Human fumarase (HsFH) is a well-known citric acid cycle enzyme and is therefore a key component in energy metabolism. Genetic studies on human patients have shown that polymorphisms in the fumarase gene are responsible for diseases such as hereditary leiomyomatosis and renal cell cancer. As a first step in unravelling the molecular basis of the mechanism of fumarase deficiency in genetic disord...

Intravascular leiomyomatosis (IVL) is a benign smooth muscle tumor that evolves from the pelvic veins and can spread to the central veins and heart. Cardiac involvement is the most commonly reported presentation. Initial diagnosis is difficult, and IVL is commonly misdiagnosed as thrombus or atrial myxoma. Appropriate imaging and a high clinical suspicion are required for accurate diagnosis. We...

Program in Dermatopathology, Department of Pathology, Brigham andWomen’s Hospital, Harvard Medical School, Boston, MA, USA, Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA, Division of Dermatopathology, Department of Pathology, Tufts University School of Medicine, Boston, MA, USA and Department of Dermatology, Brigham andWomen’s Hospital, Harva...

We report the case of a 55-year-old woman with bilateral, large, calcified adrenal tumors who was treated by laparoscopic adrenalectomy. The patient presented with upper abdominal discomfort for the past 5 years. Her imaging showed bilateral enlarged adrenal glands up to 10-cm size with punctate calcifications. Positron emission tomography scan demonstrated moderate fluorodeoxyglucose avidity i...

Intravenous leiomyomatosis is a benign smooth muscle tumor which despite its histology can have devastating consequences. Furthermore, the clinical manifestations are variable and nonspecific, typically leading to delayed or missed diagnosis. Thus, it is critical for clinicians to be aware of this condition and have a high index of suspicion in a middle-aged woman with a history of uterine leio...

We present a case report of recurrent disseminated peritoneal leiomyomatosis in a 30-year-old female with a past history of laparoscopic myomectomy by a technique of morcellation for a large fibroid in 2014. After one year she presented in 2015 with a well-defined oval shaped fibroid along the anterior abdominal wall, which was supplied by the 10th intercostal artery and a branch of right inter...

Herein, we report on a well-characterized benign metastasizing leiomyoma, presented in an unusual site. Up to the knowledge of authors, so far, only 76 cases of benign metastasizing leiomyoma have been reported. The tumor presented as a retroperitoneal mass three years after a hysterectomy Performed for leiomyomatosis of the uterus with extensive areas of hyalinization. Histopathologic and immu...

A case of a 42-year-old woman with peritoneal leiomyomatosis (PL) unrelated to pregnancy or any other obvious hormonal source is presented. After treatment with leuprolide acetate for six months, a second-look operation revealed that the majority of the nodules totally regressed. The few remaining ones were substantially reduced in size and exhibited histopathologic evidence of fibrotic change....

Fumarate hydratase (FH), encoded by the FH gene, is an enzyme which catalyses conversion of fumarate to L-malate as part tricarboxylic acid cycle. Biallelic germline mutations in result fumaric aciduria, a metabolic disorder resulting severe neurological and developmental abnormalities. Heterozygous hereditary leiomyomatosis renal cell carcinoma, cancer predisposition syndrome. deficiency has m...