Hereditary leiomyomatosis and acute lymphoblastic leukemia: A link through fumarate dyshydratase mutation?
Acta Clin Belg
; 77(4): 778-781, 2022 Aug.
Article
en En
| MEDLINE
| ID: mdl-34515613
ABSTRACT
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Neoplasias Cutáneas
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Neoplasias Uterinas
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Carcinoma de Células Renales
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Leiomiomatosis
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Leucemia-Linfoma Linfoblástico de Células T Precursoras
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Neoplasias Renales
Límite:
Adult
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Female
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Humans
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Male
Idioma:
En
Revista:
Acta Clin Belg
Año:
2022
Tipo del documento:
Article
País de afiliación:
Bélgica