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.

Ferroptosis: a promising target for fumarate hydratase-deficient tumor therapeutics literature review

“…In most cases, women with HLRCC syndrome present with ULMs, a dominant genetic disorder ( 101 ), associated with atypical pathological characteristics ( 102 ). In women of childbearing age, uterine-like mass is the most common benign tumor ( 103 ).…”