Available online 12 October 2022
AbstractBackgroundSmall cell carcinoma of the ovary, hypercalcemic type (SCCOHT), is a rare neoplasm that occurs mostly in women younger than 40 years of age. The unknown histogenesis makes the diagnosis of SCCOHT difficult. SCCOHT was recently shown to be associated with SMARCA4 gene mutation. Serum calcium levels can be used as a marker of treatment response and relapse in SCCOHTs.
Case reportHere we report a 16 years old girl who presented with pelvic mass and hypercalcemia. Histopathologically SCCOHT was diagnosed. However, loss of neither BRG1 nor INI1 expression was detected.
Summary and ConclusionThe diagnosis of SCCOHT should be among the differential diagnoses in adolescents presenting with pelvic mass and hypercalcemia. We would like to share our experience with this rare case, discuss recent management and emphasize the importance of a multidisciplinary approach. Although it is known that almost all cases have a loss of BRG1 expression and a small group exhibit loss of INI1, our patient suggests that there should be exceptional cases with hitherto undescribed genetic abnormalities.
Key WordsSmall cell carcinoma of ovary
hypercalcemia in malignancy
ovarian neoplasm
biomarkers
View full text© 2022 Published by Elsevier Inc. on behalf of North American Society for Pediatric and Adolescent Gynecology.
留言 (0)