Tsoelo-pele ho T-ALL Risk Stratification: Sehlopha se Thehiloeng ho NGS se Khetholla Lihlopha tse Kotsi e Phahameng

Phuputsong e ncha e phatlalalitsoeng ho Mali, bafuputsi ba sebelisitse tatellano ea moloko o latelang (NGS) ho ntlafatsa karohano ea likotsi tsa leukemia ea T-cell acute lymphoblastic (T-ALL). Sistimi ena e ntlafalitsoeng ea ho arola e fana ka mokhoa o nepahetseng haholoanyane oa ho bolela esale pele liphello tsa bakuli le ho khetholla lihlopha tse nyane tse kotsing e kholo, mohlomong e bula monyako oa maano a kalafo a ikhethileng haholoanyane.

Phuputso ena, e neng e kenyeletsa bakuli ba baholo ba 198 ba T-ALL ba tsoang tekong ea GRAALL-2003/2005 le bakuli ba bana ba 242 ba T-ALL ba tsoang tekong ea FRALLE2000T, e sebelisitse tatellano e reretsoeng ea whole-exome ho hlahloba liphatsa tsa lefutso tse 72 tse amanang le mofetše. Har'a liphuputso, liphetoho tsa NOTCH1 e ne e le tsona tse atileng haholo ho batho ba baholo, tse teng maemong a 77%, li lateloa ke liphetoho tsa CDKN2A (66%) le liphetoho tsa PHF6 (50%). Tlhahlobo ena e qaqileng ea liphatsa tsa lefutso e nolofalitse bafuputsi ho arola bakuli ka lihlopha tse kotsing e kholo le tse kotsi e tlase, ka litlamorao tse kholo bakeng sa tebello ea bona ea bokamoso.

Sistimi e ncha ea ho arola e thehiloeng ho NGS e ile ea ntlafatsoa, ​​​​e bontšitseng bokhoni bo phahameng ba ho bolela esale pele bakeng sa sekhahla sa ho khutlela morao se bokellaneng, ho phela ka kakaretso, le ho phela ntle le mafu ha ho bapisoa le mekhoa e fetileng. Phuputso e hlwaile bakuli ba kotsing e tlase e le ba nang le liphetoho tse itseng (mohlala, NOTCH1/FBXW7, PHF6, EP300) ntle le liphetoho tse ling tse kotsi haholo (mohlala, liphetoho tseleng ea PI3K, TP53, le IDH1/2). Bakuli bana ba bile le sekhahla sa ho khutlela morao se kopaneng (CIR) sa lilemo tse 5 sa 21%, ha ba sehlopheng sa likotsi tse phahameng ba tobane le CIR e phahameng haholo ea 47%.

Ho feta moo, ho kopanya diphihlello tsa NGS le mabaka a bongaka a kang palo ya disele tse tshweu tsa madi (WBC) le maemo a fokolang a mafu a setseng (MRD) ho lebisitse mohlaleng o ntlafaditsweng wa kotsi o arotseng bakudi ka dihlopha tse tharo: ba kotsing e kgolo, ba kotsing e mahareng, le ba kotsing e tlase. Mohlala ona o ipakile o sebetsa hantle haholo ho kgethololeng bakudi ba ka ruang molemo kalafong e matla haholoanyane, haholoholo ba nang le dijini tse kotsing e kgolo.

Liphuputso tsa phuputso li totobatsa bokhoni ba NGS ba ho ntlafatsa likhakanyo tsa ho bolela esale pele le ho ntlafatsa moralo oa kalafo bakeng sa bakuli ba baholo le bana ba nang le T-ALL. Ka ho kopanya temohisiso ea liphatsa tsa lefutso le lintlha tsa bongaka, lingaka li ka khetholla hamolemo bakuli ba ka ruang molemo mekhoeng e mecha ea phekolo e reretsoeng, joalo ka lithibela-mafu tsa PI3K le lithibela-mafu tse khethiloeng tsa IDH1/IDH2.

Ha thuto e ntse e bula tsela bakeng sa maano a kalafo a ikhethileng, e boetse eo e hlahisa dipotso tsa bohlokwa mabapi le ho sebetsa ha sehlopha sena dihlopheng tse fapaneng tsa merabe le ka mekgwa ya kalafo ya sejwalejwale. Le hoja karohano e thehilweng ho NGS e tshepisa, ho hlokahala dipatlisiso tse ding ho netefatsa katleho ya yona hara baahi ba fapaneng le ho ntlafatsa mokgwa wa ho sebetsana le dinyewe tse phephetsang, tse kang tse nang le T-ALL e sa laoleheng.