Leiomyomatosis in an Infant With a SUFU Splice Site Variant: Case Report

J Pediatr Hematol Oncol. 2022 Jul 1;44(5):e914-e917. doi: 10.1097/MPH.0000000000002454. Epub 2022 Apr 4.


Heterozygous loss-of-function variants in the suppressor of fused protein gene (SUFU) can result in Gorlin syndrome, which is characterized by an increased frequency of basal cell carcinoma, medulloblastoma, odontogenic keratocysts, as well as other tumors. We describe a case of a 5-month-old female who presented with multiple intra-abdominal leiomyomata and was found to have a likely pathogenic splice site variant in the SUFU gene. This is the first reported case of leiomyomatosis secondary to a pathogenic SUFU variant in an infant and may represent an early, atypical presentation of Gorlin syndrome.

Publication types

  • Case Reports

MeSH terms

  • Basal Cell Nevus Syndrome*
  • Cerebellar Neoplasms* / pathology
  • Female
  • Humans
  • Infant
  • Leiomyomatosis* / complications
  • Leiomyomatosis* / genetics
  • Medulloblastoma* / pathology
  • Repressor Proteins / genetics


  • Repressor Proteins
  • SUFU protein, human