Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Pathology
Volume 2017, Article ID 9403467, 5 pages
https://doi.org/10.1155/2017/9403467
Case Report

SMARCA4-Deficient Carcinoma of Unknown Primary Presenting with Fatal Paraneoplastic Hypercalcemia in a Heart Transplant Recipient: First Report in a Male Patient

1Institute of Pathology, Friedrich-Alexander-University Erlangen-Nuremberg, University Hospital of Erlangen, 91054 Erlangen, Germany
2Department of Internal Medicine-1, Friedrich-Alexander-University Erlangen-Nuremberg, University Hospital of Erlangen, 91054 Erlangen, Germany
3Department of Cardiac Surgery, Friedrich-Alexander-University Erlangen-Nuremberg, University Hospital of Erlangen, 91054 Erlangen, Germany

Correspondence should be addressed to Abbas Agaimy; ed.negnalre-ku@ymiaga.sabba

Received 5 July 2017; Accepted 27 August 2017; Published 11 October 2017

Academic Editor: Adriana Handra-Luca

Copyright © 2017 Abbas Agaimy et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), is a rare SMARCA4-driven aggressive malignancy of young age characteristically associated with paraneoplastic hypercalcemia. Comparable neoplasms/presentations have not been reported in males. A 39-year-old male heart transplant recipient (HTX 40 months previously) presented with multiple liver nodules and hypercalcemic crisis. The serum parathyroid hormone-related protein (PTHrp) was significantly elevated (241 pg/ml; reference value < 57). Liver biopsy showed poorly differentiated partially rhabdoid neoplasm expressing pancytokeratin, CK20, and focally GATA3, SATB2, p63, and SALL4. The tumor cells showed dual loss of SMARCA4 and SMARCA2. He died of irreversible multiorgan failure one week after admission. To our knowledge, this is the first report highlighting the rare occurrence of paraneoplastic hypercalcemia associated with SMARCA4-deficient malignancies in males. Although the immunophenotype suggests urothelial or upper gastrointestinal tract origin, the exact primary tumor site could not be ascertained due to rapid death of the patient. SMARCA4 immunohistochemistry should be included in the workup of neoplasms associated with hypercalcemia irrespective of gender and site.