Hintzy M-C, Camparo P, Vasiliu V, Peyromaure M, Vieillefond A
Service d'urologie, CHU Cochin-Saint-Vincent-de-Paul, 27, rue du Faubourg-Saint-Jacques, 75014 Paris, France.
Prog Urol. 2008 May;18(5):275-80. doi: 10.1016/j.purol.2008.03.026. Epub 2008 May 19.
The authors present six cases of renal carcinoma associated with MiTF/TFE translocation in young adults. This tumour is one of the newly identified entities of the WHO 2004 classification.
Six patients with MiTF/TFE translocation were identified in a series of 636 adults operated between 2001 and 2005. The diagnosis was based on cytogenetic analysis and immunohistochemistry (IHC) in three patients and IHC alone in the other three patients.
Four women and two men between the ages of 28 and 42 years presented a tumour with a mean diameter of 6 cm (range: 3-15 cm). The TNM classification of these tumours was pT1N0 (n=2), pT2N0 (n=1), pT3aN+M0 (n=1), and pT3aN+M+ (n=2). The mean follow-up was 32 months. One M+ patient died six months after the operation, another two pT3 patients developed metastatic disease and pT1 or pT2 patients were alive without recurrence. The histological features comprised a typical papillary architecture with large eosinophil and/or clear cells. IHC showed TFE3 (n=5) or TFEB (n=1) expression. Cytogenetic analysis demonstrated a t(X;1)(p11.2;p34) or t(X;17)(p11.2;q25) translocation in two patients expressing TFE3 and a t(6;11)(p21; q13) translocation in the patient expressing TFEB.
Renal carcinoma associated with MiTF/TFE translocation can be diagnosed by IHC. However, cytogenetic analysis on fresh or frozen material allows characterization of the translocation and should be performed on all renal tumours in young adults. Prognosis is related to stage. In the future, the diagnosis of more cases of this type of carcinoma will allow more precise definition of the clinicopathological profile and the most appropriate management.
作者报告6例年轻成人中与MiTF/TFE易位相关的肾癌病例。该肿瘤是世界卫生组织2004年分类中新确定的实体之一。
在2001年至2005年接受手术的636例成人患者中，识别出6例MiTF/TFE易位患者。3例患者的诊断基于细胞遗传学分析和免疫组织化学（IHC），另外3例患者仅基于IHC。
4名女性和2名男性，年龄在28至42岁之间，肿瘤平均直径为6 cm（范围：3 - 15 cm）。这些肿瘤的TNM分类为pT1N0（n = 2）、pT2N0（n = 1）、pT3aN + M0（n = 1）和pT3aN + M +（n = 2）。平均随访时间为32个月。1例M +患者术后6个月死亡，另外2例pT3患者发生转移，pT1或pT2患者存活且无复发。组织学特征包括典型的乳头结构，伴有大嗜酸性粒细胞和/或透明细胞。IHC显示TFE3（n = 5）或TFEB（n = 1）表达。细胞遗传学分析显示，2例表达TFE3的患者存在t(X;1)(p11.2;p34)或t(X;17)(p11.2;q25)易位，表达TFEB的患者存在t(6;11)(p21; q13)易位。
与MiTF/TFE易位相关的肾癌可通过IHC诊断。然而，对新鲜或冷冻材料进行细胞遗传学分析可确定易位特征，应对所有年轻成人的肾肿瘤进行该分析。预后与分期相关。未来，更多此类癌病例的诊断将有助于更精确地定义临床病理特征和最合适的治疗方法。
