Hereditary leiomyomatosis and acute lymphoblastic leukemia: A link through fumarate dyshydratase mutation?

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.

KEYWORDS:

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

Disclosure statement

No potential conflict of interest was reported by the authors.