DICER1-associated Tumors in the Female Genital Tract: Molecular Basis, Clinicopathologic Features, and Differential Diagnosis
DICER1 syndrome is a tumor predisposition syndrome in which patients are at an increased risk of developing a wide variety of benign and malignant neoplasms with a hallmark constellation of pediatric pleuropulmonary blastoma, cystic nephroma, and thyroid lesions. DICER1 encodes an RNA endoribonuclease that is crucial to the processing of microRNA and may play a role in the maturation of Müllerian tissue. Within the gynecologic tract, germline mutations in DICER1 are associated with an array of rare tumors, including Sertoli-Leydig cell tumor, embryonal rhabdomyosarcoma of the cervix, gynandroblastoma, and juvenile granulo...
Source: Advances in Anatomic Pathology - August 21, 2022 Category: Pathology Tags: Review Articles Source Type: research
Sex cord stromal tumors and tumors of the paratestis: new and old entities in a landscape of rare tumors
Purpose of review
The 5th edition of WHO classification incorporates the most relevant new data available in the literature regarding tumors of the male genitourinary tract. In this review, the authors summarize and critically discuss the most relevant new information regarding tumors occurring in the stromal testis and in the paratestis that will be reported in the new edition of WHO classification of tumors of the male genitourinary tract.
Recent findings
Signet-ring stromal tumors (SRST) and myoid gonadal stromal tumors (MGST) are two new entities brought in the 5th WHO classification of testicular tumors. Al...
Source: Current Opinion in Urology - June 29, 2022 Category: Urology & Nephrology Tags: URO PATHOLOGY: Edited by Eva M. Compérat Source Type: research
Large Cell Calcifying Sertoli Cell Tumor: A Clinicopathologic Study of 18 Cases With Comprehensive Review of the Literature and Reappraisal of Prognostic Features
We present a series of 18 (8 clinically benign, 8 clinically ambiguous [ie, lacking sufficient follow-up to determine behavior], and 2 clinically malignant) large cell calcifying Sertoli cell tumors (LCCSCT) of the testis. The median patient age and size were 15.5 years and 1.9 cm for the benign tumors; 19 years and 1.6 cm for the ambiguous tumors; and 28.5 years and 2.3 cm for the malignant tumors. The most common presentation was a mass (n=12/18, 67%). Two patients (11%) had the Carney complex, and 2 had neurofibromatosis type 1. All tumors showed nodular growth with frequent lymphoid aggregates at the periphery. W...
Source: The American Journal of Surgical Pathology - April 23, 2022 Category: Pathology Tags: Original Articles Source Type: research
Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome
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. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - March 23, 2022 Category: Genetics & Stem Cells Authors: Golmard, L., Vasta, L. M., Duflos, V., Corsini, C., Dubois d'Enghien, C., McMaster, M. L., Harney, L. A., Carr, A. G., Ling, A., Dijoud, F., Gauthier, A., Miettinen, M., Cost, N. G., Gauthier-Villars, M., Orbach, D., Irtan, S., Haouy, S., Schultz, K. A., Tags: Cancer genetics Source Type: research
A novel 8.57-kb deletion of the upstream region of PRKAR1A in a family with Carney complex
Mol Genet Genomic Med. 2022 Feb 6:e1884. doi: 10.1002/mgg3.1884. Online ahead of print.ABSTRACTCarney complex (CNC) is a rare hereditary syndrome that involves endocrine dysfunction and the development of various types of tumors. Chromosome 2p16 and PRKAR1A on chromosome 17 are known susceptibility loci for CNC. Here we report a mother and son with CNC caused by an 8.57-kb deletion involving the transcription start site and non-coding exon 1 of PRKAR1A. The proband is a 28-year-old male with bilateral large-cell calcified Sertoli cell testicular tumors and pituitary adenoma. Comprehensive genomic profiling for cancer mutat...
Source: Molecular Medicine - February 7, 2022 Category: Molecular Biology Authors: Shin Ito Aya Hashimoto Kazunori Yamaguchi Sadafumi Kawamura Shingo Myoen Maki Ogawa Ikuro Sato Takamichi Minato Shingo Miyabe Akira Nakazato Keitaro Fujii Mai Mochizuki Haruna Fujimori Keiichi Tamai Tetsuya Niihori Yoko Aoki Akira Sugawara Hironobu Sasano Source Type: research
A novel 8.57 ‐kb deletion of the upstream region of PRKAR1A in a family with Carney complex
There is an inherited deletion of PRKAR1A gene that causes Carney complex. The deletion involves the promoter and non-coding first exon of the PRKAR1A gene. AbstractCarney complex (CNC) is a rare hereditary syndrome that involves endocrine dysfunction and the development of various types of tumors. Chromosome 2p16 andPRKAR1A on chromosome 17 are known susceptibility loci for CNC. Here we report a mother and son with CNC caused by an 8.57-kb deletion involving the transcription start site and non-coding exon 1 ofPRKAR1A. The proband is a 28-year-old male with bilateral large-cell calcified Sertoli cell testicular tumors and...
