Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report

Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome in a young patient presenting with a large uterus: A case report and review of the literature

“…A total of 5 cases with HLRCC were found in the literature and these are summarized in Table 1 , which gives the patients' chief complaint, timing of hysterectomy or myomectomy, the clinical manifestation of HLRCC and the methods to confirm HLRCC. The first four patients (cases 1–4) underwent either hysterectomy or myomectomy and HLRCC was confirmed later by genetic testing [ 1 , 3 , 4 , 11 ]. These patients came back months or years later with other clinical manifestations of HLRCC and further workup helped confirmed the condition by histopathology and genetics.…”

“…[ 3 ] 41-year-old female with hematuria and right lumbar pain Hysterectomy at 38-years-old due to large symptomatic myoma Piloleiomyomas Renal tumors on right kidney Genetics of FH locus after nephrectomy and cutaneous lesions 2020, Yonamine T & al. [ 11 ] 42-year-old female with abdominal pain Myomectomy at 32-years-old due to pain and anemia Renal cyst-tumor Multiple uterine myomas Genetics of FH locus after open nephrectomy confirming type 2 papillary RCC and total hysterectomy 2020, Popa L. & al. [ 1 ] 62-year-old female with multiple cutaneous coloured and nodular lesions Multiple myomectomies before 30-years-old and total hysterectomy (not specified) Cutaneous leiomyomas Renal cyst Histopathology from skin biopsy with personal and family history 2018, Natalia F & al.…”

Germline Whole-Gene Deletion of FH Diagnosed from Tumor Profiling

“…Several previously reported Japanese families with HLRCC exhibited different pathogenic variants, including missense variants and a splice site variant that had not been reported in Caucasian families [ 18 , 19 , 20 , 21 , 22 , 23 ]. To the best of our knowledge, ours is the first report of a whole-gene FH deletion in Japan.…”