Collardeau-Frachon Sophie, Ranchère-Vince Dominique, Delattre Olivier, Hoarau Stelly, Thiesse Philippe, Dubois Rémi, Bergeron Christophe, Dijoud Frédérique, Bouvier Raymonde
Service d'Anatomie Pathologique, Hôpital Edouard Herriot, Lyon, France.
Pediatr Dev Pathol. 2007 Jul-Aug;10(4):320-4. doi: 10.2350/06-10-0177.1.
We report a case of desmoplastic small round cell tumor (DSRCT) arising in the kidney of a 14-year-old female. The subject presented with gross hematuria. Medical imaging uncovered a left renal mass without regional or metastatic extension. The tumor showed morphological, immunohistochemical, and molecular features of DSRCT. Immunostaining revealed polyphenotypic differentiation. Molecular analysis detected the fusion transcript resulting from the t(11;22)(p13;q12) reciprocal translocation, which characterized this neoplasm. Desmoplastic small round cell tumor is a rare, aggressive neoplasm that mainly affects young males and that usually presents with widespread abdominal serosal involvement. This unusual localization should lead one to consider this tumor in the differential diagnosis of small blue round cell tumors of the kidney.
我们报告一例发生于一名14岁女性肾脏的促结缔组织增生性小圆细胞肿瘤（DSRCT）。该患者表现为肉眼血尿。医学影像检查发现左肾肿物，无区域或远处转移。肿瘤呈现出DSRCT的形态学、免疫组化及分子特征。免疫染色显示多表型分化。分子分析检测到由t(11;22)(p13;q12)相互易位产生的融合转录本，这是该肿瘤的特征。促结缔组织增生性小圆细胞肿瘤是一种罕见的侵袭性肿瘤，主要影响年轻男性，通常表现为广泛的腹部浆膜受累。这种不寻常的定位应使人们在肾小蓝圆细胞肿瘤的鉴别诊断中考虑到该肿瘤。
