Background: Ovarian Sertoli-Leydig cell tumors (SLCTs) with androgenic manifestations harbor DICER1 mutations in 30-60% of cases. Ovarian SLCTs without DICER1 hotspot mutations have been reported to exhibit elderly onset and no androgenic manifestations. We present the first case of a primary mesenteric SLCT without DICER1 hotspot mutation.
Case Presentation: An 84-year-old woman presented with a 75-mm mesenteric solid tumor. She presented no androgenic or estrogenic manifestations. She underwent ileocecal resection. Histologically, her mesenteric tumor showed histopathological features that resembled moderately differentiated SLCT. Moreover, DICER1 hotspot mutation was not detected.
Conclusions: We described the first case of heterotopic primary mesenteric SLCT without DICER1 hotspot mutation.
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http://dx.doi.org/10.1186/s13000-019-0805-5 | DOI Listing |
J Clin Endocrinol Metab
October 2024
Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Background: Germline DICER1 mutations cause familial multinodular goiter (MNG). However, the prevalence of somatic DICER1 mutations in non-MNG benign thyroid nodules and their characteristics remain unknown.
Methods: Adult-onset thyroid nodules with a pathological diagnosis were genotyped via targeted sequencing.
Front Mol Biosci
October 2024
Bioinformatics Research Center, Pavlov First Saint Petersburg Medical State University, St. Petersburg, Russia.
The Dicer protein is an indispensable player in such fundamental cell pathways as miRNA biogenesis and regulation of protein expression in a cell. Most recently, both germline and somatic mutations in have been identified in diverse types of cancers, which suggests Dicer mutations can lead to cancer progression. In addition to well-known hotspot mutations in RNAase III domains, is characterized by a wide spectrum of variants in all the functional domains; most are of uncertain significance and unstated clinical effects.
View Article and Find Full Text PDFLung Cancer
September 2024
Cancer Axis, Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada. Electronic address:
Objective: Pulmonary blastoma is a rare, biphasic, adult-onset lung tumor. In this study, we investigate whether DICER1 pathogenic variants are a feature of pulmonary blastomas through in-depth analysis of the molecular events defining them.
Methods: We performed exome-wide sequencing and DNA methylation profiling of 8 pulmonary blastomas from 6 affected persons.
Gynecol Oncol
July 2024
International Pleuropulmonary Blastoma/DICER1 Registry, Children's Minnesota, Minneapolis, MN, USA; International Ovarian and Testicular Stromal Tumor Registry, Children's Minnesota, Minneapolis, MN, USA; Cancer and Blood Disorders, Children's Minnesota, Minneapolis, MN, USA. Electronic address:
Objective: Sertoli-Leydig cell tumors (SLCTs) are rare sex cord-stromal tumors, representing <0.5% of all ovarian tumors. We sought to describe prognostic factors, treatment and outcomes for individuals with ovarian SLCT.
View Article and Find Full Text PDFDiagn Pathol
April 2024
Department of Pathology, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.
Background: Müllerian adenosarcoma, a rare malignancy, presents diagnostic and therapeutic challenges. In this study, we conducted an analysis of the clinicopathological characteristics of 22 adenosarcomas, with a particular focus on screening for DICER1 hot mutations.
Methods: The cohort consisted of patients with adenosarcoma who were registered at the West China Second Hospital between the years 2020 and June 2022.
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