U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Leiomyomatosis

MedGen UID:
60203
•Concept ID:
C0206654
•
Neoplastic Process
Synonym: Leiomyomatoses
SNOMED CT: Leiomyomatosis (1157154004); Intravascular leiomyomatosis (1157155003)
 
Monarch Initiative: MONDO:0003295

Definition

A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body. [from NCI]

Professional guidelines

PubMed

New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia.
Trpkov K, Hes O, Williamson SR, Adeniran AJ, Agaimy A, Alaghehbandan R, Amin MB, Argani P, Chen YB, Cheng L, Epstein JI, Cheville JC, Comperat E, da Cunha IW, Gordetsky JB, Gupta S, He H, Hirsch MS, Humphrey PA, Kapur P, Kojima F, Lopez JI, Maclean F, Magi-Galluzzi C, McKenney JK, Mehra R, Menon S, Netto GJ, Przybycin CG, Rao P, Rao Q, Reuter VE, Saleeb RM, Shah RB, Smith SC, Tickoo S, Tretiakova MS, True L, Verkarre V, Wobker SE, Zhou M, Gill AJ
Mod Pathol 2021 Jul;34(7):1392-1424. Epub 2021 Mar 4 doi: 10.1038/s41379-021-00779-w. PMID: 33664427
Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management.
Maher ER
World J Urol 2018 Dec;36(12):1891-1898. Epub 2018 Apr 21 doi: 10.1007/s00345-018-2288-5. PMID: 29680948Free PMC Article
Is Immunohistochemical Screening of Cutaneous Leiomyomas for the Early Detection of Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome Justified?
Harvey NT, Wood BA
Am J Dermatopathol 2018 Dec;40(12):939-940. doi: 10.1097/DAD.0000000000001016. PMID: 29053494

Recent clinical studies

Etiology

Functional implications of fumarate-induced cysteine succination.
Guberovic I, Frezza C
Trends Biochem Sci 2024 Sep;49(9):775-790. Epub 2024 Jun 13 doi: 10.1016/j.tibs.2024.05.003. PMID: 38876954
Hereditary Renal Cell Carcinoma Syndromes.
Carlo MI
Hematol Oncol Clin North Am 2023 Oct;37(5):841-848. Epub 2023 May 29 doi: 10.1016/j.hoc.2023.04.013. PMID: 37258351
FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer.
Wilde BR, Chakraborty N, Matulionis N, Hernandez S, Ueno D, Gee ME, Esplin ED, Ouyang K, Nykamp K, Shuch B, Christofk HR
Cancer Discov 2023 Sep 6;13(9):2072-2089. doi: 10.1158/2159-8290.CD-22-0874. PMID: 37255402Free PMC Article
Diseases of Hereditary Renal Cell Cancers.
Iliopoulos O
Urol Clin North Am 2023 May;50(2):205-215. doi: 10.1016/j.ucl.2023.01.010. PMID: 36948667
Skin manifestations associated with kidney cancer.
Amin A, Burgess EF
Semin Oncol 2016 Jun;43(3):408-12. Epub 2016 Feb 23 doi: 10.1053/j.seminoncol.2016.02.016. PMID: 27178696

Diagnosis

Advances in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) research.
Ooi A
Semin Cancer Biol 2020 Apr;61:158-166. Epub 2019 Nov 2 doi: 10.1016/j.semcancer.2019.10.016. PMID: 31689495Free PMC Article
Benign Metastasizing Leiomyoma.
Asumu H, Estrin Y, Mohammed TL, Verma N
Curr Probl Diagn Radiol 2017 May-Jun;46(3):257-259. Epub 2016 Jul 28 doi: 10.1067/j.cpradiol.2016.07.002. PMID: 27659239
Benign Metastasizing Leiomyoma.
Pacheco-Rodriguez G, Taveira-DaSilva AM, Moss J
Clin Chest Med 2016 Sep;37(3):589-95. Epub 2016 Jun 25 doi: 10.1016/j.ccm.2016.04.019. PMID: 27514603
Emerging Entities in Renal Neoplasia.
Mehra R, Smith SC, Divatia M, Amin MB
Surg Pathol Clin 2015 Dec;8(4):623-56. doi: 10.1016/j.path.2015.08.004. PMID: 26612218
Intravenous leiomyomatosis.
Grella L, Arnold TE, Kvilekval KH, Giron F
J Vasc Surg 1994 Dec;20(6):987-94. doi: 10.1016/0741-5214(94)90237-2. PMID: 7990195

Therapy

Thoracoscopy-Assisted Esophagectomy for Esophageal Leiomyomatosis.
Agarwal L, Varshney VK, Jabbar S, Selvakumar B, Yadav T, Khera S
J Gastrointest Cancer 2024 Mar;55(1):193-197. Epub 2023 Oct 7 doi: 10.1007/s12029-023-00974-9. PMID: 37803192
Genomic Profiling and Response to Immune Checkpoint Inhibition plus Tyrosine Kinase Inhibition in FH-Deficient Renal Cell Carcinoma.
Xu Y, Kong W, Cao M, Wang J, Wang Z, Zheng L, Wu X, Cheng R, He W, Yang B, Dong B, Pan J, Chen Y, Huang J, Jiang C, Zhai W, Li F, Chen R, Zhou X, Wu G, Geng X, Chen J, An H, Yuan Y, Xu T, Chen D, Lin D, Xu L, Huang K, Peng L, Yu Y, Tai S, Qi H, Luo K, Kang X, Wang H, Huang Y, Zhang J, Xue W
Eur Urol 2023 Feb;83(2):163-172. Epub 2022 Jun 15 doi: 10.1016/j.eururo.2022.05.029. PMID: 35715365
Surgical treatment of fibroids for subfertility.
Metwally M, Raybould G, Cheong YC, Horne AW
Cochrane Database Syst Rev 2020 Jan 29;1(1):CD003857. doi: 10.1002/14651858.CD003857.pub4. PMID: 31995657Free PMC Article
Benign Metastasizing Leiomyoma.
Pacheco-Rodriguez G, Taveira-DaSilva AM, Moss J
Clin Chest Med 2016 Sep;37(3):589-95. Epub 2016 Jun 25 doi: 10.1016/j.ccm.2016.04.019. PMID: 27514603
Skin manifestations associated with kidney cancer.
Amin A, Burgess EF
Semin Oncol 2016 Jun;43(3):408-12. Epub 2016 Feb 23 doi: 10.1053/j.seminoncol.2016.02.016. PMID: 27178696

