Thoracic Sertoli–Leydig cell tumor: An alternative type of pleuropulmonary blastoma associated with DICER1 variation

2021 ◽  
Author(s):  
William Terry ◽  
Erica M. Carlisle ◽  
Paige Mallinger ◽  
Alexander T. Nelson ◽  
David Gordon ◽  
...  
Keyword(s):  
Leydig Cell ◽  
Leydig Cell Tumor ◽  
Cell Tumor ◽  
Pleuropulmonary Blastoma ◽  
Alternative Type

Clinical heterogeneity and reduced penetrance in DICER1 syndrome: a report of three families

2021 ◽  
pp. 030089162110587
Author(s):  
Jacopo Azzollini ◽  
Andrea Ferrari ◽  
Alessandra Stracuzzi ◽  
Stefano Chiaravalli ◽  
Monica Terenziani ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Leydig Cell ◽  
Thyroid Nodules ◽  
Leydig Cell Tumor ◽  
Cell Tumor ◽  
Pleuropulmonary Blastoma ◽  
Novel Variant ◽  
Tubular Gland ◽  
Reduced Penetrance ◽  
Dicer1 Syndrome

Introduction: DICER1 syndrome is characterized by increased susceptibility to malignancies, mostly occurring in childhood. The range of phenotypic effects of DICER1 variants is under investigation, and the syndrome’s phenotypic spectrum is steadily widening. We report on three Italian families showing heterogeneous clinical presentation and reduced penetrance in family members. Case descriptions: Patient 1 is a 10-year-old girl with a Sertoli-Leydig cell tumor. Although family history was unremarkable, genetic testing identified a DICER1 germline variant, inherited from her healthy father. Benign thyroid nodules were subsequently diagnosed in both the proband and her father. Patient 2 is an 8-month-old boy with type 1 pleuropulmonary blastoma. His sister developed a nephroblastoma at age 2 years. A DICER1 novel variant was identified in both siblings and their healthy father. Patient 3 is a 22-year-old man who developed a spinal extramedullary intradural mass diagnosed as rhabdomyosarcoma with a peculiar tubular, gland-like component. Tumor testing revealed two pathogenic DICER1 variants, one of which was confirmed to be germline and identified in his 17-year-old healthy brother and in his father, who showed multiple thyroid nodules. Conclusions: Among our patients, three developed tumors most frequently associated with DICER1 syndrome (i.e. pleuropulmonary blastoma, nephroblastoma, and Sertoli-Leydig cell tumor). One developed a peculiar sarcoma of the spinal cord not previously described in DICER1 syndrome. Genetic testing in relatives highlighted the paternal origin and reduced penetrance in all families, with thyroid benign lesions as the most common features in otherwise unaffected individuals.

Ovarian Sertoli-Leydig Cell Tumor

2020 ◽  
Author(s):  
Keyword(s):  
Leydig Cell ◽  
Leydig Cell Tumor ◽  
Cell Tumor

Hyperandrogenism caused by a leydig cell tumor of the ovary: A case report

2020 ◽  
Author(s):  
Fernando Mendonça ◽  
Selma Souto ◽  
Daniela Magalhães ◽  
Ana Sofia Fernandes ◽  
Ana Rita Coelho ◽  
...  
Keyword(s):  
Case Report ◽  
Leydig Cell ◽  
Leydig Cell Tumor ◽  
Cell Tumor

scholarly journals Lipid composition and gonadotropin-mediated lipid metabolism of the M5480 murine Leydig cell tumor

1980 ◽  
Vol 21 (7) ◽  
pp. 862-867
Author(s):  
D H Albert ◽  
M Ascoli ◽  
D Puett ◽  
J G Coniglio
Keyword(s):  
Lipid Metabolism ◽  
Leydig Cell ◽  
Lipid Composition ◽  
Leydig Cell Tumor ◽  
Cell Tumor

Growth-arrest and inhomogenous echotexture of the affected testis after tumor enucleation for unilateral Leydig cell tumor

2001 ◽  
Vol 36 (9) ◽  
pp. 20-21 ◽  
Author(s):  
Ralf-Bodo Tröbs ◽  
Wolfgang Hoepffner ◽  
Thomas Friedrich ◽  
Joachim Bennek
Keyword(s):  
Leydig Cell ◽  
Growth Arrest ◽  
Leydig Cell Tumor ◽  
Cell Tumor ◽  
Tumor Enucleation

scholarly journals Hyperandrogenism, oligomenorrhea, and erythrocytosis caused by an ovarian Leydig cell tumor: A case report

2021 ◽  
Author(s):  
Fernando Mendonça ◽  
Selma Souto ◽  
Daniela Magalhães ◽  
Raquel Portugal ◽  
Ana Rita Coelho ◽  
...  
Keyword(s):  
Case Report ◽  
Leydig Cell ◽  
Leydig Cell Tumor ◽  
Cell Tumor

scholarly journals SEXUAL PRECOCITY OF TESTICULAR ORIGIN IN TWINS: EVOLUTION OF A LEYDIG CELL TUMOR

1990 ◽  
Vol 28 (4) ◽  
pp. 422-422
Author(s):  
G Madureira ◽  
I J P Arnhold ◽  
B B Mendonca ◽  
S Domenice ◽  
J Matielli ◽  
...  
Keyword(s):  
Leydig Cell ◽  
Leydig Cell Tumor ◽  
Cell Tumor ◽  
Sexual Precocity
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