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

2021 ◽  
pp. jmedgenet-2020-107434
Author(s):  
Lisa Golmard ◽  
Lauren M Vasta ◽  
Valérie Duflos ◽  
Carole Corsini ◽  
Catherine Dubois d'Enghien ◽  
...  
Keyword(s):  
Sertoli Cell ◽  
Leydig Cell ◽  
Autosomal Dominant ◽  
Pathogenic Variant ◽  
Cell Tumour ◽  
Malignant Tumours ◽  
Tumour Diagnosis ◽  
Sertoli Cell Tumour ◽  
Leydig Cell Tumour ◽  
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.

Mixed Testicular Neoplasia in a Common Dolphin (Delphinus delphis) Involving Sertoli Cell Tumour, Interstitial (Leydig) Cell Tumour and Seminoma

2013 ◽  
Vol 148 (1) ◽  
pp. 91
Author(s):  
M. Arbelo ◽  
J. Díaz-Delgado ◽  
A. Espinosa de los Monteros ◽  
C. Fernández-Maldonado ◽  
O. Quesada ◽  
...  
Keyword(s):  
Sertoli Cell ◽  
Leydig Cell ◽  
Cell Tumour ◽  
Common Dolphin ◽  
Delphinus Delphis ◽  
Sertoli Cell Tumour ◽  
Leydig Cell Tumour

scholarly journals Ageing, testicular tumours and the pituitary-testis axis in dogs

2000 ◽  
Vol 166 (1) ◽  
pp. 153-161 ◽  
Author(s):  
MA Peters ◽  
FH de Jong ◽  
KJ Teerds ◽  
DG de Rooij ◽  
SJ Dieleman ◽  
...  
Keyword(s):  
Sertoli Cell ◽  
Leydig Cell ◽  
Venous Blood ◽  
Cell Tumour ◽  
Age Related ◽  
Sertoli Cell Tumour ◽  
Leydig Cell Tumour ◽  
Sertoli Cell Tumours ◽  
Leydig Cell Tumours ◽  
Age Related Changes

Dogs of different ages without testicular diseases were evaluated to study possible age-related changes in hormone concentrations in serum. Dogs with testicular tumours were also investigated to study the relation between tumour type and hormone concentrations; in this study, dogs with Sertoli cell tumours, Leydig cell tumours and seminomas were included. We measured testosterone, oestradiol, LH, FSH and inhibin-like immunoreactivity concentrations in peripheral venous and testicular venous blood of these animals. In normal dogs there appeared to be no age-related changes in the concentrations of the investigated hormones, except for a significant age-related decrease in oestradiol concentrations in testicular venous blood (P<0.02). Dogs with a Sertoli cell tumour had greater oestradiol concentrations and inhibin-like immunoreactivity in both peripheral and testicular venous blood than did dogs without a neoplasm (P<0. 05). Testosterone concentrations were reduced in dogs with Sertoli cell tumours, as were FSH and LH. Feminisation occurred in eight of 13 dogs with a Sertoli cell tumour and in two of 14 dogs with a Leydig cell tumour; it was accompanied by a significantly greater oestradiol concentration than in normal dogs and in dogs with Sertoli cell tumours without signs of feminisation. Dogs with a Leydig cell tumour had greater concentrations of oestradiol and inhibin-like immunoreactivity in both peripheral venous and testicular venous blood than did dogs without a neoplasm (P<0.05). The testosterone concentration in testicular venous blood of these dogs was lower than that in dogs with normal testes. The concentration of LH in peripheral venous blood was also reduced (P<0. 05). Hormone concentrations in dogs with a seminoma were not different from those in normal dogs. It was concluded that seminomas are not endocrinologically active. In contrast, both Sertoli cell tumours and Leydig cell tumours can cause increased oestrogen production leading to signs of feminisation. These tumours also have considerable amounts of inhibin-like immunoreactivity, but only in Sertoli cell tumours does this result in a reduction in FSH concentrations, suggesting that Sertoli cell tumours secrete dimeric inhibin, whereas Leydig cell tumours presumably produce loose alpha-subunits that cross-react in the inhibin assay but are not biologically active.

scholarly journals A family with Sertoli–Leydig cell tumour, multinodular goiter, and DICER1 mutation

2019 ◽  
Vol 26 (3) ◽  
Author(s):  
M. G. Haley ◽  
P. Bindal ◽  
A. McAuliffe ◽  
J. Vredenburgh
Keyword(s):  
Leydig Cell ◽  
Multinodular Goiter ◽  
Early Recognition ◽  
Adult Population ◽  
Cell Cancer ◽  
Cell Tumour ◽  
Cancer Risks ◽  
Leydig Cell Tumour ◽  
History Of ◽  
Dicer1 Syndrome

