Schofield D E, Yunis E J, Fletcher J A
Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
Am J Pathol. 1993 Sep;143(3):714-24.
Mesoblastic nephroma (MN) is the most common renal tumor diagnosed in infancy. Histologically, MNs are designated as classic, cellular, or mixed type based upon variations in cellularity. Recent karyotypic reports have suggested that extra copies of chromosome 11 are a nonrandom occurrence in MNs. We analyzed nuclear suspensions prepared from a group of 17 formalin-fixed, paraffin-embedded tumors to determine the possible role of chromosome 11 copy number in the genesis of MN. Extra copies of D11Z1 (a probe for the centromeric region of chromosome 11) were detected in seven out of 10 MNs with cellular or mixed histology, whereas each of six classic histology MNs were disomic for D11Z1 (P < 0.05). Additional fluorescence in situ hybridization studies utilizing the probes for the alpha satellite, centromeric regions of chromosomes 7, 8, 9, 12, 17, and 20 were then carried out on all cases with cellular or mixed histology. Five out of 10 cellular or mixed MNs had extra copies of D8Z1, and four out of 10 had extra copies of D17Z1, suggesting that gains of chromosomes 8 and 17 may be additional nonrandom cytogenetic events associated with the evolution of MNs. DNA aneuploidy, as determined by image analysis, was detected in three tumors: all had greater than four chromosomal aberrations documented by fluorescence in situ hybridization.
中胚叶肾瘤（MN）是婴儿期诊断出的最常见的肾肿瘤。从组织学上看，根据细胞密度的变化，MN可分为经典型、细胞型或混合型。最近的核型报告表明，11号染色体的额外拷贝在MN中并非随机出现。我们分析了一组17例福尔马林固定、石蜡包埋肿瘤制备的核悬液，以确定11号染色体拷贝数在MN发生中的可能作用。在10例细胞型或混合型组织学的MN中，有7例检测到D11Z1（11号染色体着丝粒区域的探针）的额外拷贝，而6例经典组织学的MN中，每例D11Z1均为二倍体（P<0.05）。然后，对所有细胞型或混合型组织学的病例进行了额外的荧光原位杂交研究，使用了针对7、8、9、12、17和20号染色体着丝粒区域的α卫星探针。10例细胞型或混合型MN中有5例有D8Z1的额外拷贝，10例中有4例有D17Z1的额外拷贝，这表明8号和17号染色体的增加可能是与MN演变相关的其他非随机细胞遗传学事件。通过图像分析确定的DNA非整倍体在3个肿瘤中被检测到：所有肿瘤通过荧光原位杂交记录的染色体畸变均超过4个。
