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

Hertel, Johann; Huettner, Phyllis C.; Dehner, Louis P.; Pfeifer, John D.

doi:10.1016/j.humpath.2010.04.007

Cited by 29 publications

(11 citation statements)

References 27 publications

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“…This result was consistent with the previous study which indicated that TSPY formed higher numbers of colonies in vitro and enhanced tumor growth in vivo [28]. Lauren demonstrated that TSPY1 presented in most gonadoblastomas using interphase fluorescent in situ hybridization assay [20]. All of our data taken together supported the notion that TSPY1 was a growth-promoting gene and provided a new insight of abundant TSPY1 expression in male HCC tissues.…”

Section: Discussionsupporting

confidence: 92%

“…TSPY1 was chosen for further study since (1) TSPY1was only found in male HCC group with a significant difference. (2) It was considered as a candidate oncogene for gonadoblastoma [20] and (3) the exact mechanisms of its postulated oncogenic are still unclear. TSPY1 is a member of the TSPY superfamily which located on the pericentromeric region of the short arm on the Y chromosome [21].…”

Section: Discussionmentioning

confidence: 99%

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Over-Expressed Testis-Specific Protein Y-Encoded 1 as a Novel Biomarker for Male Hepatocellular Carcinoma

Huang

et al. 2014

PLoS ONE

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Hepatocellular carcinoma (HCC) is a male-predominant cancer. Previous studies have focused on the sex-related disparity in HCC, but the underlying mechanism remains unclear. Here, we aimed to discover characteristic biomarkers for male HCC. Clinical samples were subjected to iTRAQ labeling followed by 2DLC-ESI-MS/MS analysis. Seventy-three differential proteins containing 16 up-regulated and 57 down-regulated proteins were screened out in the male HCC group compared to that in female HCC group. Testis-specific Protein Y-encoded 1(TSPY1) is characteristically present in male HCC and was chosen for further investigation. The data from the functional effects of TSPY1 indicated that over-expression of TSPY1 could potentiate HCC cell proliferation, increase soft agar colonization, induce higher cell invasive ability and correlate with the metastatic potential of the HCC cell lines. In addition, TSPY1 and androgen receptor (AR) were co-expressed simultaneously in HCC cell lines as well as in HCC tissue. TSPY1 up- or down-regulation could lead to a high or low level expression of AR. These results implied that TSPY1 may be included in the regulation of AR expression involved in male HCC and it may act as a novel biomarker for male HCC.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Over-Expressed Testis-Specific Protein Y-Encoded 1 as a Novel Biomarker for Male Hepatocellular Carcinoma

Huang

et al. 2014

PLoS ONE

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“…10 The GBY locus, a portion of the centromeric region of the short arm of chromosome Y, contains the testis-specific protein 1 gene (TSPY1), which seems to play a critical role in the pathogenesis of gonadoblastoma. 11 Historically, this fact was exemplified in 1930 when Robert Meyer coined the term dysgerminoma as the characteristic tumor of the dysgenetic gonad. 12 Moreover, the recent recognition of neoplasms with a germ cell phenotype, but derived from normal and somatic tissue tumors, has provided yet another origin for rare, usually malignant, teratoid tumors, which may arise from a pluripotent malignant stem cell population of somatic neoplasms.…”

