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Diffuse Leiomyomatosis Syndrome

MedGen UID:
307453
•Concept ID:
C1511954
•
Disease or Syndrome

Definition

A syndrome characterized by multiple, benign nodular smooth muscle neoplasms of the esophagus, tracheobronchial tree and the genitourinary tract. Clinical signs include dysphagia with retrosternal pain, dyspnea and genital hypertrophy. There is a strong association with Alport Syndrome in patients with deletions in the type IV collagen alpha chain genes COL4A5 and COL4A6. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDiffuse Leiomyomatosis Syndrome

Professional guidelines

PubMed

Fumarate hydratase deficient renal cell carcinoma and fumarate hydratase deficient-like renal cell carcinoma: Morphologic comparative study of 23 genetically tested cases.
Pivovarčíková K, Martínek P, Trpkov K, Alaghehbandan R, Magi-Galluzzi C, Mundo EC, Berney D, Suster S, Gill A, Rychlý B, Michalová K, Pitra T, Hora M, Michal M, Hes O
Cesk Patol 2019 Fall;55(4):244-249. PMID: 31842557

Recent clinical studies

Etiology

Role of ultra-high b-value DWI in the imaging of hereditary leiomyomatosis and renal cell carcinoma (HLRCC).
Chaurasia A, Gopal N, Dehghani Firouzabadi F, Yazdian Anari P, Wakim P, Ball MW, Jones EC, Turkbey B, Huda F, Linehan WM, Turkbey EB, Malayeri AA
Abdom Radiol (NY) 2023 Jan;48(1):340-349. Epub 2022 Oct 7 doi: 10.1007/s00261-022-03689-w. PMID: 36207629Free PMC Article
Imaging features of fumarate hydratase-deficient renal cell carcinomas: a retrospective study.
Nikolovski I, Carlo MI, Chen YB, Vargas HA
Cancer Imaging 2021 Feb 19;21(1):24. doi: 10.1186/s40644-021-00392-9. PMID: 33608050Free PMC Article
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome: Spectrum of imaging findings.
Paschall AK, Nikpanah M, Farhadi F, Jones EC, Wakim PG, Dwyer AJ, Gautam R, Merino MJ, Srinivasan R, Linehan WM, Malayeri AA
Clin Imaging 2020 Dec;68:14-19. Epub 2020 Jun 9 doi: 10.1016/j.clinimag.2020.06.010. PMID: 32562921Free PMC Article
Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry.
Chen YB, Brannon AR, Toubaji A, Dudas ME, Won HH, Al-Ahmadie HA, Fine SW, Gopalan A, Frizzell N, Voss MH, Russo P, Berger MF, Tickoo SK, Reuter VE
Am J Surg Pathol 2014 May;38(5):627-37. doi: 10.1097/PAS.0000000000000163. PMID: 24441663Free PMC Article
Hereditary esophageal-vulvar syndrome.
Hoelscher AC, Hoelscher AH, Drebber U, Bludau M, Schroeder W
Ann Thorac Surg 2012 Sep;94(3):e65-7. doi: 10.1016/j.athoracsur.2012.02.078. PMID: 22916782

Diagnosis

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome: Spectrum of imaging findings.
Paschall AK, Nikpanah M, Farhadi F, Jones EC, Wakim PG, Dwyer AJ, Gautam R, Merino MJ, Srinivasan R, Linehan WM, Malayeri AA
Clin Imaging 2020 Dec;68:14-19. Epub 2020 Jun 9 doi: 10.1016/j.clinimag.2020.06.010. PMID: 32562921Free PMC Article
Diffuse Esophageal Leiomyomatosis in Pediatric Patients: A Systematic Review and Quality of Evidence Assessment.
Ziogas IA, Mylonas KS, Tsoulfas G, Spartalis E, Zavras N, Nikiteas N, Schizas D
Eur J Pediatr Surg 2019 Dec;29(6):487-494. Epub 2018 Dec 21 doi: 10.1055/s-0038-1676507. PMID: 30577043
Hereditary esophageal-vulvar syndrome.
Hoelscher AC, Hoelscher AH, Drebber U, Bludau M, Schroeder W
Ann Thorac Surg 2012 Sep;94(3):e65-7. doi: 10.1016/j.athoracsur.2012.02.078. PMID: 22916782
Alport syndrome with diffuse leiomyomatosis.
Anker MC, Arnemann J, Neumann K, Ahrens P, Schmidt H, König R
Am J Med Genet A 2003 Jun 15;119A(3):381-5. doi: 10.1002/ajmg.a.20019. PMID: 12784310
Clinical and molecular diagnosis of Alport syndrome.
Kashtan CE
Proc Assoc Am Physicians 1995 Oct;107(3):306-13. PMID: 8608415

