilatační kardiomyopatie s nutností resynchronizační terapie. Při průkazu HE v periferní krvi jak u asymptomatických pacientů, tak u pacientů v průběhu léčby nebo po léčbě orgánových komplikací je včasná diferenciální diagnostika a cílená léčba nezbytná.
Objective: Description of a case of extrapulmonary genital tuberculosis of the uterine cervix in a postmenopausal patient. Case report: A 66-year-old patient with a history of metrorrhagia, an ulcerated process in the area of the uterine cervix and vagina, with infiltration of parametria, serosanguinolent discharge and progressive cachectization was admitted to the oncogynecological center of the Hospital of České Budějovice, a. s. As part of the diagnostics, physical examination, colposcopy, targeted biopsy, polymerase chain reaction (PCR) and microbiological examination, oncogynecological ultrasound and CT examination were performed. Clinically, the lesion acted as an advanced tumor. However, no malignant cells were detected in the biopsy and the histopathological finding corresponded to a granulomatous inflammatory condition with giant cell histiocytic elements. Bacterial DNA of Mycobacterium tuberculosis complex was detected by PCR testing. The patient underwent controlled antituberculosis treatment with regular gynecological examinations. Conclusion: Tuberculosis of the uterine cervix occurs rarely. Its clinical manifestation may mimic the tumor process. Diagnosis is based on the identification of the causative agent and treatment consists of long-term controlled administration of antituberculotics, and in rare cases, combination with surgical treatment. Key words: extrapulmonar tuberculosis – genital tuberculosis – uterine cervix – Mycobacterium tuberculosis complex
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