The chromosome Y-linked testis-specific protein locus TSPY1 is characteristically present in gonadoblastoma

Human Pathology
Johann D HertelJohn D Pfeifer

Abstract

Gonadoblastoma is a rare gonadal neoplasm that occurs almost exclusively in individuals who are phenotypically females. Most cases develop in women who have an abnormal karyotype in which at least a portion of the centromeric region of the short arm of chromosome Y is present, a region often referred to as the GBY locus. Of the several genes present in the GBY locus, the TSPY1 gene (which encodes testis-specific protein, a protein thought to have a role in cell cycle regulation) appears to be the most likely to have a critical role in the pathogenesis of gonadoblastoma. To evaluate the association of TSPY1 with the tumor, we developed an interphase fluorescent in situ hybridization assay that uses probes that target the region of the GBY locus that contains TSPY1 and a commercially available chromosome X CEP probe. Using this set of probes in a dual-color approach, we evaluated 6 cases of gonadoblastoma identified from our files and found that both TSPY1 and chromosome X were present in 5 (84%) of 6 cases; in these 5 cases, the adjacent nonneoplastic gonadal parenchyma showed the same genotype as the tumor. Of 6 cases, 1 (16%) showed no evidence of TSPY1; in this case, which occurred in a gravida 2 para 2 woman, 2 X chromosomes...Continue Reading

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Citations

Jun 21, 2011·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Rebecca Buell-GutbrodKatja Gwin
Mar 1, 2014·Archives of Pathology & Laboratory Medicine·Francisco F NogalesOvidiu Preda
Dec 16, 2011·Endocrinología y nutrición : órgano de la Sociedad Española de Endocrinología y Nutrición·Yolanda García BenítezM Concepción Alonso-Cerezo
May 26, 2012·American Journal of Medical Genetics. Part a·Mona MekkawyInas Mazen
Sep 4, 2015·Genome Biology·Christelle Robert, Mick Watson
Sep 15, 2016·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Manuel NistalMiguel Reyes-Múgica
Aug 12, 2017·International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists·Jeanna M McCuaigRaymond H Kim
Apr 17, 2021·Pathology, Research and Practice·Lawrence M RothLiang Cheng

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