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Hereditary Leiomyomatosis and Renal Cell Cancer
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
A hereditary form of multiple cutaneous leiomyoma (or leiomyomata) was first described from an Italian family by Kloepfer et al. in 1958 [2]. Subsequent study by Reed et al. in 1973 demonstrated the autosomal dominant inheritance of multiple cutaneous leiomyoma (MCL) in association with uterine leiomyoma and/or leiomyosarcoma, justifying the nomination of the disease as Reed syndrome (i.e., multiple cutaneous and uterine leiomyomatosis [MCUL]) [3]. Following the finding of renal cell carcinoma with papillary architecture in Reed syndrome patients by Launonen et al. and Kiuru et al. in 2001, the name “hereditary leiomyomatosis renal cell cancer/carcinoma (HLRCC)” was adopted [4,5]. The mapping of the culprit gene to chromosome 1q42.1 in 2001 and identification of the FH gene in 2002 have helped uncover the underlying cause of HLRCC [6].
Hereditary leiomyomatosis and acute lymphoblastic leukemia: A link through fumarate dyshydratase mutation?
Published in Acta Clinica Belgica, 2022
Sophie Bailleux, Joan Somja, Marie Martin, Bernard De Prijck, Arjen F. Nikkels
Hereditary leiomyomatosis (HL) (Orpha number 523, Reed’s syndrome), is an autosomal dominant condition due to mutations in fumarate hydratase (FH), a tumor suppressor gene, localized on chromosome 1q [1,2]. More than 30 different germline mutations have been described including missenses, frameshifts, nonsenses, deletions/insertions, splice site and complete deletion [3,4]. Sporadic cases are rare [5,6]. Inactivation of the FH enzyme involves a malfunction of the tricarboxylic acid (TCA) (Krebs) cycle which manifests clinically with multiple cutaneous leiomyomas (CLM), uterine leiomyomas as well as an aggressive form of papillary type II renal cell cancer [2,7].