Role of proliferative marker index and KBTBD4 mutation in the pathological diagnosis of pineal parenchymal tumors.
Role of proliferative marker index and KBTBD4 mutation in the pathological diagnosis of pineal parenchymal tumors.
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增殖标志物指数及KBBTD4突变在松果体实质肿瘤病理诊断中的作用
DOI：
10.1007/s10014-021-00421-2
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发表时间：
2022
期刊：
影响因子：
--
通讯作者：
Nishikawa
中科院分区：
文献类型：
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作者：
Uchida E;Sasaki A;Shirahata M;Suzuki T;Adachi JI;Mishima K;Yasuda M;Fujimaki T;Ichimura K;Nishikawa
松果体实质肿瘤（PPTs）临床上罕见，通常需要活检确诊。为了提高PPT组织学评估的准确性，我们检测了PPT细胞的增殖能力，并研究了DICER1表达和kbtbd4突变。本研究纳入19例PPTs[3例松果体细胞瘤（PCs）， 10例中等分化PPTs (PPTID)， 6例松果体母细胞瘤（PBs）]。使用手术中切除的福尔马林固定石蜡包埋组织标本，对Ki-67、PHH3和DICER1进行免疫组化，并对kbtbd4突变进行Sanger测序分析。用图像分析软件定量肿瘤细胞增殖。PPTIDs与PBs在PHH3、MIB-1指标上差异有统计学意义（P< 0.05）。DICER1的缺失并不是PB所特有的；PPTIDs 0/3 pc(0.0%)、2/9(22.2%),和2/4 PBs(50.0%)。1/3 PCs（33.3%）、6/9 PPTIDs（66.7%）和0/4 PBs（0.0%）检测到kbtbd4突变。因此，联合应用增殖标记指数和kbtbd4突变分析可能有助于PPTs的鉴别诊断。此外，使用Sanger测序分析检测kbtbd4突变可能支持PPTID的诊断。
Pineal parenchymal tumors (PPTs) are clinically rare and a biopsy is often required for a definitive diagnosis. To improve the accuracy of histological assessment of PPTs, we examined the proliferative capacity of PPT cells and investigated DICER1 expression andKBTBD4mutations. This study included 19 cases of PPTs [3 pineocytomas (PCs), 10 PPTs of intermediate differentiation (PPTID), and 6 pineoblastomas (PBs)]. Immunohistochemistry for Ki-67, PHH3, and DICER1, as well as Sanger sequencing analysis forKBTBD4mutations, was performed using formalin-fixed paraffin-embedded tissue specimens that were resected during surgery. Tumor cell proliferation was quantified using an image analysis software. For the PHH3 and MIB-1 indices, a significant difference was observed between the PPTIDs and PBs (P< 0.05). Loss of DICER1 was not specific for PB; 0/3 PCs (0.0%), 2/9 PPTIDs (22.2%), and 2/4 PBs (50.0%).KBTBD4mutations were detected in 1/3 PCs (33.3%), 6/9 PPTIDs (66.7%), and 0/4 PBs (0.0%). Thus, combined application of the proliferative marker index andKBTBD4mutation analysis may be useful for the differential diagnosis of PPTs. Furthermore, detection ofKBTBD4mutations using Sanger sequencing analysis may support the diagnosis of PPTID.