Background DICER1 syndrome is an autosomal dominant tumour predisposition syndrome associated with a wide variety of cancerous and noncancerous conditions, including ovarian sex cord–stromal tumours and thyroid conditions, including multinodular goiter. The most common ovarian sex cord–stromal tumour associated with DICER1 syndrome is Sertoli–Leydig cell tumour, with germline DICER1 mutations present in more than 50% of cases. We present a case in which a patient in her late 30s was diagnosed with a Sertoli–Leydig cell tumour in the background of a strong family history of multinodular goiter and Sertoli–Leydig cell tumour with a germline mutation in DICER1.Case Presentation A 38-year-old woman with history of multinodular goiter was found to have stage iiic ovarian Sertoli–Leydig cell cancer after presenting with abdominal pain. She underwent multiple surgeries and chemotherapy. The patient developed rapid disease progression and died 7 months after diagnosis. Seven years earlier, a daughter had experienced the same disease and was found to have a germline DICER1 mutation. The mother had not undergone testing before her own diagnosis.Summary The co-occurrence of Sertoli–Leydig cell tumour and multinodular goiter is highly suggestive of DICER1 syndrome. The recognition of DICER1 syndrome within a family is essential for increased awareness and potential early recognition of complications. Most conditions associated with DICER1 syndrome occur in childhood, and most of the current screening recommendations are specific for childhood and young adulthood. Cancer risks and findings for the adult population are not as well defined. Clinicians who encounter DICER1 syndrome should review recommendations for genetic testing and surveillance and enrol patients in the DICER1 registry.

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

2019 ◽  
Vol 57 (216) ◽  
Author(s):  
Sundar Shrestha ◽  
Niroj Banepali ◽  
Rakesh Sthapit ◽  
Dipesh Agrawal
Keyword(s):  
Leydig Cell ◽  
Gonadal Dysgenesis ◽  
Dehydrogenase Deficiency ◽  
Androgen Insensitivity Syndrome ◽  
Cell Tumour ◽  
Primary Amenorrhea ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Sertoli Cell Tumour ◽  
Leydig Cell Tumour

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.

NEW VIEWS ON THE HORMONE-PRODUCING MESENCHYMOMAS OF THE OVARIES

1960 ◽  
Vol XXXV (IV) ◽  
pp. 513-517
Author(s):  
W. P. Plate
Keyword(s):  
Granulosa Cell ◽  
Sertoli Cell ◽  
Leydig Cell ◽  
Cell Tumour ◽  
Theca Cell ◽  
Granulosa Cell Tumour ◽  
Sertoli Cell Tumours ◽  
Leydig Cell Tumours

ABSTRACT The hormone-producing mesenchymomas of the ovaries can be divided into androblastomas and gynaecoblastomas. The former are derived from »male« elements, and consist of Sertoli-cell tumours and Leydig-cell tumours. The latter arise from »female« elements and consist of granulosacell tumours and theca-cell tumours. Sertoli-cell tumours and granulosacell tumours produce oestrogens, while Leydig-cell tumours and theca-cell tumours produce oestrogens or androgens. Histologically, androblastomas and gynaecoblastomas are often difficult to distinguish. Since no »female« elements occur in a testicle, a granulosa-cell tumour in a testicle is improbable. Gynandroblastomas, therefore, can only be found in an ovary.

Malignant Leydig cell tumour of the testis: case report and review of the literature

2018 ◽  
Author(s):  
Maria Shekhovtsova ◽  
Gisela Lage ◽  
Liliana Lima dos Santos ◽  
Ana Pires-Luís
Keyword(s):  
Case Report ◽  
Leydig Cell ◽  
Cell Tumour ◽  
Review Of The Literature ◽  
Leydig Cell Tumour

scholarly journals Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
B. Wormald ◽  
S. Elorbany ◽  
H. Hanson ◽  
J. W. Williams ◽  
S. Heenan ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Leydig Cell ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Autosomal Dominant Fashion ◽  
Rare Tumours ◽  
Leydig Cell Tumour ◽  
Underlying Pathology ◽  
Leydig Cell Tumours

Sertoli-Leydig cell tumours of the ovary (SLCT) are rare tumours predominantly caused by mutations in the DICER1 gene. We present a patient with a unilateral SLCT who had an underlying germline DICER1 gene mutation. We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing DICER1 syndrome. The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT.

Germline mutation in the STK11 gene in a girl with an ovarian Sertoli cell tumour

2006 ◽  
Vol 166 (10) ◽  
pp. 1083-1085 ◽  
Author(s):  
Guy Massa ◽  
Nele Roggen ◽  
Marleen Renard ◽  
Johan J. P. Gille
Keyword(s):  
Sertoli Cell ◽  
Germline Mutation ◽  
Cell Tumour ◽  
Stk11 Gene ◽  
Sertoli Cell Tumour
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