Umdlavuza we-appedic uyivelakancane kakhulu, ubalwa ngaphansi kwe-1% yezimila zamathumbu, futhi kunemininingwane encane yesayensi ngalesi sifo, okusho ukuthi imihlahlandlela yamanje yokwelapha umdlavuza wamathumbu iyanconywa ezigulini ezinomdlavuza we-appendic. Ukuze uqonde ukuthi kungani ezinye iziguli ezinomdlavuza we-appendix zisabela ekwelapheni okujwayelekile komdlavuza wekoloni, kuyilapho abanye bengakwenzi, abacwaningi benze uhlaziyo lofuzo lwamasampula omdlavuza we-appendix angama-703. Lolu wucwaningo olukhulu kakhulu lomdlavuza we-appendix ukuqhathanisa izinguquko ezikhona ezinhlotsheni ezimbili zomdlavuza.
Imiphumela yocwaningo iqinisekise ukuthi ukuguqulwa kofuzo kumdlavuza we-appendix kuhlukile kulokho okukumdlavuza wekoloni. Ukuguqulwa kwe-TP53 kanye ne-GNAS kuyizibikezelo ezinhle zokusinda ezigulini ezinomdlavuza we-appendix. Ngomdlavuza we-appendix ongavamile, ukuthola amamephu wamangqamuzana kuzosiza ukunquma izinketho zokwelapha ezingaba khona ngoba asinayo idatha yesilingo somtholampilo esiqondisa ukwelashwa okujwayelekile njengamanye umdlavuza. Okubaluleke ngokufanayo, i-mutation spectrum ingasetshenziswa njenge-biomarker ukuhlukanisa iziguli ezisengozini enkulu ezidinga ukwelashwa okuqinile ukuze zizihlukanise neziguli ezisengozini encane.
Ucwaningo lwe-retrospective luthole ukuthi umdlavuza we-appendix uhlanganisa izinhlobo ezinhlanu ezihlukene: i-mucinous adenocarcinoma (46%), i-adenocarcinoma (30%), i-goblet cell carcinoma (12%), i-peritoneal pseudomyxoma (7.7%), ne-signet ring Cell carcinoma (5.2%). Ukuguqulwa kofuzo lwe-GNAS okungajwayelekile kumdlavuza wekholoni kuvame kakhulu kumdlavuza we-appendix, ikakhulukazi i-mucinous adenocarcinoma (52%) kanye ne-peritoneal pseudomyxoma (72%). Ukusinda okumaphakathi kweziguli ezinamathumba anokuguqulwa kwe-GNAS cishe iminyaka eyi-10, kuyilapho ukusinda okumaphakathi kweziguli ezinamathumba anokuguqulwa kwe-TP53 iminyaka emithathu kuphela, futhi ukusinda okumaphakathi kweziguli ngaphandle kwalokhu kuguqulwa kofuzo okubili iminyaka engu-6.
Lokhu kutholakala okumangazayo kuphakamisa umbuzo wokuthi ingabe iziguli ezinezimila ze-GNAS-mutant ezisanda kuqala zidinga ukwelashwa ngamakhemikhali ngoba zingelapheka ngokuhlinzwa kuphela, ngakho ucwaningo olwengeziwe luyadingeka ukuze kufakazele lokho.
