Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
Hum Pathol. 2012 Aug;43(8):1334-8. doi: 10.1016/j.humpath.2011.11.020. Epub 2012 Apr 11.
Phosphaturic mesenchymal tumor of mixed connective tissue type is a rare, histologically distinctive mesenchymal neoplasm associated with tumor-induced osteomalacia resulting from production of the phosphaturic hormone fibroblast growth factor 23. Because of its rarity, specific genetic alterations that contribute to the pathogenesis of these tumors have yet to be elucidated. Herein, we report the abnormal karyotypes from 2 cases of confirmed phosphaturic mesenchymal tumor of mixed connective tissue type. G-banded analysis demonstrated the first tumor to have a karyotype of 46,Y,t(X;3;14)(q13;p25;q21)[15]/46XY[5], and the second tumor to have a karyotype of 46, XY,add(2)(q31),add(4)(q31.1)[2]/92,slx2[3]/46,sl,der(2)t(2;4)(q14.2;p14),der(4)t(2;4)(q14.2;p14),add(4)(q31.1)[10]/46,sdl,add(13)(q34)[4]/92,sdl2x2[1]. These represent what is, to our knowledge, the first examples of abnormal karyotypes obtained from phosphaturic mesenchymal tumor of mixed connective tissue type.
混合性结缔组织型磷酸盐尿性间叶肿瘤是一种罕见的、具有组织学特征的间叶性肿瘤，与肿瘤诱导性骨软化症相关，其原因是产生了磷酸盐尿激素成纤维细胞生长因子 23。由于其罕见性，导致这些肿瘤发病机制的特定基因改变尚未阐明。在此，我们报告了 2 例已确诊的混合性结缔组织型磷酸盐尿性间叶肿瘤的异常核型。G 显带分析显示，第一个肿瘤的核型为 46，Y，t(X；3；14)(q13;p25;q21)[15]/46XY[5]，第二个肿瘤的核型为 46，XY，add(2)(q31)，add(4)(q31.1)[2]/92，slx2[3]/46，der(2)t(2；4)(q14.2;p14)，der(4)t(2；4)(q14.2;p14)，add(4)(q31.1)[10]/46，sl，add(13)(q34)[4]/92，slx2[1]。这些代表了我们所知的首例从混合性结缔组织型磷酸盐尿性间叶肿瘤中获得的异常核型。
