Non-functional bladder paraganglioma in a patient with complex hematological disorders: case report

Abstract

Abstract Background Although bladder cancer is quite a common cancer, most common encounter being transitional cell carcinomas, paragangliomas with such localization, is a very rare histopathological finding. In addition, hematuria in a patient with a theoretically "hypercoagulable" condition is uncommon; in our case it was the single symptom. Case presentation We report the case of a 44-year-old female referred to our hospital for gross hematuria. The CT scan revealed an intraluminal enhancing bladder mass. Also, the XIII coagulation factor level was 36% and surprisingly genetic mutations suggesting inherited thrombophilia were found: MTHFR C677T negative, A1298C positive and PAI-1 gene polymorphism (675 4G/5G). The hematologist recommended folic acid 5 mgs daily. A TURBT was performed (macroscopically no residual tumor tissue). The immunohistochemical examination revealed tumor cells intensely positive to chromogranin and synaptophysin, negative for cytokeratin AE1/3, p63, 7, 20 or CDX2, and slight (less than 5%) positive for Ki-67. The combined examinations correspond to a bladder paraganglioma. Six months after surgery, the patient had no clinical symptoms and no relapse sonographically and cystoscopically. Conclusions Although a very rare entity, bladder paraganglioma should be suspected in patients with hematuria and unexplained hyperadrenalism symptoms such as hypertension, serious dizziness, headache or palpitation. The immunohistochemical examination is important not only for diagnosis but also for identifying the functionality of the tumors. In such cases the therapeutic management could be different as in transitional cell carcinomas.