Cytogenetic Findings of an Undifferentiated Testicular Sarcoma
Eiji MatsubaraToshiko YamochiChristopher LumRicky KaneshiroYuuki MatsumotoYuuichirou OgawaKatsuyuki SaitouKatsuki InoueThomas NamikiHidekazu OtaMasafumi TakimotoMakoto Shimada
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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 doi: http://dx.doi.org/10.14740/jmc2356wKeywords:
Isochromosome
Testicular tumor
Twenty-nine tumor specimens were obtained from 24 males with germ cell tumors. All primary sites and histologies were represented. An isochromosome of the short arm of chromosome 12 [i (12p)] was found in 20 specimens obtained from 16 patients, a 46,XY normal karyotype was present in seven specimens, and one specimen was a cytogenetic failure. The i(12p) was found in tumors from all primary sites and in all histologies, including a choriocarcinoma. The presence of three or more additional copies of 12p was associated with a statistically significant greater likelihood of treatment failure. With diagnostic and possibly prognostic importance in germ cell tumors in males, the high frequency of i(12p) in our series of studies and in those of others indicates that it probably occurs as a very early defect in the development of these tumors. Further studies of chromosome 12 in males with these tumors are warranted.
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Bilateral synchronous testicular cancer is a rare occurrence and is usually associated with similar histological findings in each testicle. The standard therapy of bilateral testis cancer is generally considered to be orchiectomy. We present a case of synchronous bilateral testicular germ cell tumor treated with testis-sparing surgery. The patient was disease free for 30 months after surgery without local recurrence or distant metastases. Testis-sparing surgery provides a better quality of life and may be considered a safe, feasible alternative in the treatment of carefully selected patients with bilateral testicular germ cell tumor.
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Testicular tumor
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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 doi: http://dx.doi.org/10.14740/jmc2356w
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Germinoma
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Surgical oncology
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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 doi: http://dx.doi.org/10.14740/jmc2356w
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During the past two decades, a dramatic improvement has been made in the treatment of testicular germ cell tumor. This progress has been dueto finding more efficacious systemic chemotherapeutic agents and the availability of specific and sensitive biologic tumor markers to detect early recurrence and monitor the therapy. In this review, i will update my 15 years of experience in establishing and utilization of these serum and cell markers in testicular cancer.
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PURPOSE The incidence of germ cell testicular tumors (GCTTs) is increasing world wide, and with effective treatment, the majority of patients are being cured. Thus, the clinical and social impact of a second testicular tumor is becoming more important. The frequency, cumulative risk, and relative risk of developing a second testicular cancer in New Zealand have been documented and compared with other reports. PATIENTS AND METHODS The records of 741 men presenting with germ cell testicular cancer in Auckland and Christchurch between 1978 and 1994 have been reviewed, and these data have been compared with data from other published studies. Cumulative risk was assessed by the Kaplan-Meier method. RESULTS Over 2% of the study population developed a second germ cell testicular cancer. The cumulative risk was 5.2% over 15 years. The relative risk of developing a contralateral testicular tumor is 27.5 times higher than age-matched New Zealand peers. These results match the only comparable report in the literature. Five of the 16 bilateral tumors (31%) were synchronous, which is a higher incidence than in any other reported series. There was no concordance of histology in the first and second tumors. Prior exposure to cisplatin combination chemotherapy did not prevent the development of a second tumor. CONCLUSION Men who are cured of a germ cell testicular cancer have a greatly increased risk of developing a second testicular cancer. Such patients should be informed of this risk and ideally kept under long-term surveillance.
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Hypomethylated X Chromosome Gain and Rare Isochromosome 12p in Diverse Intracranial Germ Cell Tumors
Twenty-five primary intracranial germ cell tumors (11 germinomas, 5 teratomas, 5 mixed teratomas-germinomas, 1 mixed choriocarcinoma-teratoma, 1 yolk sac tumor, 1 mixed yolk sac tumor-teratoma, and 1 embryonal carcinoma; from 24 males and 1 female) were studied by fluorescence in situ hybridization with probes to the X and Y chromosomes, chromosome 12p, the CDKN2A/p16 gene, and chromosome 13q—loci previously noted to be altered in either intracranial or systemic germ cell tumors. An increased number of X chromosomes, typically 1 extra copy, was observed in 23 of 25 cases (92%), with methylation-sensitive PCR demonstrating that the additional X chromosomes were hypomethylated in 13 of 16 (81%) studied tumors. Five cases (20%) had increased copy numbers of 12p (including tumors with isochromosome 12p), and 3 (12%) had 13q loss. No tumors had CDKN2A/p16 deletion or mutation, and 16 of 25 (64%) were positive for p16 expression by immunohistochemistry. Genetic alterations such as isochromosome 12p, 13q loss and CDKN2A/p16 are therefore not common in intracranial germ cell tumors. However, gains of hypomethylated, active X chromosomes occur in nearly all intracranial germ cell tumors, regardless of histological subtype. Along with the observed male predominance of intracranial germ cell tumors and the predisposition in Klinefelter syndrome patients for these lesions, the data argue strongly that sex chromosome aberrations, rather than isochromosome 12p, are integral to intracranial germ cell tumorigenesis
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