Kufambira Mberi muT-ALL Risk Stratification: NGS-Based Classification Inoona Mapoka Madiki Ane Njodzi Yakawanda
Muchidzidzo chebudiriro chakaburitswa mu Ropa, vaongorori vakashandisa nzira yekutevera chizvarwa chinotevera (NGS) kuti vavandudze kupatsanurwa kwengozi yeT-cell acute lymphoblastic leukemia (T-ALL). Iyi sisitimu yakagadziridzwa yekupatsanura inopa nzira yakanyatsojeka yekufanotaura mhedzisiro yemurwere uye kuona mapoka madiki ane njodzi huru, zvichigona kuvhura mukana wekurapa kwakagadzirirwa munhu mumwe chete.
Chidzidzo ichi, chaisanganisira varwere vakuru 198 veT-ALL kubva mukuyedzwa kweGRAALL-2003/2005 uye varwere vevana 242 veT-ALL kubva mukuyedzwa kweFRALLE2000T, chakashandisa kutevedzana kwe whole-exome kwakanangwa kuti vaongorore majini 72 ane chekuita nekenza. Pakati pezvakawanikwa, NOTCH1 mutations ndiyo yakanyanya kuwanda muvanhu vakuru, inowanikwa mu77% yezviitiko, ichiteverwa neCDKN2A mutations (66%) uye PHF6 mutations (50%). Kuongororwa kwemajini uku kwakadzama kwakabatsira vaongorori kuisa varwere muzvikamu zvine njodzi huru uye zvine njodzi shoma, zvine zvazvinoreva zvakanyanya pakufanotaura kwavo.
Sisitimu itsva yekupa mapoka yakavakirwa paNGS yakagadzirwa, iyo yakaratidza kugona kwepamusoro kwekufanotaura kwehuwandu hwekudzokera shure kwechirwere, kupona kwese, uye kupona kusina zvirwere zvichienzaniswa nenzira dzakamboshandiswa kare. Chidzidzo ichi chakaratidza varwere vane njodzi shoma sevaya vane shanduko dzakati (semuenzaniso, NOTCH1/FBXW7, PHF6, EP300) vasina dzimwe shanduko dzine njodzi huru (semuenzaniso, shanduko munzira yePI3K, TP53, uye IDH1/2). Varwere ava vaive nehuwandu hwekudzokera shure kwechirwere kwemakore mashanu (CIR) hwe21%, nepo avo vari muchikamu chenjodzi huru vakatarisana neCIR yakakwira ye47%.
Uyezve, kubatanidza zvakawanikwa neNGS nezvinhu zvakaita sehuwandu hwemasero machena eropa (WBC) uye huwandu hwezvirwere zvishoma (MRD) zvakaita kuti pave nemuenzaniso wengozi wakanyatsogadziriswa wakaisa varwere mumapoka matatu: vane njodzi huru, vane njodzi yepakati, uye vane njodzi shoma. Muenzaniso uyu wakaratidza kushanda zvakanaka mukusiyanisa varwere vanogona kubatsirwa nekurapwa kwakasimba, kunyanya avo vane majini ane njodzi huru.
Zvakawanikwa muchidzidzo ichi zvinoratidza kuti NGS inogona kunatsiridza kufanotaura kwezvirwere uye kuvandudza kuronga kurapwa kwevarwere vakuru nevana vane chirwere cheT-ALL. Nekubatanidza ruzivo rwemajini neruzivo rwekiriniki, vanachiremba vanogona kuona zviri nani varwere vanogona kubatsirwa nemishonga mitsva, yakadai sePI3K inhibitors uye selective IDH1/IDH2 inhibitors.
Sezvo chidzidzo ichi chichigadzira nzira dzekurapa dzakagadzirirwa munhu mumwe nemumwe, zvakareo inomutsa mibvunzo yakakosha nezvekushanda kwerudzi urwu mumapoka akasiyana-siyana uye nemaitiro emazuva ano ekurapa. Kunyange zvazvo kupatsanurwa kwakavakirwa paNGS kuchivimbisa, tsvakiridzo yakawanda inodiwa kuti isimbise kushanda kwayo pakati pevanhu vakasiyana-siyana uye kunatsiridza nzira dzevarwere vane dambudziko, vakaita seavo vane T-ALL isingateereri.