• Ljubiša Jovanović, Svetlana Milenković, Luka Andrić, Radomir Stefanović, Branislav Milošević, Jelena Micić, Igor Pilić, Aleksandra Beleslin, Olga Mihaljević, and Milan Dokić.
• Department of Pathology and Medical Cytology, University Clinical Center of Serbia, Dr. Koste Todorovića 26, 11000 Belgrade, Serbia.
• Medicina (Kaunas). 2024 May 17; 60 (5).

AbstractBackground and Objectives: Mutations in succinate dehydrogenase (SDH) and fumarate hydratase (FH) give rise to various familial cancer syndromes, with these alterations being characteristic of certain types of histomorphologically specific leiomyomas that hold significant predictive value. Materials and Methods: This study presents two cases of uterine leiomyomas exhibiting rare histomorphological and genetic characteristics, which are crucial for prognosis and further treatment. Results: Distinct histopathological features such as marked nuclear atypia, intracellular eosinophilic globules, and abnormal intratumoral vessels raise suspicion for specific leiomyoma subtypes, which carry predictive significance for additional hereditary cancer syndromes. Immunohistochemical analysis confirmed FH/SDH deficiency in both patients, who underwent careful follow-up. Conclusions: This study describes two cases involving unusual leiomyomas, the histopathological characteristics of which may easily go unrecognized. These features hold predictive significance because their specific mutations point to additional hereditary cancer syndromes, highlighting the need for further examinations.

18 keywords...

hide…