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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

Treatment Strategies for Hereditary Kidney Cancer: Current Recommendations and Updates.
Singh S, Chaurasia A, Gopal N, Malayeri A, Ball MW
Discov Med 2022 Nov-Dec;34(173):205-220. PMID: 36602871
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

Recent clinical studies

Etiology

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
The 2022 revision of the World Health Organization classification of tumors of the urinary system and male genital organs: advances and challenges.
Mohanty SK, Lobo A, Cheng L
Hum Pathol 2023 Jun;136:123-143. Epub 2022 Sep 6 doi: 10.1016/j.humpath.2022.08.006. PMID: 36084769
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
The 2016 WHO Classification of Tumours of the Urinary System and Male Genital Organs-Part A: Renal, Penile, and Testicular Tumours.
Moch H, Cubilla AL, Humphrey PA, Reuter VE, Ulbright TM
Eur Urol 2016 Jul;70(1):93-105. Epub 2016 Feb 28 doi: 10.1016/j.eururo.2016.02.029. PMID: 26935559

Diagnosis

Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients.
Seo JY, Ahn JY, Keam B, Kim M, Yoon S, Lee JL, Park K, Park I
Ann Lab Med 2021 Mar 1;41(2):207-213. doi: 10.3343/alm.2021.41.2.207. PMID: 33063682Free PMC Article
Surgical Strategy for Intravenous Cardiac Leiomyomatosis.
Deng Y, Dong S, Song B
Heart Lung Circ 2021 Feb;30(2):240-246. Epub 2020 Aug 21 doi: 10.1016/j.hlc.2020.07.006. PMID: 32830033
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
Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review.
Patel VM, Handler MZ, Schwartz RA, Lambert WC
J Am Acad Dermatol 2017 Jul;77(1):149-158. Epub 2017 Mar 14 doi: 10.1016/j.jaad.2017.01.023. PMID: 28314682
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

Therapy

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
Uterine Fibroids: Burden and Unmet Medical Need.
Al-Hendy A, Myers ER, Stewart E
Semin Reprod Med 2017 Nov;35(6):473-480. Epub 2017 Nov 3 doi: 10.1055/s-0037-1607264. PMID: 29100234Free 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

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
Alport Syndrome: A Comprehensive Review on Genetics, Pathophysiology, Histology, Clinical and Therapeutic Perspectives.
Pedrosa AL, Bitencourt L, Paranhos RM, Leitáo CA, Ferreira GC, Simões E Silva AC
Curr Med Chem 2021;28(27):5602-5624. doi: 10.2174/0929867328666210108113500. PMID: 33423643
Surgical Strategy for Intravenous Cardiac Leiomyomatosis.
Deng Y, Dong S, Song B
Heart Lung Circ 2021 Feb;30(2):240-246. Epub 2020 Aug 21 doi: 10.1016/j.hlc.2020.07.006. PMID: 32830033
Genetic predisposition to kidney cancer.
Schmidt LS, Linehan WM
Semin Oncol 2016 Oct;43(5):566-574. Epub 2016 Sep 22 doi: 10.1053/j.seminoncol.2016.09.001. PMID: 27899189Free 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

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
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
Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients.
Seo JY, Ahn JY, Keam B, Kim M, Yoon S, Lee JL, Park K, Park I
Ann Lab Med 2021 Mar 1;41(2):207-213. doi: 10.3343/alm.2021.41.2.207. PMID: 33063682Free PMC Article
Next generation immunohistochemistry: Emerging substitutes to genetic testing?
Andrici J, Gill AJ, Hornick JL
Semin Diagn Pathol 2018 May;35(3):161-169. Epub 2017 Jun 27 doi: 10.1053/j.semdp.2017.05.004. PMID: 28662997
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

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
The role of estrogen deprivation therapy in premenopausal women with primary unresectable intracardiac leiomyomatosis: a systematic review and meta-analysis.
Liang J, Lei R, Xie M, Lin S, Xu J, Ling X, Xie Q
Orphanet J Rare Dis 2021 Oct 29;16(1):453. doi: 10.1186/s13023-021-02087-7. PMID: 34715881Free PMC Article
The Uterine Plexiform Lesions Revisited.
Karpathiou G, Papoudou-Bai A, Clemenson A, Chauleur C, Peoc'h M
Am J Clin Pathol 2020 Jul 7;154(2):178-189. doi: 10.1093/ajcp/aqaa054. PMID: 32459343
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
Parasitic leiomyomas: a systematic review.
Lete I, González J, Ugarte L, Barbadillo N, Lapuente O, Álvarez-Sala J
Eur J Obstet Gynecol Reprod Biol 2016 Aug;203:250-9. Epub 2016 Jun 10 doi: 10.1016/j.ejogrb.2016.05.025. PMID: 27359081

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