ABSTRACT
BACKGROUND: Pagetoid urothelial intraepithelial neoplasia (PUIN) is a form of secondary Extramammary Paget Disease (EMPD). It is a rare malignant condition seen on the female genitalia synchronous or metachronous with bladder cancer (BC). CASE PRESENTATION: A 66-year-old female presented with PUIN at the labia minora 2 years after an open anterior pelvic exenteration with ileal conduit urinary diversion for carcinoma in situ (CIS) of the bladder. PUIN of the vulva and vagina was confirmed by a punch biopsy and the patient underwent a radical vaginectomy with urethrectomy and inguinal sentinel node procedure. Immunohistochemically EMPD was identified by the expression tumor protein 63 (p63), cytokeratin 7, and cytokeratin 20 (CK20). CONCLUSIONS: PUIN is a rare but distinct clinical entity as a form of secondary EMPD which can be differentiated from primary EMPD based on medical history, histology, and immunohistochemistry.
Subject(s)
Carcinoma in Situ , Carcinoma, Squamous Cell , Paget Disease, Extramammary , Urinary Bladder Neoplasms , Vulvar Neoplasms , Humans , Female , Aged , Biomarkers, Tumor , Vulvar Neoplasms/diagnosis , Vulvar Neoplasms/surgery , Vulvar Neoplasms/metabolism , Carcinoma in Situ/surgery , Carcinoma in Situ/metabolism , Carcinoma in Situ/pathology , Urinary Bladder Neoplasms/surgery , Urinary Bladder Neoplasms/pathology , Carcinoma, Squamous Cell/pathology , Paget Disease, Extramammary/diagnosis , Paget Disease, Extramammary/surgeryABSTRACT
INTRODUCTION: Ovarian clear cell carcinoma (OCCC) is a less common subtype accounting for approximately 5% of all epithelial ovarian cancers (EOCs). Clinical experience and research findings confirm the remarkable differences in clinical behavior, molecular alterations and pathogenesis of OCCC. The diagnosis of OCCC is typically set at a younger age, and earlier stage and in a background of endometriosis. RESULTS: Molecularly, OCCCs rarely harbor BRCA1/BRCA2 mutations and have fewer copy number variants (CNVs). The most common molecular changes occur in the SWI/SNF chromatin remodeling complex genes, the PI3K/AKT signaling pathway and the receptor tyrosine kinase (RTK)/Ras signaling pathway.Five-year disease-specific survival of patients with OCCC is worse compared to high grade serous carcinomas (HGSOC). The current treatment options for OCCC are based on studies that included patients with predominantly HGSOC and only a minor proportion of cancers with clear cell histology. In order to improve outcomes for patients with OCCC, research should be specific for this subtype. DISCUSSION: As the available information about the specific characteristics of OCCC is increasing, especially at a molecular level, it should be possible to continuously improve the specific diagnostics and treatment. Since OCCC is so rare, it is essential to collect new evidence at an international level. To avoid extrapolation from EOC trials with possible erroneous conclusions, patients should always be encouraged to participate in specific histological trials and basket trials, while paying extra attention to OCCC-like subtypes.