Dedifferentiated Liposarcoma With Rhabdomyosarcomatous Differentiation Producing HCG: A Case Report of a Diagnostic Pitfall

Abstract

We report a first case of paraneoplastic human chorionic gonadotropin (HCG) production in a dedifferentiated liposarcoma with rhabdosarcomatous differentiation in an 83-year-old man with a retroperitoneal mass, unilateral scrotal enlargement, and a serum HCG level of 843 IU/L. Core biopsy of the retroperitoneal mass revealed rhabdomyosarcoma. Orchiectomy revealed a paratesticular dedifferentiated liposarcoma with rhabdosarcomatous differentiation. Fluorescence in situ hybridization analysis performed on both the retroperitoneal and paratesticular masses revealed amplification of MDM2. The retroperitoneal tumor was interpreted as metastatic dedifferentiated liposarcoma with the dedifferentiated component represented by rhabdomyosarcoma. HCG production is a common feature of testicular germ cell tumors, less common in carcinomas, and extremely rare in sarcomas. Accordingly, sarcomas secreting HCG are a potential diagnostic pitfall, and raise the differential diagnosis of germ cell tumors and a variety of carcinomas. HCG production by carcinomas is a known poor prognostic finding, however the significance of its production in sarcomas is unknown.

Elevated beta human chorionic gonadotropin in a non-pregnant female diagnosed with anal squamous cell carcinoma

“…There have been case reports in a variety of malignancies of patients presenting with an elevated serum β-hCG. This has been documented in cancers including breast, 11 cervical, 12,13 gallbladder, 14,15 gastric, 16 head and neck, 17 lung, 18–21 ovarian, 22,23 renal cell, 24 sarcoma 25–28 and urothelial, 29 and in both male and female patients. In our case, the elevated level of β-hCG is probably attributable to ectopic excretion by the SCC tumour in the anus.…”

"Unusual Manifestation of Ectopic Human Chorionic Gonadotropin-Producing Cancers"

“…Bladder urothelial carcinoma [11][12][13] Breast malignant phyllodes tumor [14] Cervix squamous cell carcinoma [15] Gallbladder adenocarcinoma [16,17] Head and neck squamous cell carcinoma [18,19] Kidney renal cell carcinoma [20] Lung non-small-cell adenocarcinoma [21][22][23][24][25] Ovary mucinous adenocarcinoma [26,25] Stomach gastric adenocarcinoma [27,28] Sarcomas leiomyosarcoma, liposarcoma, rhabdomyosarcoma [29][30][31][32]…”

“…Pituitary hCG is naturally produced at extremely low levels in woman of reproductive age population. In peri-or postmenopausal state, levels of pituitary hCG increase because of the absence of feedback control by circulating estrogen and progesterone [2,[25][26][27][28][29][30][31][32]. Elevated ß-hCG level due to various cancers produce excessive amounts of estradiol by peripheral aromatase activation, which can manifest as gynecomastia in males or vaginal spotting in females.…”

Paratesticular Dedifferentiated Liposarcoma with Epithelioid Features: A Diagnostic Pitfall

“…1,2 Furthermore, the morphological spectrum of DDLPS can vary, and heterologous elements including myogenic, osteogenic/chondrosarcomatous, and rhabdomyoblastic are not uncommon, especially in the retroperitoneum. [3][4][5][6][6][7][8][9][10][11] Epithelioid features, including paraganglioma-like morphology, are rare though, identified in less than 5% of DDLPS. 4,12 Herein, we present the first case of molecularly confirmed paratesticular dedifferentiated liposarcoma with striking epithelioid differentiation and paragangliomalike morphology.…”