Kim, Hyunhee; Lim, Ka Young; Park, Jin Woo; Kang, Jeongwan; Won, Jae Kyung; Lee, Kwanghoon; Shim, Yumi; Park, Chul-Kee; Kim, Seung-Ki; Choi, Seung-Hong; Kim, Tae Min; Yun, Hongseok; Park, Sung-Hye published the artcile< Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors>, Application In Synthesis of 112-63-0, the main research area is brain tumor sporadic Lynch syndrome mismatch repair.
Mismatch repair-deficient (MMRD) brain tumors are rare among primary brain tumors and can be induced by germline or sporadic mutations. Here, we report 13 MMRD-associated (9 sporadic and 4 Lynch syndrome) primary brain tumors to determine clinicopathol. and mol. characteristics and biol. behavior. Our 13 MMRD brain tumors included glioblastoma (GBM) IDH-wildtype (n = 9) including 1 gliosarcoma, astrocytoma IDH-mutant WHO grade 4 (n = 2), diffuse midline glioma (DMG) H3 K27M-mutant (n = 1), and pleomorphic xanthoastrocytoma (PXA) (n = 1). Next-generation sequencing using a brain tumor-targeted gene panel, microsatellite instability (MSI) testing, Sanger sequencing for germline MMR gene mutation, immunohistochem. of MMR proteins, and clinicopathol. and survival anal. were performed. There were many accompanying mutations, suggesting a high tumor mutational burden (TMB) in 77%, but TMB was absent in one case of GBM, IDH-wildtype, DMG, and PXA, resp. MSH2, MLH1, MSH6, and PMS2 mutations were found in 31%, 31%, 31% and 7% of patients, resp. MSI-high and MSI-low were found in 50% and 8% of these gliomas, resp. and 34% was MSI-stable. All Lynch syndrome-associated GBMs had MSI-high. In addition, 77% (10/13) had histopathol. multinucleated giant cells. The progression-free survival tended to be poorer than the patients with no MMRD gliomas, but the number and follow-up duration of our patients were insufficient to get statistical significance. In the present study, we found that the most common MMRD primary brain tumor was GBM IDH-wildtype. The genetic profile of MMRD GBM was different from that of conventional GBM. MMRD gliomas with TMB and MSI-H may be sensitive to immunotherapy but resistant to temozolomide. Our findings can help develop better treatment options.
Laboratory Investigation published new progress about Allele frequency. 112-63-0 belongs to class esters-buliding-blocks, and the molecular formula is C19H34O2, Application In Synthesis of 112-63-0.
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