Source: Molecular Genetics & Genomic Medicine - February 7, 2022 Category: Genetics & Stem Cells Authors: Shin Ito,
Aya Hashimoto,
Kazunori Yamaguchi,
Sadafumi Kawamura,
Shingo Myoen,
Maki Ogawa,
Ikuro Sato,
Takamichi Minato,
Shingo Miyabe,
Akira Nakazato,
Keitaro Fujii,
Mai Mochizuki,
Haruna Fujimori,
Keiichi Tamai,
Tetsuya Niihori,
Yoko Aoki, Tags: ORIGINAL ARTICLE Source Type: research
Testicular Lesions in Infertile Men
CONCLUSIONS: The high incidence of Leydig cell tumors and the accuracy of FSE for these lesions demonstrate the interest in FSE. In contrast, FSE is not reliable for fibrous lesions, and surgeons should be aware that a fibrosis result often corresponds with regressed tumors.PMID:34935941 | DOI:10.1093/ajcp/aqab214 (Source: American Journal of Clinical Pathology)
Source: American Journal of Clinical Pathology - December 22, 2021 Category: Pathology Authors: Margot Dupeux Florian Maxwell Laurence Rocher Vincent Izard Catherine Guettier Sophie Ferlicot Source Type: research
Testicular Lesions in Infertile Men
CONCLUSIONS: The high incidence of Leydig cell tumors and the accuracy of FSE for these lesions demonstrate the interest in FSE. In contrast, FSE is not reliable for fibrous lesions, and surgeons should be aware that a fibrosis result often corresponds with regressed tumors.PMID:34935941 | DOI:10.1093/ajcp/aqab214 (Source: American Journal of Clinical Pathology)
Source: American Journal of Clinical Pathology - December 22, 2021 Category: Pathology Authors: Margot Dupeux Florian Maxwell Laurence Rocher Vincent Izard Catherine Guettier Sophie Ferlicot Source Type: research
Testicular Lesions in Infertile Men
CONCLUSIONS: The high incidence of Leydig cell tumors and the accuracy of FSE for these lesions demonstrate the interest in FSE. In contrast, FSE is not reliable for fibrous lesions, and surgeons should be aware that a fibrosis result often corresponds with regressed tumors.PMID:34935941 | DOI:10.1093/ajcp/aqab214 (Source: American Journal of Clinical Pathology)
Source: American Journal of Clinical Pathology - December 22, 2021 Category: Pathology Authors: Margot Dupeux Florian Maxwell Laurence Rocher Vincent Izard Catherine Guettier Sophie Ferlicot Source Type: research
Testicular Lesions in Infertile Men
CONCLUSIONS: The high incidence of Leydig cell tumors and the accuracy of FSE for these lesions demonstrate the interest in FSE. In contrast, FSE is not reliable for fibrous lesions, and surgeons should be aware that a fibrosis result often corresponds with regressed tumors.PMID:34935941 | DOI:10.1093/ajcp/aqab214 (Source: American Journal of Clinical Pathology)
Source: American Journal of Clinical Pathology - December 22, 2021 Category: Pathology Authors: Margot Dupeux Florian Maxwell Laurence Rocher Vincent Izard Catherine Guettier Sophie Ferlicot Source Type: research
Testicular Lesions in Infertile Men
CONCLUSIONS: The high incidence of Leydig cell tumors and the accuracy of FSE for these lesions demonstrate the interest in FSE. In contrast, FSE is not reliable for fibrous lesions, and surgeons should be aware that a fibrosis result often corresponds with regressed tumors.PMID:34935941 | DOI:10.1093/ajcp/aqab214 (Source: American Journal of Clinical Pathology)
Source: American Journal of Clinical Pathology - December 22, 2021 Category: Pathology Authors: Margot Dupeux Florian Maxwell Laurence Rocher Vincent Izard Catherine Guettier Sophie Ferlicot Source Type: research
Testicular Lesions in Infertile Men
CONCLUSIONS: The high incidence of Leydig cell tumors and the accuracy of FSE for these lesions demonstrate the interest in FSE. In contrast, FSE is not reliable for fibrous lesions, and surgeons should be aware that a fibrosis result often corresponds with regressed tumors.PMID:34935941 | DOI:10.1093/ajcp/aqab214 (Source: American Journal of Clinical Pathology)
Source: American Journal of Clinical Pathology - December 22, 2021 Category: Pathology Authors: Margot Dupeux Florian Maxwell Laurence Rocher Vincent Izard Catherine Guettier Sophie Ferlicot Source Type: research
Testicular Lesions in Infertile Men
CONCLUSIONS: The high incidence of Leydig cell tumors and the accuracy of FSE for these lesions demonstrate the interest in FSE. In contrast, FSE is not reliable for fibrous lesions, and surgeons should be aware that a fibrosis result often corresponds with regressed tumors.PMID:34935941 | DOI:10.1093/ajcp/aqab214 (Source: American Journal of Clinical Pathology)
Source: American Journal of Clinical Pathology - December 22, 2021 Category: Pathology Authors: Margot Dupeux Florian Maxwell Laurence Rocher Vincent Izard Catherine Guettier Sophie Ferlicot Source Type: research
Testicular Lesions in Infertile Men
CONCLUSIONS: The high incidence of Leydig cell tumors and the accuracy of FSE for these lesions demonstrate the interest in FSE. In contrast, FSE is not reliable for fibrous lesions, and surgeons should be aware that a fibrosis result often corresponds with regressed tumors.PMID:34935941 | DOI:10.1093/ajcp/aqab214 (Source: American Journal of Clinical Pathology)
Source: American Journal of Clinical Pathology - December 22, 2021 Category: Pathology Authors: Margot Dupeux Florian Maxwell Laurence Rocher Vincent Izard Catherine Guettier Sophie Ferlicot Source Type: research
Testicular Lesions in Infertile Men
CONCLUSIONS: The high incidence of Leydig cell tumors and the accuracy of FSE for these lesions demonstrate the interest in FSE. In contrast, FSE is not reliable for fibrous lesions, and surgeons should be aware that a fibrosis result often corresponds with regressed tumors.PMID:34935941 | DOI:10.1093/ajcp/aqab214 (Source: American Journal of Clinical Pathology)
Source: American Journal of Clinical Pathology - December 22, 2021 Category: Pathology Authors: Margot Dupeux Florian Maxwell Laurence Rocher Vincent Izard Catherine Guettier Sophie Ferlicot Source Type: research
