fumarates and Precursor-T-Cell-Lymphoblastic-Leukemia-Lymphoma

: 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.. : 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.. : To our knowledge, this is the first case possibly linking HL and T-ALL through FH deficiency.

Topics: Adult; Carcinoma, Renal Cell; Female; Fumarates; Genetic Predisposition to Disease; Humans; Kidney Neoplasms; Leiomyomatosis; Male; Mutation; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Skin Neoplasms; Uterine Neoplasms