Review
Pathology
Lucy M. Han, Julianna J. Weiel, Teri A. Longacre, Ann K. Folkins
Summary: DICER1 syndrome is a tumor predisposition syndrome that increases the risk of developing various tumors. Mutations in DICER1 are associated with rare gynecologic tumors and other gynecologic tumor mutations. Genetic counseling should be considered for patients with a personal or family history of DICER1-associated gynecologic tumors.
ADVANCES IN ANATOMIC PATHOLOGY
(2022)
Article
Pathology
Zehra Ordulu, Robert H. Young
Summary: This study described 38 ovarian Sertoli-Leydig cell tumors containing follicles, with most tumors showing characteristics of intermediate differentiation Sertoli-Leydig cell tumors, but also featuring follicles mimicking juvenile granulosa cell tumors.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2021)
Review
Medicine, General & Internal
Elisa De Paolis, Rosa Maria Paragliola, Paola Concolino
Summary: Sertoli-Leydig Cell Tumors (SLCTs) are rare ovarian neoplasms that primarily affect adolescents and young female adults. The diagnosis and treatment of SLCTs remain challenging due to their rarity and varied presentation. DICER1 gene mutations are common in approximately 60% of SLCTs, especially in moderately or poorly differentiated types.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, Research & Experimental
Bayan Maraqa, Maxim Al-Ashhab, Nazmi Kamal, Maher Sughayer, Fareed Barakat
Summary: Mixed sex cord-stromal tumors are rare, usually unilateral and stage I at diagnosis. This case report describes a 15-year-old girl initially diagnosed with a juvenile granulosa cell tumor, but a different growth pattern resembling a Sertoli-Leydig cell tumor was found 1 year later. Immunohistochemical staining confirmed the tumors were linked and most likely a gynandroblastoma, emphasizing the importance of considering diverse tumor morphology. Bilateral metachronous involvement of the ovaries is possible, and the grade of the Sertoli-Leydig cell component may affect prognosis.
JOURNAL OF INTERNATIONAL MEDICAL RESEARCH
(2023)
Article
Oncology
William Terry, Erica M. Carlisle, Paige Mallinger, Alexander T. Nelson, David Gordon, Yoav H. Messinger, Amanda Field, Louis P. Dehner, D. Ashley Hill, Kris Ann P. Schultz
Summary: A 2-year-old boy was diagnosed with a rare lung tumor, PPB, and achieved complete response after surgery and chemotherapy. Despite recurrence one year later, the tumor was controlled through surgery and chemotherapy.
PEDIATRIC BLOOD & CANCER
(2021)
Article
Pathology
W. Glenn McCluggage, Barbara Rivera, Anne-Sophie Chong, Blaise A. Clarke, Kris Ann P. Schultz, Louis P. Dehner, Nairi Tchrakian, Maria Apellaniz-Ruiz, C. Blake Gilks, Friedrich Kommoss, Colin J. R. Stewart, William D. Foulkes
Summary: In this study, DICER1 molecular testing was performed on 18 cases of well-differentiated SLCT, and all were found to be DICER1 wild-type. Based on the molecular and morphological observations, it is suggested that well-differentiated SLCT is a distinct and unrelated tumor type in the ovarian sex cord-stromal tumor family, separate from the more common moderately/poorly differentiated and retiform SLCTs.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2023)
Article
Oncology
Lucas Minig, Myriam Gracia Segovia, Octavio Arencibia, Cristina Zorrero, Lola Marti, Virginia Garcia Pineda, Juan Cespedes, Isabel Niguez, Blanca Gil-Ibanez, Berta Diaz-Feijoo, Soledad Fidalgo, Irene Valencia, Teodora Alonso-Gutierrez, Lorena Gonzalez, Amanda Veiga-Fernandez, Enrique Chacon, Isabel Negredo, Leticia Azcona Sutil, Mikel Gorostidi, Ignacio Zapardiel
Summary: This study aimed to determine the oncological outcomes and prognostic factors in women under 45 years old diagnosed with non-epithelial ovarian cancer. The study found that body mass index (BMI), residual disease, and sex-cord histology were important independent prognostic factors associated with worse outcomes in these women.
INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER
(2023)
Article
Pathology
Pauline Baillard, Catherine Genestie, Sabrina Croce, Francoise Descotes, Etienne Rouleau, Isabelle Treilleux, Sebastien Gouy, Philippe Morice, Isabelle Ray-Coquard, W. Glenn McCluggage, Mojgan Devouassoux-Shisheboran
Summary: FOXL2 mutations were not detected in JGCTs in this study, while only a small percentage of these neoplasms exhibited DICER1 mutations.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2021)
Article
Obstetrics & Gynecology
Joseph C. C. Lau, W. Glenn McCluggage, Liz Y. P. Yuen, Matthew M. K. Shing, Godfrey C. F. Chan, Felix S. D. Yam, Michael W. Y. Leung, Wai-Fu Ng, Anthony P. Y. Liu
Summary: We present a rare case of a pelvic extraovarian moderately differentiated Sertoli-Leydig cell tumor in a 4-year-old female. The tumor exhibited a DICER1 pathogenic variant that was not present in the germline, ruling out DICER1 syndrome. In addition to reporting this case, we discuss the differential diagnosis, possible histogenesis, and review previously reported cases of extraovarian Sertoli-Leydig cell tumor.
INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY
(2023)
Review
Pharmacology & Pharmacy
Yanglin Ni, Xuan Zhou, Ling Wu, Ping Wu, Ying Liu, Yinnan Li, Li Cai, Xueshu Fu, Chunhua Zhang
Summary: DICER1 syndrome is a rare tumor predisposition syndrome caused by germ line DICER1 mutation, related to various benign and malignant diseases. Genetic testing can aid in diagnosing DICER1 syndrome and formulating related surveillance strategies. Awareness of DICER1 syndrome may lead to early recognition of rare pediatric tumors and appropriate therapeutic management.
PHARMACOGENOMICS & PERSONALIZED MEDICINE
(2021)
Article
Obstetrics & Gynecology
Shalon Liu, Alida J. Pokoradi, Donald Soboleski, Timothy Childs, Anita Agrawal
Summary: This case report presents a rare but highly aggressive ovarian Sertoli-Leydig cell tumor in a pediatric patient with a DICER1 mutation and a history of cystic nephroma. The patient underwent surgical staging, adjuvant chemotherapy, and multiple treatments for recurrences, including chemotherapy, whole-abdomen radiation therapy, and surgical debulking. The report adds to the limited evidence on this rare tumor, particularly in the recurrent setting, and emphasizes the importance of cancer diagnosis in this population.
JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY
(2023)
Article
Oncology
Liz N. Edmund, Abeer M. Salama, Rajmohan Murali
Summary: This study details the cytomorphologic features of gynecologic sex cord-stromal tumors in females, such as AGCTs and JGCTs, providing insights for accurate diagnosis of these tumors.
CANCER CYTOPATHOLOGY
(2022)
Article
Pathology
Andres M. Acosta, Lynette M. Sholl, Fiona Maclean, Chia-Sui Kao, Thomas M. Ulbright
Summary: This study assessed the clinicopathologic and genomic features of 14 cases of testicular sex cord-stromal tumors. The results showed that CTNNB1 mutations are rare in these tumors, and most of them have genomic alterations similar to testicular sex cord-stromal tumors with pure or predominant spindle cell components.
Article
Cell Biology
Xin Fang, Linfeng Nie, Satwikreddy Putluri, Nan Ni, Laurent Bartholin, Qinglei Li, Hideyuki Takeshima
Summary: Sertoli cell-specific activation of TGFBR1 leads to the formation of TGCTs in mouse testis, highlighting the important contribution of Sertoli cell reprogramming to the development of this malignancy.
Article
Medicine, General & Internal
Li-juan Huang, Liang-yan Shi, Jie Duan
Summary: OSLCT is an extremely rare tumor that can present with different endocrine abnormalities, leading to potential misdiagnosis. Menopausal women with elevated serum testosterone should be highly suspected of ovarian tumors after excluding adrenal gland-related diseases.