唐氏症病患的隱睪症之巨大精原细胞瘤 ─ 案例報告
許自翔1、林子平1,2,3、張延驊1,2,3、林登龍1,2,3、陳光國1,2,3
1臺北榮民總醫院 泌尿部；2國立陽明大學 醫學院 泌尿學科；3書田泌尿科學研究中心
Large seminoma from an undesended testis in a down syndrome patient- a case report
Tzu-Hsiang Hsu1, Tzu-Ping Lin1,2,3, Yen-Hwa Chang1,2,3, Alex T.L. Lin1,2,3, Kuang-Kuo Chen1,2,3
1Department of Urology, Taipei Veterans General Hospital, Taipei, Taiwan
2Department of Urology, School of Medicine, and 3Shu-Tien Urological Science Research Center, National Yang-Ming University
Introduction:
The risk of testicular malignancy increased 4 to 6 times in man with cryptorchidism. Higher testis intraabdominal location is associated with higher risk. The associated risk with affected gonad decreased if orchidopexy is performed before puberty. Down syndrome is reported to be susceptible to neoplastic transformation. However, the real incidence of the germ cell tumor in Down syndrome is scarce.
Case report:
A 46-year-old man with Down syndrome, Hepatitis B virus carrier, arrhythmia and right middle cerebral artery territory infarction presented to the emergency department because of the palpable abdominal mass. He had lost 8 kg of weight in the past 3 months. On physical examination, a firm, non-movable mass at right lower quadrant to inguinal region with mild tenderness was noted and the right testis could not be palpated in the scrotum. Computed tomographic (CT) scan disclosed a lobulated mass (17.6 cm by 10.3 cm by 7.5 cm) with cystic component and small calcifications arising from right inguinal canal, extending to right lower abdomen with close contact with right psoas muscle. No identified lung metastasis was noted. He was then admitted to medical oncology’s ward for further survey. Serum level of alpha-fetoprotein (AFP) was normal. The serum lactate dehydrogenase (LDH) level was slightly elevated at 336 U/L and β-hCG was elevated to 45.21x103IU/mL. Ultrasonically-guided needle biopsy failed because of patient’s non-cooperation. He was then referred to urologist for operation. Surgical resection of retroperitoneal tumor and right pelvic lymph nodes dissection were performed. Perioperative placement of ureteral stent was done for protection of ureter. The estimated blood loss was 100 ml and no immediate complication was noted during operation. Pathological examination of the resection specimen revealed the diagnosis of seminoma with lymphovascular invasion. The surgical margin was free of tumor and lymph nodes showed no metastasis. The pathologic stage was T2N0M0, stage Ib. The patient had an uneventful postoperative course and was discharged 11 days after surgery. His serum β-hCG level decreased to normal range 3 months post-operatively but the CT scan disclosed recurrent tumor over right pelvic cavity and metastatic lymphoadenopathy over aortocaval and rectalvesical pouch. He underwent 3 courses of chemotherapy with Bleomycin, etoposide and cisplatinum (BEP) without major adverse events. Currently, results of follow-up studies were consistent with near complete remission.
Conclusion:
Down syndrome is often associated with cryptorchidism and increased risk of testicular tumor. However, patients with Down syndrome may not be aware of symptoms or perform self-examination. The delayed diagnosis and treatment of cryptorchidism result in higher risk of testicular germ cell tumor. The importance of testicular palpation for this population should be emphasized at neonatal and routine physical examination.