Cytological Features of the Large Cell Variant of Small Cell Ovarian Carcinoma in Young Patients with Hypercalcemia: Histological Findings and Review of the Literature
Abstract:Objective: To present the cytological features of a very rare and lethal ovarian neoplasm occurring in the young. Study Design: We reviewed the cytological findings as they presented in touch imprints obtained from an ovarian mass sent to our department for frozen section investigation. Results: Smears were highly cellular. The cells were of intermediate size with a moderate amount of microvacuolated, pale, or eosinophilic cytoplasm with indistinct cell borders. The nuclei were of round or oval shape with mild… Show more
“…Only three articles 20–22 we found in the literature described large cell ovarian carcinomas with similar features to the current case, the first one diagnosed on a peritoneal washing like in our case with marked cytologic similarities. However, their immunohistochemical features were different from the case here reported and none had concurrent molecular pathologic study; moreover, hypercalcemia was found only in 1/3 cases.…”
The SMARCA subgroup of genes belongs to the SWI1/SNF1 family, responsible for chromatin remodeling and repair within the nucleosome. The SMARCA4 gene is located on chromosome 19p13 and encodes the BRG1 (BRAhMA) protein. We report the cytological and histological findings in one case of large cell SMARCA4 deficient ovarian carcinoma with positive peritoneal washing in a 69‐year‐old woman. The neoplastic cells were present as singly lying or perivascular clusters and showed medium or large size, round to oval hyperchromatic nuclei, and scarce to moderate cytoplasms. Molecular pathology investigations performed on the ovarian surgical sample found two previously undescribed mutations in the SMARCA4 gene and additional mutations in the CTNNB1 (Beta Catenin gene) and in PIK3CA. To our knowledge, this case probably represents the third cytologic report of this variant of ovarian carcinoma and the first one with molecular pathologic study.
“…Only three articles 20–22 we found in the literature described large cell ovarian carcinomas with similar features to the current case, the first one diagnosed on a peritoneal washing like in our case with marked cytologic similarities. However, their immunohistochemical features were different from the case here reported and none had concurrent molecular pathologic study; moreover, hypercalcemia was found only in 1/3 cases.…”
The SMARCA subgroup of genes belongs to the SWI1/SNF1 family, responsible for chromatin remodeling and repair within the nucleosome. The SMARCA4 gene is located on chromosome 19p13 and encodes the BRG1 (BRAhMA) protein. We report the cytological and histological findings in one case of large cell SMARCA4 deficient ovarian carcinoma with positive peritoneal washing in a 69‐year‐old woman. The neoplastic cells were present as singly lying or perivascular clusters and showed medium or large size, round to oval hyperchromatic nuclei, and scarce to moderate cytoplasms. Molecular pathology investigations performed on the ovarian surgical sample found two previously undescribed mutations in the SMARCA4 gene and additional mutations in the CTNNB1 (Beta Catenin gene) and in PIK3CA. To our knowledge, this case probably represents the third cytologic report of this variant of ovarian carcinoma and the first one with molecular pathologic study.
“…Furthermore, in the present report, cytomorphologic features of SCCOPT metastatic to cervix, on Papanicolaou stained, SurePath preparation have also been highlighted. There are only occasional case reports wherein cytological features of SCCO have been presented, mainly of the hypercalcemic type; [16][17][18][19][20] with only a few diagnosed primarily on exfoliative cytology. 21,22 We believe ours is the first report of a SCCOPT being diagnosed by FNAC, supplemented with ICC on cellblock.…”
Small cell carcinoma of the ovary (SCCO) is an exceedingly rare malignant neoplasm. It has been classified into two types: hypercalcemic and pulmonary type, the former being relatively more common. These are highly aggressive neoplasms with rapid down‐hill course and poor disease‐outcome. A high index of clinical suspicion, systematic radiological evaluation, and an early tissue diagnosis are a must for timely patient management and a better outcome. A definitive diagnosis can be established by demonstration of the characteristic morphologic and immunochemical features. We report a case of SCCO of pulmonary type in a peri‐menopausal female, presenting with a large abdomino‐pelvic mass, which was diagnosed by fine needle aspiration cytology (FNAC), by immunocytochemistry on cell‐block. In addition, cytological features of metastatic SCCO, pulmonary type, in the Papanicolaou stained liquid‐based cytology (SurePath) preparation are also presented. The current report highlights the diagnostic utility of FNAC in the diagnosis of such rare gynecological malignancies.
“…In the peritoneal fluid, SCCOHT presents as loosely cohesive neoplastic cells with large hyperchromatic nuclei with prominent nucleoli [85]. The nuclei may show mild to moderate atypia, with occasional grooving and intranuclear inclusions [86]. The cytoplasm varies from scarce to moderately abundant with dark, granular appearance to brightly eosinophilic with hyaline globule, imparting a rhabdoid morphology [85].…”
Background: Evaluation of peritoneal fluid cytology, either from ascitic fluids or as result of peritoneal washings, is a fundamental aspect in the evaluation of women presenting with clinically concerning or histologically confirmed gynecologic neoplasms.
Summary: Ascitic fluid samples are often the initial and only source of diagnostic material in women presenting with gynecologic malignancies, and important therapeutic decisions will result from the information provided in the cytology report. On the other hand, cytologic evaluation of peritoneal washing specimens obtained during surgical excision of a presumed gynecologic neoplasm provides crucial information to the clinical team regarding tumor staging, often with significant therapeutic implications. While recognition of high-grade tumors in either of these samples is generally straightforward, low-grade tumors and unusual neoplasms can prove to be more difficult to recognize, differentiate from benign mimics, and correctly diagnose, particularly in low-cellularity specimens. Even with high grade tumors, a mere diagnosis of “Positive for malignancy” in diagnostic ascitic fluid specimens might not suffice to guide clinical management, and the use of ancillary techniques to further and more definitively characterize the lesional cells is required.
Key Messages: This review will focus on the clinically relevant issues surrounding interpretation of peritoneal fluid cytology specimens in the setting of gynecologic neoplasms, making emphasis on the salient cytomorphologic and immunocytochemical features of the various neoplastic processes, in an attempt to provide a practical yet effective guide on how to best evaluate, diagnose, and report these samples.
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