Cytogenetic Findings of an Undifferentiated Testicular Sarcoma

Eiji Matsubara, Yamochi Toshiko, Christopher A. Lum, Ricky Kaneshiro, Yuuki Matsumoto, Yuuichirou Ogawa, Katsuyuki Saitou, Katsuki Inoue, Thomas Namiki, Hidekazu Ota, Masafumi Takimoto, Makoto Shimada


Primary testicular sarcomas are extremely rare. In contrast, germ cell tumors (GCTs) with sarcomatous components (SCs) that can have similar pathologic features are more frequently reported. We report a primary undifferentiated testicular sarcoma with cytogenetic analysis for amplification of 12p. A 36-year-old male initially presented with 9.4 cm right testicular tumor and no metastatic disease. He was lost to follow-up but re-presented 2 years later with tumor growth to 21 cm and multiple pulmonary and bone metastases. Histologically, the testicular tumor revealed an undifferentiated sarcoma. Fluorescence in situ hybridization (FISH) of paraffin-embedded tissue showed no amplification of 12p. Gain of isochromosome 12p (i(12p)) is a specific chromosomal anomaly present in most GCTs. The cytogenetic analysis indicated the possibility that the tumor was not of GCT origin. This is the first report of primary testicular undifferentiated sarcoma with cytogenetic analysis for i(12p).

J Med Cases. 2016;7(1):7-12


Testicular; Intratesticular; Sarcoma; Fluorescence in situ hybridization; FISH isochromosome; 12p; Cytogenetic

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