Prognosis

Benign Metastasizing Leiomyoma.
Asumu H, Estrin Y, Mohammed TL, Verma N
Curr Probl Diagn Radiol 2017 May-Jun;46(3):257-259. Epub 2016 Jul 28 doi: 10.1067/j.cpradiol.2016.07.002. PMID: 27659239
Benign Metastasizing Leiomyoma.
Pacheco-Rodriguez G, Taveira-DaSilva AM, Moss J
Clin Chest Med 2016 Sep;37(3):589-95. Epub 2016 Jun 25 doi: 10.1016/j.ccm.2016.04.019. PMID: 27514603
Emerging Entities in Renal Neoplasia.
Mehra R, Smith SC, Divatia M, Amin MB
Surg Pathol Clin 2015 Dec;8(4):623-56. doi: 10.1016/j.path.2015.08.004. PMID: 26612218
Intravenous leiomyomatosis.
Konrad P, Mellblom L
Acta Obstet Gynecol Scand 1989;68(4):371-6. doi: 10.3109/00016348909028675. PMID: 2618625
Leiomyomatosis peritonealis disseminata.
Hoynck van Papendrecht HP, Gratama S
Eur J Obstet Gynecol Reprod Biol 1983 Jan;14(4):251-9. doi: 10.1016/0028-2243(83)90268-x. PMID: 6339285

Clinical prediction guides

Genomic Profiling and Response to Immune Checkpoint Inhibition plus Tyrosine Kinase Inhibition in FH-Deficient Renal Cell Carcinoma.
Xu Y, Kong W, Cao M, Wang J, Wang Z, Zheng L, Wu X, Cheng R, He W, Yang B, Dong B, Pan J, Chen Y, Huang J, Jiang C, Zhai W, Li F, Chen R, Zhou X, Wu G, Geng X, Chen J, An H, Yuan Y, Xu T, Chen D, Lin D, Xu L, Huang K, Peng L, Yu Y, Tai S, Qi H, Luo K, Kang X, Wang H, Huang Y, Zhang J, Xue W
Eur Urol 2023 Feb;83(2):163-172. Epub 2022 Jun 15 doi: 10.1016/j.eururo.2022.05.029. PMID: 35715365
Major heritable renal cell carcinoma syndromes: novel treatment options and future perspectives.
Naidoo V, Perera M, Adam A
Curr Opin Urol 2022 Sep 1;32(5):488-494. Epub 2022 Jul 18 doi: 10.1097/MOU.0000000000001030. PMID: 35855559
Fumarate hydratase gene germline variants and mosaicism associated with pheochromocytoma and paraganglioma.
Ma X, Cui Y, Gao Y, Zhang X, Nie M, Tong A
Ann N Y Acad Sci 2022 Oct;1516(1):262-270. Epub 2022 Jul 12 doi: 10.1111/nyas.14866. PMID: 35821608
Emerging Entities in Renal Neoplasia.
Mehra R, Smith SC, Divatia M, Amin MB
Surg Pathol Clin 2015 Dec;8(4):623-56. doi: 10.1016/j.path.2015.08.004. PMID: 26612218
Leiomyomatosis peritonealis disseminata.
Hoynck van Papendrecht HP, Gratama S
Eur J Obstet Gynecol Reprod Biol 1983 Jan;14(4):251-9. doi: 10.1016/0028-2243(83)90268-x. PMID: 6339285

Recent systematic reviews

Manifestation and management of intravenous leiomyomatosis: A systematic review of the literature.
Lim WH, Lamaro VP, Sivagnanam V
Surg Oncol 2022 Dec;45:101879. Epub 2022 Oct 17 doi: 10.1016/j.suronc.2022.101879. PMID: 36332557
Surgical treatment of fibroids for subfertility.
Metwally M, Raybould G, Cheong YC, Horne AW
Cochrane Database Syst Rev 2020 Jan 29;1(1):CD003857. doi: 10.1002/14651858.CD003857.pub4. PMID: 31995657Free PMC Article
The Effect of Uterine Fibroids on Infertility: A Systematic Review.
Whynott RM, Vaught KCC, Segars JH
Semin Reprod Med 2017 Nov;35(6):523-532. Epub 2017 Nov 3 doi: 10.1055/s-0037-1607295. PMID: 29100240
The estimated annual cost of uterine leiomyomata in the United States.
Cardozo ER, Clark AD, Banks NK, Henne MB, Stegmann BJ, Segars JH
Am J Obstet Gynecol 2012 Mar;206(3):211.e1-9. Epub 2011 Dec 11 doi: 10.1016/j.ajog.2011.12.002. PMID: 22244472Free PMC Article
Leiomyoma and vascular endothelial growth factor gene polymorphisms: a systematic review.
Chang CC, Hsieh YY, Lin WH, Lin CS
Taiwan J Obstet Gynecol 2010 Sep;49(3):247-53. doi: 10.1016/S1028-4559(10)60056-3. PMID: 21056306

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...