Appendic cancer is very rare, accounting for less than 1% of gastrointestinal tumors, and there is little scientific data on the disease, which means that the current guidelines for the treatment of colon cancer are recommended for patients with appendic cancer. To understand why some patients with appendix cancer respond to standard treatment for colon cancer, while others do not, the researchers performed a genetic analysis of 703 appendix cancer samples. This is by far the largest study of appendix cancer to compare the mutations present in the two cancer types.
Tadqiqot natijalari appendiks saratonidagi genetik mutatsiyalar yo'g'on ichak saratonidan farq qilishini tasdiqladi. TP53 va GNAS mutatsiyalari appendiks saratoni bilan og'rigan bemorlarda omon qolishning yaxshi prognozi hisoblanadi. Kamdan kam uchraydigan appendiks saratoni uchun molekulyar xaritalarni olish potentsial davolash usullarini aniqlashga yordam beradi, chunki bizda boshqa saraton turlari kabi standart davolashni boshqaradigan klinik sinov ma'lumotlari yo'q. Mutatsiya spektri yuqori xavfli bemorlarni past xavfli bemorlardan ajratish uchun intensiv davolanishga muhtoj bo'lgan bemorlarni ajratish uchun biomarker sifatida ishlatilishi mumkin.
Retrospektiv tadqiqot shuni ko'rsatdiki, appendiks saratoni besh xil kichik tiplarni o'z ichiga oladi: shilliq adenokarsinoma (46%), adenokarsinoma (30%), goblet hujayrali karsinoma (12%), peritoneal psevdomiksoma (7.7%) va belgili hujayrali karsinoma (5.2%). Yo'g'on ichak saratonida kam uchraydigan GNAS gen mutatsiyalari appendiks saratonida, ayniqsa shilliq adenokarsinomada (52%) va peritoneal psevdomiksomada (72%) juda keng tarqalgan. GNAS mutatsiyalari bo'lgan o'smalari bo'lgan bemorlarning o'rtacha yashash muddati deyarli 10 yilni tashkil qiladi, TP53 mutatsiyasiga ega bo'lgan o'smalari bo'lgan bemorlarning o'rtacha yashash muddati bor-yo'g'i uch yil, bu ikki gen mutatsiyasi bo'lmagan bemorlarning o'rtacha omon qolish muddati esa 6 yil.
This surprising discovery raises the question of whether patients with early-stage GNAS-mutant tumors need to be treated with chemotherapy because it may be cured by surgery alone, so more research is needed to prove it.