Therapy

Fumarate Hydratase-Deficient Leiomyoma of the Uterine Corpus: Comparative Morphologic Analysis of Protein-Deficient Tumors With and Without Pathogenic Germline Fumarate Hydratase Gene Mutations.
Shi W, Liu Y, Aisagbonhi O, Roma AA, Hasteh F, Zare SY, Fadare O
Int J Surg Pathol 2024 Apr;32(2):340-355. Epub 2023 Jun 13 doi: 10.1177/10668969231180285. PMID: 37312573
Comprehensive management of diffuse leiomyomatosis in a patient with Alport syndrome.
Burgos R, Muñiz E, Rosa ER, Olivares CJ, Romaguera J
P R Health Sci J 2013 Dec;32(4):200-2. PMID: 24397218

Prognosis

The use of Clinicopathological, immunohistochemistry and molecular detection in the diagnosis of fumarate hydratase-deficient uterine leiomyomas.
Zhang X, Wang C, Shen D
Pathol Res Pract 2024 Jan;253:154916. Epub 2023 Nov 4 doi: 10.1016/j.prp.2023.154916. PMID: 38029712
Alport-leiomyomatosis syndrome requiring subtotal esophagectomy for refractory gastroesophageal reflux disease after childhood partial esophagogastrectomy: a case report.
Aoyama J, Miyawaki Y, Kato T, Fujiwara N, Sugita H, Sato H, Yasuda M, Sakuramoto S, Yamaguchi S
Gen Thorac Cardiovasc Surg 2020 Feb;68(2):199-203. Epub 2019 Nov 22 doi: 10.1007/s11748-019-01255-8. PMID: 31758390
Comprehensive management of diffuse leiomyomatosis in a patient with Alport syndrome.
Burgos R, Muñiz E, Rosa ER, Olivares CJ, Romaguera J
P R Health Sci J 2013 Dec;32(4):200-2. PMID: 24397218
Hereditary esophageal-vulvar syndrome.
Hoelscher AC, Hoelscher AH, Drebber U, Bludau M, Schroeder W
Ann Thorac Surg 2012 Sep;94(3):e65-7. doi: 10.1016/j.athoracsur.2012.02.078. PMID: 22916782
Alport syndrome with diffuse leiomyomatosis.
Anker MC, Arnemann J, Neumann K, Ahrens P, Schmidt H, König R
Am J Med Genet A 2003 Jun 15;119A(3):381-5. doi: 10.1002/ajmg.a.20019. PMID: 12784310

Clinical prediction guides

Detailed Morphologic and Immunohistochemical Characterization of Myomectomy and Hysterectomy Specimens From Women With Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC).
Chan E, Rabban JT, Mak J, Zaloudek C, Garg K
Am J Surg Pathol 2019 Sep;43(9):1170-1179. doi: 10.1097/PAS.0000000000001293. PMID: 31162287
Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.
Sá MJ, Fieremans N, de Brouwer AP, Sousa R, e Costa FT, Brito MJ, Carvalho F, Rodrigues M, de Sousa FT, Felgueiras J, Neves F, Carvalho A, Ramos U, Vizcaíno JR, Alves S, Carvalho F, Froyen G, Oliveira JP
J Med Genet 2013 Nov;50(11):745-53. Epub 2013 Aug 19 doi: 10.1136/jmedgenet-2013-101670. PMID: 23958657
Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature.
Badeloe S, van Geel M, van Steensel MA, Bastida J, Ferrando J, Steijlen PM, Frank J, Poblete-Gutiérrez P
Exp Dermatol 2006 Sep;15(9):735-41. doi: 10.1111/j.1600-0625.2006.00470.x. PMID: 16881969
Alport syndrome with diffuse leiomyomatosis.
Anker MC, Arnemann J, Neumann K, Ahrens P, Schmidt H, König R
Am J Med Genet A 2003 Jun 15;119A(3):381-5. doi: 10.1002/ajmg.a.20019. PMID: 12784310
Organization and expression of basement membrane collagen IV genes and their roles in human disorders.
Sado Y, Kagawa M, Naito I, Ueki Y, Seki T, Momota R, Oohashi T, Ninomiya Y
J Biochem 1998 May;123(5):767-76. doi: 10.1093/oxfordjournals.jbchem.a022003. PMID: 9562604

Recent systematic reviews

Diffuse Esophageal Leiomyomatosis in Pediatric Patients: A Systematic Review and Quality of Evidence Assessment.
Ziogas IA, Mylonas KS, Tsoulfas G, Spartalis E, Zavras N, Nikiteas N, Schizas D
Eur J Pediatr Surg 2019 Dec;29(6):487-494. Epub 2018 Dec 21 doi: 10.1055/s-0038-1676507. PMID: 30577043

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