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confidence: 99%

Germ Cell Tumors of the Ovary: An Update

Nogales

Dulcey

Preda

2014

Archives of Pathology &Amp; Laboratory Medicine

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Context.—The field of ovarian germ cell tumors (OGCTs) has remained relatively unchanged in the last 2 decades. However, the introduction of new stem cell pluripotency markers has provided a new understanding into the identification and taxonomy of OGCT types. New data have provided new insights into unusual teratoma-associated autoimmune disorders and the origin of gliomatosis peritonei. Objective.—To review the impact of new pluripotency markers in the diagnosis of malignant OGCT (MOGCT) and analyze new nomenclature proposals and clinicopathologic entities. Data Sources.—Ovarian germ cell tumors from routine material and expert consultation files at San Cecilio University Hospital, Granada, Spain, and the relevant literature were reviewed. Conclusions.—Although a correct diagnosis of MOGCT can often be made with histologic and classic immunohistochemical studies, the new immunohistochemical pluripotency markers give higher diagnostic accuracy. Germ cell tumors represent a caricature of the phases of normal embryonic differentiation from primordial germ and stem cells to extraembryonal and somatic tissue differentiation. Since every stage of differentiation and its related tumor type exhibit characteristic markers, the analysis of their expression facilitates tumor typing, thus complementing the use of classic antibodies. They also allow a more precise evaluation of the degree of immaturity in teratoma. The new term, primitive endodermal tumors, simplifies the understanding of the complex histology of the yolk sac tumor group, as this terminology encompasses its multiple endodermal differentiations. Recently described autoimmune encephalitis due to antibodies against the N-methyl-d-aspartate receptor has become the most frequent autoimmune disorder associated with ovarian teratoma.

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“…Although SRY is important for other aspects of sexual differentiation, the SRY region of the Y chromosome has been found lacking in many patients with gonadoblastoma [19]. More recent literature suggests that FISH studies on patients with Turner syndrome should include probes that specifically target the SRY, TSPY, and DYZ3 gene regions to more adequately assess for the presence of cryptic Y chromosome material [7] [8] [9] [20]. In the present case, since the microarray analysis revealed that all regions of the Y chromosome were present in the dup(Y)(q11.21q11.23) cell line, the SRY probe was used as a marker for the presence of the aberrant Y chromosome.…”

Section: Discussionmentioning

confidence: 99%

“…Chromosomal SNP microarray analysis was also performed with 2,696,550 probe targets and revealed arr[7] (X)x1,Yp11.31p11.2(2,650,141–10,073,965)x1[8],Yq11.21q11.23 (13,800,734–28,799,937)x2[9] (Figure 2a). This was interpreted together with the karyotype results as an estimated 14% mosaic loss of the Y chromosome, with Y chromosomal material present in 86% of the cells, with a duplication of the entire long arm euchromatic region from positions 13,800,734–28,799,937.This genetic constitution is equivalent to the 45,X/46,X,dup(Y)(q11.21q11.23) karyotype reported by standard G-band analysis.…”

Section: Case Presentationmentioning

confidence: 99%

Prevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk

et al. 2017

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Although monosomy X is the most common karyotype in patients with Turner syndrome, the presence of Y chromosome material has been observed in about 10% of patients. Y chromosome material in patients with Turner syndrome poses an increased risk of gonadoblastoma and malignant transformation. We report a woman with a diagnosis of Turner syndrome at 12 years of age, without signs of virilization, and karyotype reported as 46,X,del(X)(q13). At 26 years, cytogenetic studies indicated the patient to be mosaic for monosomy X and a cell line that contained a duplicated Yq chromosome. Bilateral gonadectomy was performed and revealed streak gonads, without evidence of gonadoblastoma. Histological analysis showed ovarian stromal cells with few primordial tubal structures. FISH performed on streak gonadal tissue showed a heterogeneous distribution of SRY, with exclusive localization to the primordial tubal structures. DNA extraction from the gonadal tissue showed a 6.5% prevalence of SRY by microarray analysis, contrasting the 86% prevalence in the peripheral blood sample. This indicates that the overall gonadal sex appears to be determined by the majority gonosome complement in gonadal tissue in cases of sex chromosome mosaicism. This case also raises questions regarding malignancy risk associated with Y prevalence and tubal structures in gonadal tissue.

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

Cited by 29 publications

References 27 publications

Over-Expressed Testis-Specific Protein Y-Encoded 1 as a Novel Biomarker for Male Hepatocellular Carcinoma

Over-Expressed Testis-Specific Protein Y-Encoded 1 as a Novel Biomarker for Male Hepatocellular Carcinoma

Germ Cell Tumors of the Ovary: An Update

Prevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk

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