Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome

DICER1 syndrome is a rare paediatric autosomal dominant inherited disorder predisposing to various benign and malignant tumours. It is caused by a germline pathogenic variant in DICER1, and the second hit for tumour development is usually a missense hotspot pathogenic variant in the DICER1 ribonuclease IIIb domain. While DICER1 predisposing variants account for about 60% of ovarian Sertoli-Leydig cell tumours, no DICER1-related testicular stromal tumours have been described. Here we report the first two cases of testicular stromal tumours in children carrying a DICER1 germline pathogenic variant: a case of Sertoli cell tumour and a case of Leydig cell tumour diagnosed at 2 and 12 years of age, respectively. A somatic DICER1 hotspot pathogenic variant was detected in the Sertoli cell tumour. This report extends the spectrum of DICER1-related tumours to include testicular Sertoli cell tumour and potentially testicular Leydig cell tumour. Diagnosis of a testicular Sertoli cell tumour should prompt DICER1 genetic testing so that patients with a DICER1 germline pathogenic variant can benefit from established surveillance guidelines. DICER1 genetic evaluation may be considered for testicular Leydig cell tumour. Our findings suggest that miRNA dysregulation underlies the aetiology of some testicular stromal tumours.

Retrospective review of neoplasms of captive lizards in the United Kingdom

BackgroundNeoplasia has historically been regarded as an unusual occurrence in reptiles. The aim of the present study was to evaluate the prevalence of neoplasms in routine diagnostic samples submitted to a specialist exotic animal laboratory.MethodsOver a 10-year period, 690 lizard samples were submitted for histopathological or cytopathological examination by Royal College of Veterinary Surgeons specialists in Veterinary Pathology (Zoo and Wildlife). Records were reviewed retrospectively and non-neoplastic diagnoses excluded from further analysis.Results158 neoplasms were diagnosed in 149 lizards, with 22.9% of submissions resulting in a diagnosis of neoplasia. The skin was the most commonly affected organ, and squamous cell carcinomas were the most common neoplasms identified (17.7% of all neoplastic diagnoses).Bearded dragons and panther chameleons had a statistically significant higher proportion of neoplasia diagnosis than the lizard population as a whole, and geckos had a statistically significantly lower proportion.Several neoplasms identified in this study have not been previously reported in lizards, including a testicular Sertoli cell tumour, testicular granulosa cell tumour, splenic haemangiosarcoma, gastric adenocarcinoma and basal cell carcinoma.ConclusionThe results suggest that the prevalence of neoplasia in captive lizards may be higher than previously reported, and that there is variation in prevalence between different lizard species and families. It is unclear whether these differences relate to genetic or management factors.

Malignant Leydig Cell Tumor in Elderly Complete Androgen Insensitivity Patient: A Case Report

There are various cause of Primary amenorrhea in phenotypically females such as, complete androgen insensitivity syndrome, pure gonadal dysgenesis, 17b-hydroxysteroid dehydrogenase deficiency, or mixed gonadal dysgenesis. Primary amenorrhea in a phenotypically female is commonly encountered in Androgen insensitivity syndrome. In patients of AIS with intra-abdominal testis there is high chances of developing testicular tumour, among them Sertoli cell tumour and seminoma being the most common types. Leydig cell tumour in AIS is very rare and malignant leydig cell tumour is even further rarer. There are few case reported in the literatures of malignant leydig cell tumour with complete androgen insensitivity. Here we are reporting a case of 65 years married elderly patient with malignant leydig cell tumour with CAIS.