Novel fumarate hydratase mutation in siblings with early onset uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer syndrome Journal Article
| Authors: | Gunnala, V.; Pereira, N.; Irani, M.; Lilienthal, D.; Pirog, E. C.; Soslow, R.; Caputo, T. A.; Elias, R.; Kligman, I.; Rosenwaks, Z. |
| Article Title: | Novel fumarate hydratase mutation in siblings with early onset uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer syndrome |
| Abstract: | Hereditary leiomyomatosis renal cell cancer syndrome is an autosomal dominant disorder characterized by uterine and cutaneous leiomyomas and increased predisposition to renal cell carcinoma, papillary type II. The syndrome is caused by heterozygous mutations to the fumarate hydratase (FH) gene located on chromosome 1. Affected females generally present with early onset, atypical uterine leiomyomas and cutaneous findings, however, delays in diagnosis are very common in patients with isolated uterine findings. We present a case series of 2 sisters in their 20s who presented with isolated uterine leiomyomas and were found to carry a novel mutation for the fumarate hydratase gene. One patient was referred for treatment of infertility and recurrent miscarriages and the other was referred for acute symptomatic anemia due to myomas. Prompt diagnosis of hereditary leiomyomatosis renal cell cancer was made due to a high index of clinical suspicion based on early onset disease and familial clustering as well as characteristic pathologic findings on uterine leiomyoma surgical specimen. Timely diagnosis not only allowed for genetic counseling and renal cancer surveillance, but also for fertility counseling given the increased morbidity associated with uterine leiomyoma due to hereditary leiomyomatosis and renal cell cancer syndrome. © Copyright 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the International Society of Gynecological Pathologists. |
| Keywords: | immunohistochemistry; adult; clinical article; human tissue; young adult; gene mutation; case report; laparotomy; ki 67 antigen; anemia; anticoagulant therapy; abdominal pain; dyspnea; lung embolism; echography; endoscopic surgery; sibling; kidney cancer; leiomyomatosis; erythrocyte transfusion; uterus myoma; autosomal dominant disorder; myomectomy; embryo transfer; endometriosis; female infertility; fumarate hydratase; in vitro fertilization; conjugated estrogen; vagina bleeding; spontaneous abortion; menorrhagia; erythrocyte concentrate; hemoperitoneum; human; female; priority journal; article; uterus synechia; x-ray computed tomography; hereditary leiomyomatosis and renal cell cancer syndrome; leiomyoma with bizarre nuclei; multiple cutaneous and uterine leiomyomatosis; reed syndrome; hereditary leiomyomatosis renal cell cancer syndrome; retained placenta |
| Journal Title: | International Journal of Gynecological Pathology |
| Volume: | 37 |
| Issue: | 3 |
| ISSN: | 0277-1691 |
| Publisher: | Lippincott Williams & Wilkins |
| Date Published: | 2018-05-01 |
| Start Page: | 256 |
| End Page: | 261 |
| Language: | English |
| DOI: | 10.1097/pgp.0000000000000423 |
| PROVIDER: | scopus |
| PMCID: | PMC5908258 |
| PUBMED: | 28700432 |
| DOI/URL: | |
| Notes: | Article -- Export Date: 1 May 2018 -- Source: Scopus |
