Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Original Publication: [London] : BioMed Central, 2006-

Carcinoma, Renal Cell*/genetics ; Carcinoma, Renal Cell*/surgery ; Kidney Neoplasms*/genetics ; Leiomyomatosis*/genetics ; Leiomyomatosis*/surgery ; Neoplastic Syndromes, Hereditary*/genetics ; Skin Neoplasms*/diagnosis ; Skin Neoplasms*/genetics; Adolescent ; Adult ; Child ; Female ; Fumarate Hydratase ; Humans ; Young Adult

Background: Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genodermatosis characterized by cutaneous leiomyoma (CLM), uterine leiomyoma (ULM) and renal cell carcinoma (RCC). Five HLRCC patients are presented with a compiled database of published HLRCC cases to increase understanding of HLRCC. Furthermore, a surveillance program is suggested. Our review is based on a PubMed search which retrieved case reports and cohort studies published before November 2019. The search yielded 97 original papers with a total of 672 HLRCC patients.
Results: CLMs were present in 474 patients (71.5%), developed at the mean age of 28 years. Five patients had cutaneous leiomyosarcomas. ULMs were present in 356 women (83%), while two had uterine leiomyosarcoma. ULMs were diagnosed at a mean age of 32 years, with the youngest diagnosed at age 17 years. The most common surgical treatment for ULMs was hysterectomy, performed at a mean age of 35 years, with the youngest patient being 19 years old. RCCs were present in 189 patients (34.9%), of which half had metastatic disease. The mean age of diagnosis was 36 years with the youngest patient diagnosed with RCC at the age of 11 years.
Conclusion: We suggest a surveillance program for HLRCC including a dermatological examination once every 2 years, annual magnetic resonance imaging starting at the age of 10 years to monitor for early RCCs, annual gynecological examinations from the age of 15 years and counseling regarding risk of hysterectomy and family planning at the age of 18 years. CLMs are often the earliest manifestation of HLRCC, which is why recognizing these lesions, performing a biopsy, and making a prompt referral to genetic counseling is important in order to diagnose HLRCC early.

J Clin Endocrinol Metab. 2014 Oct;99(10):E2046-50. (PMID: 25004247)
Am J Obstet Gynecol. 2018 Dec;219(6):591.e1-591.e8. (PMID: 30291840)
J Am Acad Dermatol. 2017 Jul;77(1):149-158. (PMID: 28314682)
Eur J Obstet Gynecol Reprod Biol. 2017 Jan;208:97-102. (PMID: 27914240)
Acta Derm Venereol. 2020 Jan 7;100(1):adv00012. (PMID: 31663596)
Can Urol Assoc J. 2008 Dec;2(6):610-7. (PMID: 19066680)
Arch Dermatol. 2005 Feb;141(2):199-206. (PMID: 15724016)
J Med Genet. 2006 Jan;43(1):18-27. (PMID: 15937070)
J Med Genet. 2019 Aug;56(8):513-520. (PMID: 30877234)
Fam Cancer. 2014 Dec;13(4):637-44. (PMID: 25012257)
Fam Cancer. 2011 Jun;10(2):397-411. (PMID: 21404119)
Hum Pathol. 2018 Jan;71:47-54. (PMID: 29079178)
Clin Med (Lond). 2017 Dec;17(6):562-567. (PMID: 29196359)
J Pathol. 2011 Sep;225(1):4-11. (PMID: 21630274)
Am J Hum Genet. 2003 Jul;73(1):95-106. (PMID: 12772087)
Fam Cancer. 2018 Oct;17(4):615-620. (PMID: 29423582)
Genes Chromosomes Cancer. 2017 Jun;56(6):484-492. (PMID: 28196407)
Fam Cancer. 2020 Jan;19(1):55-63. (PMID: 31792767)
Dermatology. 2016;232(3):293-7. (PMID: 27161211)
Int J Nephrol Renovasc Dis. 2014 Jun 20;7:253-60. (PMID: 25018647)
Dtsch Arztebl Int. 2016 Sep 5;113(35-36):590-6. (PMID: 27658472)
Clin Genet. 2011 Jan;79(1):49-59. (PMID: 20618355)
J Med Genet. 2011 Apr;48(4):226-34. (PMID: 21398687)

Keywords: HLRCC; Hereditary leiomyomatosis and renal cell carcinoma; Surveillance program

EC 4.2.1.2 (Fumarate Hydratase)

Date Created: 20210119 Date Completed: 20210618 Latest Revision: 20210618

20250114

PMC7814596

10.1186/s13023-020-01653-9

33461594