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Objective To summarize the clinical characteristics, diagnosis and endoscopic treatment of urethral hemangioma. Methods We retrospectively collected the clinical data of 34 patients with urethral hemangioma admitted in our hospital between May, 2014 and December, 2018. The etiological diagnosis and endoscopic surgery data were analyzed in these cases, and the patients were followed up to assess the treatment efficacy and complications. Results The 34 patients had a mean age of 44.7±10.3 years (range 18-61 years) with a disease course ranging from 1 month to 20 years (median 24 months). The main symptom was hematospermia with postcoital hematuria and occasional blood clots in the urine. All the patients underwent urethrocystoscopy, which revealed posterior urethral hemangioma (PUH) or abnormal varicose vessels in 33 cases, and anterior urethral hemangioma in 1 case. The typical findings in urethrocystoscopy included hemorrhagic lesions of dark red hemangioma-like mass measuring (0.5-0.8 cm)×1.0 cm, located 0.5-1.0 cm distal to the verumontanum. Among these patients, 18 underwent transurethral resection of the urethral hemangioma, and pathological examination reported cavernous hemangioma in 15 cases, vascular hemangioma in 1 case, and unclassified hemangioma in 2 cases; the other 16 patients underwent electrocautery and no pathological specimens were obtained. During the postoperative follow-up for 1-56 months (median 17 months), the symptoms disappeared in 32 patients; relapse occurred at 2 and 3 months after the operation in 2 patients, and the symptoms were resolved after further transurethral electrocauterization. Except for one patient who developed acute epididymitis early after the operation, none of the patients experienced complications related to the operation. Conclusion Posterior urethral hemangioma is mainly characterized by repeated or persistent hematospermia with post-ejaculation hematuria. Urethrocystoscopy combined with seminal vesicle massage can confirm the bleeding of the seminal duct for a definite diagnosis. Transurethral resection or electrocauterization is safe, effective and minimally invasive for treatment of posterior urethral hemangioma.

In this study, we report here a rare case of polycythemia and cRCC in the same patient, which may be helpful in understanding clinical features and molecular mechanisms underlying VHL–mutation-associated cRCC and polycythemia induced by germline mutation of HIF2A. Firstly, we identified a rare but well studied germline mutation resulting in polycythemia in HIF2A (c.1609G>A, p.Gly537Trp) in the blood of the patient and his daughter. Meanwhile, we identified an inactivating VHL mutation (c.391A>T, p.N131Y), as well as TP53 mutation(c.977A>T, p.E326V) and mTOR mutation(c.7498A>T, p.I2500F) in renal cancer tissue. Moreover, protein levels of VHL, HIF1A, HIF2A, EPO, and VEGF estimated by immunohistochemical staining substantiated hyperactivation of the oxygen-sensing pathway. In addition, we identified 158 somatic SNP/indel mutations, including 90 missense/nonsense/splice/stop-loss mutations by whole-exome sequencing (WES) of the tumor specimen and matched normal DNA. [ABSTRACT FROM PUBLISHER]