Cryptorchidism and Testicular Tumor: Comprehensive Analysis of Common Clinical Features and Search of SNVs in the KIT and AR Genes

Landero-Huerta, Daniel Adrian; Vigueras-Villaseñor, Rosa María; Yokoyama-Rebollar, Emiy; García-Andrade, Fabiola; Rojas-Castañeda, Julio César; Herrera-Montalvo, Luis Alonso; Díaz‐Chávez, José; Perez-Añorve, Isidro X.; Aréchaga-Ocampo, Elena; Chávez-Saldaña, Margarita

doi:10.3389/fcell.2020.00762

Cited by 9 publications

(9 citation statements)

References 31 publications

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“…The clinical stage of both patients was T3a, and the age of diagnosis was 55 and 62. This variant was previously detected in the group with testicular cancer, but no significant difference was found compared to the control group [ 11 ]. It was known that the variants in the AR gene which plays a role in the development of prostate tissue were associated with an increased risk of PCa [ 12 ].…”

Section: Discussionmentioning

confidence: 89%

Germline variant screening with targeted next generation sequencing in prostate cancer: phenotype-genotype correlation

2021

Turk J Med Sci

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Background/aim Next generation sequencing provides new information about the molecular pathogenesis of cancer. We used a targeted NGS-based multiple gene panel comprising prostate cancer (PCa) predisposing genes to assess the prevalence of germline mutations in PCa patients. Material and methods In a cohort of twenty-one PCa patients with a family history of cancer, a targeted multigene panel consisting of 39 genes associated with hereditary cancer was created and analyzed using the next generation sequencing method. The novel and pathogenic mutations detected were confirmed by Sanger sequencing method. Thereafter, the data obtained were evaluated using different genomic variant classifiers and databases. Results With an incidence of less than 5% in different populations (MAF<0.05); a total of 81 variants were identified, including 41 missense, 16 synonymous, 3 splice-site, 11 intronic, 5 in-del and 5 novels. According to the ACMG criteria, 5 (6.2%) of these variants are pathogenic/likely pathogenic; 5 (6.2%) of them were classified as novel variants. In addition, variants having very low-frequency and unknown clinical significance (VUS) in the databases were detected. Conclusion The findings we obtained from this study contributed to the understanding the genetic pathogenesis of PCa, determining the frequency of mutations in the population, and revealing the genotype-phenotype correlations. Additionally, we demonstrated that using multigene panel-based genetic tests rather than single-gene tests in germline mutation screening in hereditary PCa will be more beneficial in terms of genetic counseling.

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Section: Discussionmentioning

confidence: 89%

Germline variant screening with targeted next generation sequencing in prostate cancer: phenotype-genotype correlation

2021

Turk J Med Sci

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“…Later, all types of germ cell tumors (such as seminomas, yolk sac tumors, embryonal carcinomas, etc.) arise as well [6,26,38,72,73,[132][133][134][135][136][137][138][139]. As to our review, most of the gonads of patients with AIS were abdomino-pelvic (51 cases, 23%) [10,[12][13][14][15]21,24,26,[31][32][33]35,37,39,42,[44][45][46]48,49,[51][52][53][54][56][57][58][59]62,[65][66][67][68][69]71,83] or inguinal (18 cases, 8%) …”

Section: Discussionmentioning

confidence: 99%

Androgen Insensitivity Syndrome with Bilateral Gonadal Sertoli Cell Lesions, Sertoli–Leydig Cell Tumor, and Paratesticular Leiomyoma: A Case Report and First Systematic Literature Review

Karseladze,

Asaturova,

Kiseleva

et al. 2024

JCM

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Androgen insensitivity syndrome (AIS) is a rare Mendelian disorder caused by mutations of the androgen receptor (AR) gene on the long arm of the X chromosome. As a result of the mutation, the receptor becomes resistant to androgens, and hence, karyotypically male patients (46,XY) carry a female phenotype. Their cryptorchid gonads are prone to the development of several types of tumors (germ cell, sex cord stromal, and others). Here, we report a 15-year-old female-looking patient with primary amenorrhea who underwent laparoscopic gonadectomy. Histologically, the patient’s gonads showed Sertoli cell hamartomas (SCHs) and adenomas (SCAs) with areas of Sertoli–Leydig cell tumors (SLCTs) and a left-sided paratesticular leiomyoma. Rudimentary Fallopian tubes were also present. The patient’s karyotype was 46,XY without any evidence of aberrations. Molecular genetic analysis of the left gonad revealed two likely germline mutations—a pathogenic frameshift deletion in the AR gene (c.77delT) and a likely pathogenic missense variant in the RAC1 gene (p.A94V). Strikingly, no somatic mutations, fusions, or copy number variations were found. We also performed the first systematic literature review (PRISMA guidelines; screened databases: PubMed, Scopus, Web of Science; ended on 7 December 2023) of the reported cases of patients with AIS showing benign or malignant Sertoli cell lesions/tumors in their gonads (n = 225; age: 4–84, mean 32 years), including Sertoli cell hyperplasia (1%), Sertoli cell nodules (6%), SCHs (31%), SCAs (36%), Sertoli cell tumors (SCTs) (16%), and SLCTs (4%). The few cases (n = 14, 6%; six SCAs, four SCTs, two SLCTs, and two SCHs) with available follow-up (2–49, mean 17 months) showed no evidence of disease (13/14, 93%) or died of other causes (1/14, 7%) despite the histological diagnosis. Smooth muscle lesions/proliferations were identified in 19 (8%) cases (including clearly reported rudimentary uterine remnants, 3 cases; leiomyomas, 4 cases). Rudimentary Fallopian tube(s) were described in nine (4%) cases. Conclusion: AIS may be associated with sex cord/stromal tumors and, rarely, mesenchymal tumors such as leiomyomas. True malignant sex cord tumors can arise in these patients. Larger series with longer follow-ups are needed to estimate the exact prognostic relevance of tumor histology in AIS.

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“…When the proto-oncogene c-Kit is mutated, the Kit protein show an activated state without binding to the ligand SCF, thereby stimulating the continuous proliferation of tumor cells and inducing the uncontrolled anti-apoptotic signal, resulting in the cancerization [ 30 ]. It was reported that compared with normal testicular tissue, 88 % (22/25) of seminoma and 44.4 % (4/9) of non-seminoma expressed kit protein, of which 9 cases expressed kit protein seminoma detected c-kit gene mutation (40.9 %, 9/22) [ 31 ]. In addition, Cheng et al reported that among 22 patients with germ cell tumors, 6 cases (27 %) were detected with c-Kit gene point mutation [ 32 ].…”

Section: Discussionmentioning

confidence: 99%

Subgrouping testicular germ cell tumors based on immunotherapy and chemotherapy associated lncRNAs

Cao,

Liu,

Yuan

et al. 2024

Heliyon

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Cryptorchidism and Testicular Tumor: Comprehensive Analysis of Common Clinical Features and Search of SNVs in the KIT and AR Genes

Cited by 9 publications

References 31 publications

Germline variant screening with targeted next generation sequencing in prostate cancer: phenotype-genotype correlation

Germline variant screening with targeted next generation sequencing in prostate cancer: phenotype-genotype correlation

Androgen Insensitivity Syndrome with Bilateral Gonadal Sertoli Cell Lesions, Sertoli–Leydig Cell Tumor, and Paratesticular Leiomyoma: A Case Report and First Systematic Literature Review

Subgrouping testicular germ cell tumors based on immunotherapy and chemotherapy associated lncRNAs

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