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Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome

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 locat...

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Autores principales: Gunnala, Vinay, Pereira, Nigel, Irani, Mohamad, Lilienthal, Debra, Pirog, Edyta C., Soslow, Robert, Caputo, Thomas A., Elias, Rony, Kligman, Isaac, Rosenwaks, Zev
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5908258/
https://www.ncbi.nlm.nih.gov/pubmed/28700432
http://dx.doi.org/10.1097/PGP.0000000000000423
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author Gunnala, Vinay
Pereira, Nigel
Irani, Mohamad
Lilienthal, Debra
Pirog, Edyta C.
Soslow, Robert
Caputo, Thomas A.
Elias, Rony
Kligman, Isaac
Rosenwaks, Zev
author_facet Gunnala, Vinay
Pereira, Nigel
Irani, Mohamad
Lilienthal, Debra
Pirog, Edyta C.
Soslow, Robert
Caputo, Thomas A.
Elias, Rony
Kligman, Isaac
Rosenwaks, Zev
author_sort Gunnala, Vinay
collection PubMed
description 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.
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spelling pubmed-59082582018-05-02 Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome Gunnala, Vinay Pereira, Nigel Irani, Mohamad Lilienthal, Debra Pirog, Edyta C. Soslow, Robert Caputo, Thomas A. Elias, Rony Kligman, Isaac Rosenwaks, Zev Int J Gynecol Pathol Pathology of the Corpus: Case Report 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. Lippincott Williams & Wilkins 2018-05 2017-07-12 /pmc/articles/PMC5908258/ /pubmed/28700432 http://dx.doi.org/10.1097/PGP.0000000000000423 Text en Copyright © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the International Society of Gynecological Pathologists. This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (http://creativecommons.org/licenses/by-nc-nd/4.0/) (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0/
spellingShingle Pathology of the Corpus: Case Report
Gunnala, Vinay
Pereira, Nigel
Irani, Mohamad
Lilienthal, Debra
Pirog, Edyta C.
Soslow, Robert
Caputo, Thomas A.
Elias, Rony
Kligman, Isaac
Rosenwaks, Zev
Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome
title Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome
title_full Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome
title_fullStr Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome
title_full_unstemmed Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome
title_short Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome
title_sort novel fumarate hydratase mutation in siblings with early onset uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer syndrome
topic Pathology of the Corpus: Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5908258/
https://www.ncbi.nlm.nih.gov/pubmed/28700432
http://dx.doi.org/10.1097/PGP.0000000000000423
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