Bilateral testicular tumour in neurofibromatosis type 1

Abstract

Stephen J Harland, in his Oct 28 commentary,1Harland SJ Conundrum of the hereditary component of testicular cancer.Lancet. 2000; 356: 1455-1456Summary Full Text Full Text PDF PubMed Scopus (13) Google Scholar reviews the genetic features of the pathogenesis of testicular tumours. He emphasises the importance of analysis of the bilateral testicular tumour.Historically, several tumour-related genes have been found by analysis of hereditary neoplastic syndromes that frequently cause bilateral or multiple cancers in several organs. However, in assessment of the bilateral testicular tumour in cases with a neoplastic syndrome, we should be careful, since hitherto no neoplastic syndrome has been frequently associated with testicular cancer. We report a case of bilateral testicular cancer associated with neurofibromatosis type 1 (NF1). A few cases with unilateral disease have been reported.2Hilton DA Muller S Macpherson DS Testicular teratoma and peripheral neurofibromatosis.Postgrad Med J. 1990; 66: 974-975Crossref PubMed Scopus (5) Google ScholarThe patient was a man aged 25 years who had known NF1 with multiple neurofibromas and with several café au lait spots. He had no family history of testicular cancer and had no history of undescended testis. At age 15 years, right orchiectomy was done for the right testicular tumour, which was shown histologically to be an embryonal carcinoma without seminomatous component (figure). In the 10 intervening years, he had been well until he noticed swelling of his left testis. A left orchiectomy was done and histological assessment showed pure seminoma (figure).Loss of heterozygosity was not seen through analysis of the microsatellite marker located in intron 26 of the NF1 gene (figure),3Andersen LB Tarlé SA Mar chuk DA et al.A compound nucleotide repeat in the neurofibriomatosis (NF1) gene.Hum Mol Genet. 2000; 2: 1083Crossref Scopus (17) Google Scholar which suggests this gene might not have a principal role in the pathogenesis.Our results, along with the histological difference between the two tumours, are consistent with the existence of only a few reported cases of NF1 with testicular cancer, including unilateral and bilateral disease. The pathogeensis of these tumours remains a conundrum. Stephen J Harland, in his Oct 28 commentary,1Harland SJ Conundrum of the hereditary component of testicular cancer.Lancet. 2000; 356: 1455-1456Summary Full Text Full Text PDF PubMed Scopus (13) Google Scholar reviews the genetic features of the pathogenesis of testicular tumours. He emphasises the importance of analysis of the bilateral testicular tumour. Historically, several tumour-related genes have been found by analysis of hereditary neoplastic syndromes that frequently cause bilateral or multiple cancers in several organs. However, in assessment of the bilateral testicular tumour in cases with a neoplastic syndrome, we should be careful, since hitherto no neoplastic syndrome has been frequently associated with testicular cancer. We report a case of bilateral testicular cancer associated with neurofibromatosis type 1 (NF1). A few cases with unilateral disease have been reported.2Hilton DA Muller S Macpherson DS Testicular teratoma and peripheral neurofibromatosis.Postgrad Med J. 1990; 66: 974-975Crossref PubMed Scopus (5) Google Scholar The patient was a man aged 25 years who had known NF1 with multiple neurofibromas and with several café au lait spots. He had no family history of testicular cancer and had no history of undescended testis. At age 15 years, right orchiectomy was done for the right testicular tumour, which was shown histologically to be an embryonal carcinoma without seminomatous component (figure). In the 10 intervening years, he had been well until he noticed swelling of his left testis. A left orchiectomy was done and histological assessment showed pure seminoma (figure). Loss of heterozygosity was not seen through analysis of the microsatellite marker located in intron 26 of the NF1 gene (figure),3Andersen LB Tarlé SA Mar chuk DA et al.A compound nucleotide repeat in the neurofibriomatosis (NF1) gene.Hum Mol Genet. 2000; 2: 1083Crossref Scopus (17) Google Scholar which suggests this gene might not have a principal role in the pathogenesis. Our results, along with the histological difference between the two tumours, are consistent with the existence of only a few reported cases of NF1 with testicular cancer, including unilateral and bilateral disease. The pathogeensis of these tumours remains a conundrum.