Ngā Whakatairanga Mōrearea T-ALL: Ko te Whakarōpūtanga e Hangai ana ki te NGS e Tāutu ana i ngā Rōpū Iti Mōrearea-Tiketike
I roto i tētahi rangahau hou i whakaputaina i roto i Toto, kua whakamahia e ngā kairangahau te raupapatanga o te whakatupuranga hou (NGS) hei whakapai ake i te wehewehenga mōrearea o te mate pukupuku toto lymphoblastic acute pūtau-T (T-ALL). Mā tēnei pūnaha whakarōpūtanga whakarei ake ka tukuna he huarahi tika ake hei matapae i ngā putanga o te tūroro me te tautuhi i ngā rōpū iti mōrearea nui, ka huaki pea te kuaha ki ngā rautaki maimoatanga whaiaro ake.
I roto i te rangahau, i whakaurua ai ngā tūroro pakeke 198 o te whakamātautau GRAALL-2003/2005 me ngā tūroro tamariki 242 o te whakamātautau FRALLE2000T, i whakamahia te raupapatanga exome katoa kua arotahihia hei tirotiro i ngā ira e 72 e pā ana ki te mate pukupuku. I roto i ngā kitenga, ko ngā whakarerekētanga NOTCH1 te mea tino kitea i roto i ngā pakeke, e kitea ana i roto i te 77% o ngā take, ā, whai muri ko ngā whakarerekētanga CDKN2A (66%) me ngā whakarerekētanga PHF6 (50%). Nā tēnei whakatauira ira taipitopito i taea ai e ngā kairangahau te whakarōpū i ngā tūroro ki ngā kāwai mōrearea nui me ngā kāwai mōrearea iti, me ngā pānga nui ki ō rātou matapae.
I whakawhanakehia he pūnaha whakarōpūtanga hou e ahu mai ana i te NGS, i whakaatu i ngā āheinga matapae pai ake mō ngā reiti hokinga whakamuri, te oranga whānui, me te oranga kore mate ki te whakataurite ki ngā tikanga o mua. I tautuhia e te rangahau ngā tūroro iti te mōrearea ko te hunga e mau ana i ngā whakarerekētanga motuhake (hei tauira, NOTCH1/FBXW7, PHF6, EP300) kāore he whakarerekētanga mōrearea nui atu (hei tauira, ngā whakarerekētanga i roto i te ara PI3K, TP53, me IDH1/2). Ko te reiti hokinga whakamuri (CIR) mō ēnei tūroro e 5-tau te roa he 21%, ko te hunga i roto i te kāwai mōrearea nui i tūtaki ki te CIR teitei ake o te 47%.
Hei tāpiritanga, mā te whakauru i ngā kitenga NGS me ngā āhuatanga haumanu pēnei i te tatau toto ma (WBC) me te iti o ngā taumata mate toenga (MRD) i hua ake ai he tauira mōrearea kua whakatikatikaina i whakarōpūtia ai ngā tūroro ki ngā rōpū e toru: te mōrearea nui, te mōrearea waenga, me te mōrearea iti. I kitea he tino whai hua tēnei tauira ki te wehewehe i ngā tūroro ka whai hua mai i ngā maimoatanga kaha ake, inā koa ko ērā he nui te mōrearea o ngā ira.
E whakaatu ana ngā kitenga o te rangahau i te kaha o te NGS ki te whakapai ake i ngā matapae mō te mate me te whakapai ake i te whakamahere maimoatanga mō ngā tūroro T-ALL pakeke me ngā tamariki. Mā te whakakotahi i ngā māramatanga ira me ngā raraunga haumanu, ka taea e ngā tākuta te tautuhi pai ake i ngā tūroro ka whai hua pea mai i ngā maimoatanga arotahi hou, pērā i ngā aukati PI3K me ngā aukati IDH1/IDH2 whiriwhiri.
I te mea e whakatakoto ana te rangahau i te ara mō ngā rautaki maimoatanga whaiaro, ka kitea anō hokika ara ake ngā pātai nui mō te whai huatanga o tēnei whakarōpūtanga i roto i ngā iwi rerekē me ngā tikanga maimoatanga hou. Ahakoa he pai te whakarōpūtanga e hangai ana ki te NGS, me whai rangahau anō hei whakamana i tōna whai huatanga puta noa i ngā taupori kanorau, me te whakapai ake i te huarahi mō ngā take uaua, pērā i ngā mea he uaua te T-ALL.