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Polymorphous Low-Grade Neuroepithelial Tumor of the Young (PLNTY): Molecular Profiling Confirms Frequent MAPK Pathway Activation
Journal of Neuropathology and Experimental Neurology ( IF 3.2 ) Pub Date : 2021-08-07 , DOI: 10.1093/jnen/nlab075
Cristiane M Ida 1 , Derek R Johnson 2 , Asha A Nair 3 , Jaime Davila 3, 4 , Thomas M Kollmeyer 1 , Kay Minn 1 , Numrah M Fadra 3 , Jessica R Balcom 1 , Kar-Ming A Fung 5 , Dong Kun Kim 2 , Timothy J Kaufmann 2 , Benjamin R Kipp 1 , Kevin C Halling 1 , Robert B Jenkins 1 , Caterina Giannini 1
Affiliation  

Polymorphous low-grade neuroepithelial tumor of the young (PLNTY) is a recently described epileptogenic tumor characterized by oligodendroglioma-like components, aberrant CD34 expression, and frequent mitogen-activated protein kinase (MAPK) pathway activation. We molecularly profiled 13 cases with diagnostic histopathological features of PLNTY (10 female; median age, 16 years; range, 5–52). Patients frequently presented with seizures (9 of 12 with available history) and temporal lobe tumors (9 of 13). MAPK pathway activating alterations were identified in all 13 cases. Fusions were present in the 7 youngest patients: FGFR2-CTNNA3 (n = 2), FGFR2-KIAA1598 (FGFR2-SHTN1) (n = 1), FGFR2-INA (n = 1), FGFR2-MPRIP (n = 1), QKI-NTRK2 (n = 1), and KIAA1549-BRAF (n = 1). BRAF V600E mutation was present in 6 patients (17 years or older). Two fusion-positive cases additionally harbored TP53/RB1 abnormalities suggesting biallelic inactivation. Copy number changes predominantly involving whole chromosomes were observed in all 10 evaluated cases, with losses of chromosome 10q occurring with FGFR2-KIAA1598 (SHTN1)/CTNNA3 fusions. The KIAA1549-BRAF and QKI-NTRK2 fusions were associated respectively with a 7q34 deletion and 9q21 duplication. This study shows that despite its name, PLNTY also occurs in older adults, who frequently show BRAF V600E mutation. It also expands the spectrum of the MAPK pathway activating alterations associated with PLNTY and demonstrates recurrent chromosomal copy number changes consistent with chromosomal instability.

中文翻译:

青年多形性低级别神经上皮肿瘤 (PLNTY):分子分析证实了频繁的 MAPK 通路激活

多形性低级别青年神经上皮肿瘤 (PLNTY) 是最近描述的一种致癫痫性肿瘤,其特征是少突胶质细胞瘤样成分、异常的 CD34 表达和频繁的丝裂原活化蛋白激酶 (MAPK) 通路激活。我们对 13 例具有 PLNTY 诊断组织病理学特征的病例进行分子分析(10 名女性;中位年龄,16 岁;范围,5-52)。患者经常出现癫痫发作(12 例中有 9 例有病史)和颞叶肿瘤(13 例中有 9 例)。在所有 13 例病例中均发现了 MAPK 通路激活改变。7 名最年轻的患者中存在融合:FGFR2-CTNNA3 (n = 2)、FGFR2-KIAA1598 (FGFR2-SHTN1) (n = 1)、FGFR2-INA (n = 1)、FGFR2-MPRIP (n = 1)、 QKI-NTRK2 (n = 1) 和 KIAA1549-BRAF (n = 1)。6 名患者(17 岁或以上)存在 BRAF V600E 突变。两个融合阳性病例还具有提示双等位基因失活的 TP53/RB1 异常。在所有 10 个评估病例中观察到主要涉及整个染色体的拷贝数变化,FGFR2-KIAA1598 (SHTN1)/CTNNA3 融合发生染色体 10q 的丢失。KIAA1549-BRAF 和 QKI-NTRK2 融合分别与 7q34 缺失和 9q21 重复相关。这项研究表明,尽管 PLNTY 有其名称,但它也发生在老年人身上,他们经常表现出 BRAF V600E 突变。它还扩展了 MAPK 通路激活与 PLNTY 相关的改变的范围,并证明了与染色体不稳定性一致的复发性染色体拷贝数变化。在所有 10 个评估病例中观察到主要涉及整个染色体的拷贝数变化,FGFR2-KIAA1598 (SHTN1)/CTNNA3 融合发生染色体 10q 的丢失。KIAA1549-BRAF 和 QKI-NTRK2 融合分别与 7q34 缺失和 9q21 重复相关。这项研究表明,尽管 PLNTY 有其名称,但它也发生在老年人身上,他们经常表现出 BRAF V600E 突变。它还扩展了 MAPK 通路激活与 PLNTY 相关的改变的范围,并证明了与染色体不稳定性一致的复发性染色体拷贝数变化。在所有 10 个评估病例中观察到主要涉及整个染色体的拷贝数变化,FGFR2-KIAA1598 (SHTN1)/CTNNA3 融合发生染色体 10q 的丢失。KIAA1549-BRAF 和 QKI-NTRK2 融合分别与 7q34 缺失和 9q21 重复相关。这项研究表明,尽管 PLNTY 有其名称,但它也发生在老年人身上,他们经常表现出 BRAF V600E 突变。它还扩展了 MAPK 通路激活与 PLNTY 相关的改变的范围,并证明了与染色体不稳定性一致的复发性染色体拷贝数变化。这项研究表明,尽管 PLNTY 有其名称,但它也发生在老年人身上,他们经常表现出 BRAF V600E 突变。它还扩展了 MAPK 通路激活与 PLNTY 相关的改变的范围,并证明了与染色体不稳定性一致的复发性染色体拷贝数变化。这项研究表明,尽管 PLNTY 有其名称,但它也发生在老年人身上,他们经常表现出 BRAF V600E 突变。它还扩展了 MAPK 通路激活与 PLNTY 相关的改变的范围,并证明了与染色体不稳定性一致的复发性染色体拷贝数变化。
更新日期:2021-08-07
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