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HEREDITARY LEIOMYOMATOSIS AND ACUTE LYMPHOBLASTIC LEUKEMIA: a LINK THROUGH FUMARATE DYSHYDRATASE MUTATION?

Bailleux, Sophie; SOMJA, Joan; MARTIN, Marie et al.

2022 • In Acta Clinica Belgica, 77, p. 778-781

Peer Reviewed verified by ORBi

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https://hdl.handle.net/2268/263999

DOI
10.1080/17843286.2021.1980669

PubMed
34515613

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Keywords :

Hereditary leiomyomatosis; T-cell acute lymphoblastic leukemia; T-All; fumarate hydratase; mutation

Abstract :

[en] Background: Hereditary leiomyomatosis (HL) is an autosomal dominant condition due to a variety of fumarate hydratase (FH) mutations in which individuals tend to develop cutaneous leiomyomas, multiple uterine leiomyomas and are at risk for developing aggressive papillary renal cell carcinoma. Case presentation: A 26-year-old man with a past history of acute lymphoblastic leukemia (T-ALL) presented with numerous painful light brown papules and nodules spread all over his body except for the head, appearing since infancy. Similar lesions were present in his mother’s family. A cutaneous biopsy revealed a cutaneous leiomyoma. His mother died from metastatic uterine neoplasia and his sister suffered from leiomyoma of the uterus. No renal cancer was reported in his family. A heterozygous pathogenic variant was detected in the FH gene. Conclusion: To our knowledge, this is the first case possibly linking HL and T-ALL through FH deficiency.

Disciplines :

Dermatology

Author, co-author :

Bailleux, Sophie ; Centre Hospitalier Universitaire de Liège - CHU > Autres Services Médicaux > Service de dermatologie

SOMJA, Joan ; Centre Hospitalier Universitaire de Liège - CHU > Unilab > Service d'anatomie et cytologie pathologiques

MARTIN, Marie ; Centre Hospitalier Universitaire de Liège - CHU > Unilab > Consultation Génétique

DE PRIJCK, Bernard ; Centre Hospitalier Universitaire de Liège - CHU > Département de médecine interne > Service d'hématologie clinique

NIKKELS, Arjen ; Centre Hospitalier Universitaire de Liège - CHU > Autres Services Médicaux > Service de dermatologie

Language :

English

Title :

HEREDITARY LEIOMYOMATOSIS AND ACUTE LYMPHOBLASTIC LEUKEMIA: a LINK THROUGH FUMARATE DYSHYDRATASE MUTATION?

Publication date :

2022

Journal title :

Acta Clinica Belgica

ISSN :

1784-3286

eISSN :

2295-3337

Publisher :

Taylor and Francis, Abingdon, United Kingdom

Volume :

77

Pages :

778-781

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 04 October 2021

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