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Year : 2016  |  Volume : 12  |  Issue : 1  |  Page : 422-423

Familial testicular germ cell tumor with bilateral disease

1 Department of Clinical Oncology, Genitourinary Clinic, Regional Cancer Centre, Trivandrum, Kerala, India
2 Department of Pathology, Regional Cancer Centre, Trivandrum, Kerala, India

Date of Web Publication13-Apr-2016

Correspondence Address:
Francis V James
Department of Clinical Oncology, Regional Cancer Centre, Trivandrum - 695 011, Kerala
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0973-1482.172583

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How to cite this article:
James FV, Mathews A. Familial testicular germ cell tumor with bilateral disease. J Can Res Ther 2016;12:422-3

How to cite this URL:
James FV, Mathews A. Familial testicular germ cell tumor with bilateral disease. J Can Res Ther [serial online] 2016 [cited 2021 Jan 20];12:422-3. Available from: https://www.cancerjournal.net/text.asp?2016/12/1/422/172583


Testicular germ cell tumors (TGCT) are less common in India compared to the Western population with an incidence of 0.6/1,000,000. Familial TGCT is rare. Testicular tumors in a sibling as well as bilateral tumors have been reported from India earlier.[1],[2] Bilateral tumor with a family history of TGCT has not been reported so far from India.

A 32-year-old gentleman presented with soft tissue swelling of the left thigh in 2004 after a biopsy, which was showing metastatic yolk sac tumor. Evaluation revealed right testicular tumor and extensive lung metastasis. He received four cycles of bleomycin, etoposide, and cisplatin chemotherapy followed by right inguinal orchidectomy. There was no viable neoplasm in the testis and is in remission since then.

His brother born in 1978 had inguinal orchidectomy for malignant germ cell tumor of the right testicle in 2001. Histopathology showed mixed germ cell tumor with mature teratoma and endodermal sinus tumor components. His alpha-fetoprotein (AFP) was raised at 64 IU/ml, and beta-human chorionic gonadotropin (beta-hCG) was normal. He had received four cycles of etoposide, ifosfamide, and cisplatin at a local hospital. Normal ultrasound appearance of the contralateral testicle was reported then.

In 2010, this gentleman presented with left testicular mass with normal serum markers (AFP and beta-hCG). Ultrasound showed mass in upper pole of left testis. He underwent left partial orchidectomy on 27/09/2010. A 2 cm hard nodule was seen in the upper pole of left testis. Histological examination revealed seminoma. Abdominal computed tomography scan and radiological examination of chest were normal. Hence, he had stage one disease and options of surveillance, adjuvant single-agent carboplatin, and prophylactic radiotherapy were given. He received radiotherapy to paraaortic area, 20 Gray in 10 fractions in 2 weeks. He is well without signs of recurrence during the last follow-up and has retained erectile function.

Family history is one of the strongest and the most consistent of the risk factors for TGCT. Familial TGCT occurs in 1–2% of all cases of germ cell tumor. Brothers and fathers of testicular tumor patients have an 8–10- and 4–6-fold increased the risk of TGCT, respectively. An even higher elevated risk in twin brothers of men with TGCT has been observed, suggesting that genetic elements play an important role in these tumors. Nevertheless, previous linkage studies with multiple families did not uncover any high-penetrance genes, and it has been concluded that the combined effects of multiple common alleles, each conferring a modest risk, might underlie familial germ cell tumors.[3] Bilateral disease is found to be 9.8% in familial TGCT compared to 2.8% in sporadic cases.[4]

By doing a partial orchidectomy in selected cases, lifelong supplement of androgen can be avoided in patients with single remaining testis.[5]

Hence, self-examination of testis may be recommended for brothers of TGCT patients and for the affected patient to detect early lesion in the contra lateral side.

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Conflicts of interest

There are no conflicts of interest.

 > References Top

Gupta MK, Seam RK, Gurung DS, Kanika S. Familial testicular tumour in two brothers: A case report. Indian J Cancer 2005;42:208-10.  Back to cited text no. 1
[PUBMED]  Medknow Journal  
James FV, Kumar A, Jayaprakash PG, Mathews A. Metachronous bilateral testicular germ cell tumors: Report of two cases. J Cancer Res Ther 2009;5:206-7.  Back to cited text no. 2
Kratz CP, Mai PL, Greene MH. Familial testicular germ cell tumours. Best Pract Res Clin Endocrinol Metab 2010;24:503-13.  Back to cited text no. 3
Heimdal K, Olsson H, Tretli S, Flodgren P, Børresen AL, Fossa SD. Familial testicular cancer in Norway and southern Sweden. Br J Cancer 1996;73:964-9.  Back to cited text no. 4
Zuniga A, Lawrentschuk N, Jewett MA. Organ-sparing approaches for testicular masses. Nat Rev Urol 2010;7:454-64.  Back to cited text no. 5


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