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    1. A 42-year-old man came to the emergency department with progressive dyspnea on exertion for 1 month. His medical conditions included type 1 diabetes mellitus (DM), age onset of 25 years old. The chest X-ray revealed a left homogeneous density compatible with pleural effusion. Thoracocentesis was subsequently performed and pleural fluid profile was consistent with metastatic effusion. Computed tomography of the chest and abdomen showed multiple bilateral pulmonary nodules accompanied with significant left pleural effusion and mediastinal lymphadenopathy. A 7.6-cm left renal mass (large arrow) with invasion to the left renal vein and a few small hypodense cysts at the right kidney were also showed along with a 3.4-cm cystic mass at the pancreatic head (small arrow) and diffuse pancreatic cysts with calcification (asterisk) (Figure A). Clear cell renal cell carcinoma was confirmed by renal biopsy. He received palliative treatment with pazopanib. After a meticulous review, he had a history of bilateral scrotal masses that had been diagnosed as benign cysts and underwent cyst removal. Review of ultrasonography of the right testis showed a thick wall cyst with papillary projection (asterisk) and some calcifications (Figure B). In addition, a solid mass with multiple tiny cysts resembling ductal ectasia of the rete testis was also found (Figure B). The similar sonographic findings were found at the left testis.

      PatientID: N/A

      KindredID: 1

      Case: M, 42Y0M, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: Family history revealed an intracranial tumor in his brother, father, and grandfather.

      CasePresentingHPOs: HP:0006770; HP:0009715 (Clear cell renal cell carcinoma; Papillary cystadenoma of the epididymis)

      CaseHPOFreeText: Patient came to the emergency department at 42Y0M with progressive dyspnea on exertion for 1 month. X-ray revealed pleural effusion, thus thoracocentesis was performed. CT scan revealed a mass consistent with clear cell renal cell carcinoma, confirmed by a renal biopsy. He received palliative treatment with pazopanib. He previously had bilateral scrotal masses that were identified as benign cysts and surgically removed. Ultrasonogrophy of both testes revealed bilateral papillary cystadenomas of the epididymis (PCEs). Patient was previously diagnosed with diabetes mellitus (DM) at age 25. It was noted that the cause of insulin-dependent DM may be from chronic pancreatitis, rather than type 1 DM.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88* (c.263G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182978, https://www.ncbi.nlm.nih.gov/clinvar/variation/182978/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: W88* (c.263G>A)

      MultipleGeneVariants: N/A