Microsatellite instability screening and clinical efficacy in tumor tissue in patients with colorectal cancer

Year 2019, , 469 - 477, 31.12.2019

Serkan Yaraş , Hikmet Akkız

https://doi.org/10.26559/mersinsbd.562680

Abstract

Aim:
Microsatellite instability is a genetic pathway responsible for approximately
15% of sporadic colon cancers. It is caused by defects in the DNA mismatch
repair system. Microsatellite instability occurs in people with a damaged DNA
mismatch repair system and the risk of mutation increases. These
mutations in tumor suppressor genes cause colorectal cancer development.
Microsatellite instability is most commonly detected in proximal colon cancers.
Microsatellite instability in cancer tissues can be determined by PCR method.
In our group of patients with colorectal cancer, we planned a study to
investigate the effect of microsatellite instability on the clinicopathological
features and prognosis. Methods: In
this study, microsatellite instability was investigated in 50 patients who were
diagnosed to have colorectal cancer in Çukurova University Medical Faculty
Hospital. Results: Paraffin-embedded
specimens were examined by PCR method and 20 (40%) of them were
‘’microsatellite instable’’ and 30 (60%) were ‘’microsatellite stable’’. In
cases with microsatellite instability, tumors were found to be more proximal in
the proximal colon than in microsatellite stable cases (40% to 13.3%,
respectively, p <0.05). The age at the time of diagnosis was found younger
in the microsatellite instable group compared to the microsatellite stable
group (52.2 versus 61.97 years, respectively). Conclusion: The fact that microsatellite instable colorectal tumors
are different from those of microsatellite stable in terms of clinicopathological
and prognostic aspects suggests that this feature can be used as a prognostic
marker in the future.  Further studies
with more cases are needed.

Keywords

Colorectal cancer, microsatellite instability, prognosis

Kolorektal kanserli hastalarda tümör dokusunda mikrosatellit instabilite taranması ve klinik üzerine etkinliği

Abstract

Amaç: Mikrosatellit
instabilite, sporadik kolon kanserlerinin yaklaşık %15’inden sorumlu bir
genetik yolaktır. DNA mismatch (hatalı eşleşme) onarım sistemindeki
defektlerden dolayı oluşmaktadır. DNA mismatch onarım sistemi hatalı olan
kişilerde mikrosatellit instabilite oluşmakta ve mutasyon riski artmaktadır.
Tümör süpresör genlerde oluşan bu mutasyonlar başta kolorektal
kanser olmak üzere, endometrium kanseri, gastrik kanser vb malignansilerin
gelişimine yol açmaktadır. Mikrosatellit instabilite en sık proksimal kolon
kanserlerinde saptanmaktadır. Kanser dokularında mikrosatellit instabilite, PCR
yöntemi ile saptanabilmektedir. Kliniğimizde tanı koyulan kolorektal kanserli
hasta grubumuzda, Mikrosatellit İnstabilitenin klinikopatolojik özellikleri ve
prognoz üzerine etkisini araştırmak üzere bir çalışma planladık. Yöntem: Bu çalışmada Çukurova
Üniversitesi Tıp Fakültesi Hastanesi’nde tanı almış kolorektal kanserli 50
hastadan elde edilen kanserli parafin doku örneklerinde mikrosatellit
instabilite aranmıştır. Bulgular:
Parafine gömülü örneklerin PCR yöntemiyle incelenmesi sonucunda hastaların
20’si (%40) mikrosatellit instabil, 30’u (%60) mikrosatellit stabil olarak
saptandı. Mikrosatellit instabil olan olgularda, mikrosatellit stabil olgulara
göre daha sık oranda tümörlerin proksimal kolonda yerleştiği saptandı
(sırasıyla %40’a karşılık %13.3, p<0.05). Mikrosatellit instabil grupla
mikrosatelit stabil grup, tanı sırasındaki yaş açısından karşılaştırıldığında, instabil
olanlarda tanı sırasındaki yaşın daha küçük olduğu saptandı (sırasıyla 52.2’ye
karşılık 61.97 yaş). Sonuç:
Mikrosatellit instabil kolorektal tümörlerin klinikopatolojik ve prognostik
açıdan mikrosatellit stabil olanlardan farklı olması, ileride bu özelliğin
prognostik bir belirteç olarak kullanılabileceğini düşündürmektedir. Konuyla
ilgili daha fazla olgu sayılarıyla yeni çalışmalara ihtiyaç vardır. 

Keywords

Kolorektal Kanser, Mikrosatellit İnstabilite, Prognoz

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