Home > D. Systemic pathology > Genetic and developmental anomalies > hereditary leiomyomatosis and renal cell cancer syndrome

hereditary leiomyomatosis and renal cell cancer syndrome

MIM.605839

Wednesday 24 September 2003

Definition: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder characterized by smooth-muscle tumors of the skin and uterus and/or renal cell carcinoma. The mutation of this condition has been identified in the fumarate hydratase (FH, 1q42.3-q43) gene.

Synopsis

- renal cell carcinoma (17895761)

  • mostly unilateral
  • size of the tumors between 2.3 and 20 cm
  • no laterality preference
  • architectural patterns
    • papillary
    • tubulo-papillary
    • tubular
    • solid
    • mixed patterns
  • characteristic large nucleus with a very prominent inclusion like orangiophilic or eosinophilic nucleolus, surrounded by a clear halo
  • loss of heterozygosity: 1q32 LOH and 1q42-44 LOH
  • poor prognosis
  • frequent spread to regional lymph nodes

- uterine leiomyomas (21753700)

Etiology

- mutations in the fumarate hydratase gene (FH) (MIM.136850) cause hereditary leiomyomatosis and renal cell cancer in families in North America (12772087)

Reviews

- Kiuru M, Launonen V. Hereditary leiomyomatosis and renal cell cancer (HLRCC). Curr Mol Med. 2004 Dec;4(8):869-75. PMID: 15579034

References

- Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. Gardie B, Remenieras A, Kattygnarath D, Bombled J, Lefèvre S, Perrier-Trudova V, Rustin P, Barrois M, Slama A, Avril MF, Bessis D, Caron O, Caux F, Collignon P, Coupier I, Cremin C, Dollfus H, Dugast C, Escudier B, Faivre L, Field M, Gilbert-Dussardier B, Janin N, Leport Y, Leroux D, Lipsker D, Malthieu F, McGilliwray B, Maugard C, Méjean A, Mortemousque I, Plessis G, Poppe B, Pruvost-Balland C, Rooker S, Roume J, Soufir N, Steinraths M, Tan MH, Théodore C, Thomas L, Vabres P, Van Glabeke E, Meric JB, Verkarre V, Lenoir G, Joulin V, Deveaux S, Cusin V, Feunteun J, Teh BT, Bressac-de Paillerets B, Richard S; French National Cancer Institute "Inherited predisposition to kidney cancer" network. J Med Genet. 2011 Apr;48(4):226-34. Epub 2011 Mar 12. Erratum in: J Med Genet. 2011 Aug;48(8):576. PMID: 21398687

- Morphologic features of uterine leiomyomas associated with hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report. Garg K, Tickoo SK, Soslow RA, Reuter VE. Am J Surg Pathol. 2011 Aug;35(8):1235-7. PMID: 21753700

- Merino MJ, Torres-Cabala C, Pinto P, Marston Linehan W. The Morphologic Spectrum of Kidney Tumors in Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) Syndrome. Am J Surg Pathol. 2007 Oct;31(10):1578-1585. PMID: 17895761