Hereditary leiomyomatosis and renal cell cancer: a case report

Abstract

This article presents a case report of hereditary leiomyomatosis and renal cell cancer (HLRCC) with new mutation in a 25-year-old female patient admitted to the clinic for diagnosis and treatment due to multiple skin and uterus leiomyomas. The patient has a history of surgery to remove adrenal pheochromocytoma and papillary kidney cancer. Clinical and laboratory examination as well as medical genetic counseling of the patient were performed. We have detected the heterozygous c.395_399del (p.L132*) germline nonsense mutation in exon 4 of the FH gene using polymerase chain reaction/Sanger sequencing of exons 1–10 of this gene and confirmed the diagnosis of HLRCC. The mutation c.395_399del in a patient with HLRCC was described for the first time. The identical mutation was also found in the mother and sister of the patient. Based on the obtained results, medical genetic counseling was carried out in this family, recommendations were given for further oncological monitoring. The case report could be useful for geneticists, oncologists and other specialists to interpretate the clinical heterogeneity of HLRCC and improve the genetic diagnosis of this rare hereditary oncological syndrome.