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Using analysis of allelic loss (loss of heterozygosity [LOH]), we previously reported a putative progression pathway from germ cell neoplasia in situ (GCNIS) to seminoma and then to embryonal carcinoma in mixed-type testicular germ cell tumors. To identify the genetic backgrounds related to the progression of nonseminomatous germ cell tumor, patterns of LOH were studied in seminoma components in mixed tumors (18 cases), pure seminomas (20 cases), and coexisting GCNIS lesions. Each tumor was assessed for LOH at 22 polymorphic loci located on 12 chromosomal arms: 3q, 5q, 6p, 9p, 10q, 11p, 12p, 12q, 13q, 17p, 17q, and 18q. For all informative loci, the frequency of LOH in seminoma components in mixed tumors was significantly higher than that in pure seminomas (32% [96/302 loci] versus 19% [60/323 loci], P < .0001). The frequency of LOH in GCNIS lesions was not significantly different between the 2 tumor groups. The frequencies of LOH at chromosomes 6p and 10q were significantly higher in seminoma components in mixed tumors than in pure seminomas (P = .020 and P = .0041, respectively). Immunohistochemical analysis demonstrated a close association between the allelic status of the 10q23 locus and levels of phosphatase and tensin homolog deleted from chromosome 10 protein expression in seminoma (P = .00051). These data indicate that the seminoma, which has a potential to progress to nonseminomatous germ cell tumor, already exhibits several genetic changes including allelic losses of 6p and 10q, unlike pure seminoma., (Copyright © 2018. Published by Elsevier Inc.)

Objective: To study whether immunohistochemical detection of germ cell neoplasia in situ (GCNIS) in AgarCytos, made of the remnants of the testicular sperm extraction (TESE) specimen, is equally accurate as in a standard testicular biopsy.Design: Prospective cohort study performed between January 2013 and May 2014.Setting: University hospital.Patient(s): All men with nonobstructive azoospermia (n = 197) undergoing a urological work-up followed by a unilateral or bilateral TESE for fertility treatment were consecutively included.Intervention(s): An AgarCyto was made of the remnants of these TESE biopsies. Simultaneously a standard testicular biopsy was performed. For all cases a routine hematoxylin-eosin (H & E) staining was performed as well as immunohistochemistry (PLAP and OCT3/4) to detect GCNIS.Main Outcome Measure(s): The presence or absence of GCNIS in the TESE-AgarCyto and standard testicular biopsy.Result(s): Six men (3.0%) were diagnosed with a germ cell (pre)malignancy by immunohistochemistry. No cases were encountered in which the TESE-AgarCyto was negative, whereas the standard testicular biopsy was positive for GCNIS. In one case the TESE-AgarCyto detected a premalignancy that was missed by standard testicular biopsy. Unfortunately a standard testicular biopsy was not available for direct comparison in 50% of the GCNIS-positive patients due to various reasons.Conclusion(s): Because GCNIS is heterogeneously distributed in the testis, the TESE-AgarCyto can diagnose GCNIS even when the standard testicular biopsy is negative. Direct comparison of accuracy, however, is not reliable due to the low prevalence of GCNIS and the lack of a standard biopsy when an orchidectomy was performed simultaneously with TESE. [ABSTRACT FROM AUTHOR]

Gonadoblastoma and malignant transformations thereof can occur in females with Turner syndrome (TS) and Y chromosomal material. However, in females with TS and no Y chromosomal material, this is rarely seen. We report a female with an apparent 45,X karyotype (in blood and tumor) who was diagnosed with a metastatic embryonal carcinoma. Exome sequencing of blood and the tumor was done, and no Y chromosomal material was detected, while predicted deleterious mutations in KIT (likely driver), AKT1, and ZNF358 were identified in the tumor. The patient was treated with chemotherapy (first-line: cisplatin, etoposide, and bleomycin; second-line: paclitaxel and gemcitabine), and after that surgical debulking was performed. She is currently well and without signs of relapse. We conclude that embryonal carcinoma can apparently occur in 45,X TS without signs of Y chromosomal material., (© 2017 S. Karger AG, Basel.)