Uterine leiomyomas (uterine fibroids) arise from smooth muscle tissue in the majority of women by age 45. It is common for these clonal tumors to develop from multiple locations within the uterus, leading to a variety of symptoms such as pelvic pain, abnormal uterine bleeding, and infertility. We performed whole exome sequencing on genomic DNA from five pairs of leiomyomas and corresponding nor...

Uterine leiomyomas were shown to be clonal lesions, but the relationship among different tumor nodules in multiple uterine leiomyomas remains unresolved. In this study, X-chromosomal inactivation patterns of these tumor nodules were shown by allelic polymorphism analysis through polymerase-chain reaction at the phosphoglycerate kinase and androgen receptor loci following pretreatment with the m...

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant manifestation of cutaneous and uterine leiomyomas together with renal cancer due to autosomal dominant germline mutations of fumarate hydratase gene. A twenty-year-old female patient presented with type-II segmental piloleiomyoma and increased menstruation due to uterine leiomyomas, with a history of bilateral n...

A series of reports in the literature suggest an association of neurofibromatosis Recklinghausen with intestinal tumors as carcinoids, leiomyomas and leiomyosarcomas. We present a case of a 23-year-old man with severe cutaneous manifestation of neurofibromatosis. Dysphagia was the main symptom. CT scan suggested the diagnosis of an oesophageal leiomyoma. The oesophageal muscle layers were split...

Leiomyomas are benign tumors that originate from smooth muscle cells. Leiomyomas are well known to be the commonest neoplasm arising from the uterus but leiomyomas originating from the scrotum is a rare entity. They originate from the subcutaneous tissue or tunica dartos and can be solitary or multiple. We present a case of solitary scrotal leiomyoma in a 75 years old male who presented with a ...

We recently found that aberrant DNA hypomethylation is more common on the X chromosome than on other chromosomes in uterine leiomyomas by genome-wide DNA methylation profiling. To investigate the mechanism of aberrant hypomethylation on the X chromosome in uterine leiomyomas, we analyzed methylome and transcriptome data from three cases of leiomyomas and the adjacent myometrium. We found that e...

Reed syndrome is a heritable cancer predisposition syndrome that can easily be missed due to its simple presentation of tender red papules. We present a young female with a history of uterine fibroids who presented to the dermatology clinic with several painful pink papules that had been previously evaluated by multiple physicians. Biopsy results were diagnostic for cutaneous leiomyomas, raisin...

Background: Leiomyomas represent the most common benign uterine tumors. Typically asymptomatic, they may determine menometrorrhagia, abdominal pain and infertility. They may be singular or multiple and may have variable size. When leiomyomas increase in size, their vascular supply may become insufficient determining different types of degeneration: hyaline, myxoid, cystic and hemorrhagic (red)....