PMC9162506_01
A diagnosis of BDH syndrome was confirmed in the patient. (A) Abdominal magnetic resonance imaging (MRI) revealed a renal mass in the lower middle part of the left kidney (arrow). (B) MRI with intravenous contrast revealed a renal mass in the posterolateral surface of the left kidney (arrow). (C) Histopathology of the small tumor in the left kidney shows cells with classic plant-like architecture, perinuclear clearing (chromophobe cell carcinoma). (D) Germline mutation: base C duplication at nucleotide c.1285dupC in exon 11 (c.1285dupC) of the FLCN gene. (E) Somatic mutation: a base T deletion at nucleotide c.470 in exon 6 (c.470delT) of the FLCN gene. (F) Pedigree summarizing the family history of the proband (arrowhead). Different symbols indicate different diseases.
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A 36-year-old woman underwent ultrasonography and magnetic resonance imaging, which revealed multiple, asymptomatic renal tumors (Figures 1A, B). II, and that the small (1.0 cm x 1.0 cm x 0.6 cm) tumor in the left kidney was chromophobe RCC, nuclear grade WHO/ISUP II (Figure 1C). In summary, the patient's TNM stage was T1aN0M0, stage I. A search for germline mutations revealed a single nucleotide frameshift duplication, c.1285dupC, within the polycytosine tract located in exon 11, resulting in a change in amino acid 429 from histidine to proline (p.H429fs) in the FLCN product (Figure 1D). A search for somatic mutations revealed a base (T) deletion at nucleotide c.470 in exon 6 (c.470delT) of the FLCN gene (Figure 1E), which caused a frameshift mutation starting at amino acid 157 (p.F157fs). There was a history of benign tumor of the cardia on the father's side, and her grandfather had died of silicosis (Figure 1F).