However, this gene maps outside the amplified region found in some seminomas and nonseminomas. In conclusion, the role of activation of proto-oncogenes in the genesis of seminomas and nonseminomas is not illucidated so far. Tumor suppressor genes Studies of loss of heterozygosity LOH , a hallmark of the involvement of tumor suppressor genes, have given rather inconsistent results in seminomas and nonseminomas, which might be related to their aneuploidy.
Several studies have been performed on chromosomes 1, 5, 11, 12 and Recurrent loss has been observed on 1p, in particular bands p13, p22, p Several regions on chromosome 5 show LOH, including p Chromosome 12 contains two regions of interest, i. In spite of the identification of homozygous deletions at 12q22, no candidate genes have been identified so far. Homozygous deletions have also been identified on the long arm of chromosome Although DCC deleted in colorectal cancer might be a candidate, it has been indicated that loss of this gene is likely progression-related.
More recently, inactivating mutations of SMAD4, also mapped to 18q, have been reported in a limited number of seminomas. LOH analysis on microdissected tumor cells of different histologies, including CIS, revealed recurrent LOH at 3qq28, 5q31, 5qq35, 9pp22 and 12q These anomalies were also found in the adjacent CIS cells. Interestingly, loss of 3qq28 was only but consistently detected in the embryonal carcinoma components. In summary, although interesting observations have been made, no convincing data based on studies on LOH, mutations and expression so far, indicate a significant involvement of one of the studied tumor suppressor genes in the development of testicular seminomas and nonseminomas.
Moreover, no candidate genes have been identified for the teratomas and yolk sac tumors of the infantile testis, as well as for spermatocytic seminomas. Representative example of: actual G-banding and schematic of a normal chromosome 12 left within panel and an isochromosome 12p i 12p right within panel ; the fluorescent in situ hybridization pattern with a probe specific for the centromeric region of chromosome 12 red and the p-arm green. Note the presence of three normal chromosomes 12 paired green and red signal , and two isochromosomes one red and two green signals Leendert H.
Reza Hafez, Eric B. Cytogenetics Molecular The isochromosome 12p can be identified on interphase nuclei by fluorescent in situ hybridization, using simultaneously a probe specific for the centromeric region and the short am of chromosome The use of the centromeric probe only was not found to be informative.
Genes involved and Proteins Note In spite of several suggestions about a possible role of a number of genes in the development of teratomas and yolk sac tumours of the infantile testis, the seminomas and nonseminomas and the spermatocytic seminomas, actual prove for their involvement is missing so far. To be noted Gain of 12p is restricted to invasive seminomas and nonseminomas, and is not found in CIS. Therefore additional copies of the gene s on 12p is not involved in the early development of this cancer.
Bibliography Candidate regions for testicular cancer susceptibility genes. Journal international du cancer. A clinicopathologic study of 79 cases. The cytogenetic theory of the pathogenesis of human adult male germ cell tumors. Review article.
Testicular cancer in blacks. A multicenter experience. Pathogenetic and clinical relevance. Pugh RCB In.. Carcinoma in situ in the testis. Cytogenetics and genes in testicular tumors. Skakkebaek NE Lancet. Activating c-kit gene mutations in human germ cell tumors. Histogenetic and clinical implications. Testis: Germ cell tumors. Atlas Genet Cytogenet Oncol Haematol. Box , DR Rotterdam, Dr. Germ cell tumours comprise a heterogeneous group of neoplasms, which can be found at different, although restricted anatomical locations. Designation of tumours to these groups is clinically relevant because they require different strategies for treatment.
Testicular germ cell tumours, teratomas and yolk sac tumours, seminomas and nonseminomas, carcinoma in situ CIS , intratubular germ cell neoplasia undifferentiated IGCNU , testicular intratubular neoplasia TIN , spermatocytic seminomas. That the different types of germ cell tumours of the testis are derived from cells belonging to the germ cell lineage, is established, although the actual non-malignant counterparts are still a matter of debate.
During the first few years of life, the only types of germ cell tumours diagnosed in the testis are teratomas and yolk sac tumours. CIS cells show similarities to embryonic germ cells, like their positivity for alkaline phosphatase, the stem cell factor receptor c-KIT , and their glycogen content. In spite of the fact that it is generally accepted that CIS is the precursor for seminoma and nonseminoma, the relationship s between these histological elements is still a matter of debate.
The teratomas of infants, and the spermatocytic seminomas are generally benign. The three groups of germ cell tumours of the testis show characteristic chromosomal anomalies, which favor the model of separate pathogeneses.ataprabno.tk
Testicular Cancer (The Biology of Cancer)
The isochromosome 12p can be identified on interphase nuclei by fluorescent in situ hybridization, using simultaneously a probe specific for the centromeric region and the short am of chromosome Genes involved and Proteins. In spite of several suggestions about a possible role of a number of genes in the development of teratomas and yolk sac tumours of the infantile testis, the seminomas and nonseminomas and the spermatocytic seminomas, actual prove for their involvement is missing so far.
Gain of 12p is restricted to invasive seminomas and nonseminomas, and is not found in CIS. Candidate regions for testicular cancer susceptibility genes. PMID Comparative analysis of cell surface antigens expressed by cell lines derived from human germ cell tumours. Treatment of patients with cisplatin-refractory testicular germ-cell cancer. Prevalence of contralateral testicular intraepithelial neoplasia in patients with testicular germ cell neoplasms.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
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Allelic losses in carcinoma in situ and testicular germ cell tumours of adolescents and adults: evidence suggestive of the linear progression model. Chromosome 12q heterozygosity is retained in i 12p -positive testicular germ cell tumor cells.
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Prevalence of carcinoma in situ and other histopathological abnormalities in testes from men who died suddenly and unexpectedly. Early stage and advanced seminoma: role of radiation therapy, surgery, and chemotherapy.
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Anti-androgen induced inhibition of testicular descent is associated with a decrease in sympathetic tonus. Eur J Pediatr Surg. The effect of flutamide on expression of androgen and estrogen receptors in the gubernaculum and surrounding structures during testicular descent.
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J Pediatr Surg. Genetic alterations associated with cryptorchidism. Absence of mutations involving the INSL3 gene in human idiopathic cryptorchidism. Genetic analysis of the human insulin-like 3 gene: absence of mutations in a Greek paediatric cohort with testicular maldescent. Androgen receptor gene alterations are not associated with isolated cryptorchidism. Association of long polyglycine tracts GGN repeats in exon 1 of the androgen receptor gene with cryptorchidism and penile hypospadias in Iranian patients.
J Androl. Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnoses.
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J Clin Endocrinol Metab. Testicular parenchymal abnormalities in Klinefelter syndrome: a question of cancer? Examination of 40 consecutive patients. Asian J Androl.
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