PMID- 35152627
OWN - NLM
STAT- MEDLINE
DCOM- 20220215
LR  - 20220531
IS  - 0529-5807 (Print)
IS  - 0529-5807 (Linking)
VI  - 51
IP  - 2
DP  - 2022 Feb 8
TI  - [Correlation of NTRK genetic fusions with mismatch repair protein deletion in 
      patients with colorectal cancer].
PG  - 103-107
LID - 10.3760/cma.j.cn112151-20210716-00512 [doi]
AB  - Objective: To investigate the relationship between the expression of four 
      mismatch repair proteins (MLH1, MSH2, MSH6 and PMS2) and NTRK genetic fusions in 
      colorectal cancer. Methods: The paraffin-embedded tissue blocks of 830 cases of 
      colorectal cancer were collected at the Affiliated Drum Tower Hospital, Nanjing 
      University Medical School, China, from 2015 to 2019. Immunohistochemical and 
      fluorescence in situ hybridization(FISH) method were used respectively to detect 
      the expression of mismatch repair proteins and the break-apart of NTRKs; and the 
      relationship between the expression of mismatch repair proteins and the NTRK 
      genetic fusions was analyzed. Results: The overall mismatch repair protein 
      deficiency (dMMR) rate was 9.88% (82/830), the mismatch repair proteins 
      proficiency (pMMR) rate was 90.12%(748/830). The total deficiency rate of MLH1 
      protein was 9.04% (75/830), hPMS2 protein deficiency rate was 9.04% (75/830), 
      MSH2 protein deficiency rate was 2.53% (21/830), MSH6 protein deficiency rate was 
      4.10% (34/830), the deficiency rate of synchronous MLH1 and PMS2 were 8.67% 
      (72/830) and the deficiency rate of synchronous MSH2 and MSH6 were 2.17% 
      (18/830). The dMMR group was associated with tumor location, different 
      histological subgroups, tumor differentiation, AJCC stage and N stage (P<0.05). 
      There were six cases (7.32%) carrying NTRK fusion by FISH among the 82 cases of 
      dMMR, but only seven cases (0.94%) carrying NTRK fusion among the 748 cases of 
      PMMR. The NTRKs translocation by FISH in all 13 cases were further confirmed by 
      next generation sequencing. Among the clinicopathological characteristics, only 
      differentiation showed significant difference between NTRK fusion positive and 
      negative groups (P<0.05). More importantly, NTRK fusion was enriched in dMMR 
      group (7.32% vs. 0.94%). Conclusion: In dMMR colorectal cancer group, the 
      prevalence of NTRK fusion is higher than that in pMMR group.
FAU - Pu, X H
AU  - Pu XH
AD  - Department of Pathology, the Affiliated Drum Tower Hospital, Nanjing University 
      Medical School, Nanjing 210008, China.
FAU - Gao, F P
AU  - Gao FP
AD  - Department of Pathology, Gaochun People's Hospital Branch, the Affiliated Drum 
      Tower Hospital, Nanjing University Medical School, Gaochun 211300, China.
FAU - Wu, H Y
AU  - Wu HY
AD  - Department of Pathology, the Affiliated Drum Tower Hospital, Nanjing University 
      Medical School, Nanjing 210008, China.
FAU - Fu, Y
AU  - Fu Y
AD  - Department of Pathology, the Affiliated Drum Tower Hospital, Nanjing University 
      Medical School, Nanjing 210008, China.
FAU - Fan, X S
AU  - Fan XS
AD  - Department of Pathology, the Affiliated Drum Tower Hospital, Nanjing University 
      Medical School, Nanjing 210008, China.
LA  - chi
PT  - Journal Article
PL  - China
TA  - Zhonghua Bing Li Xue Za Zhi
JT  - Zhonghua bing li xue za zhi = Chinese journal of pathology
JID - 0005331
RN  - EC 3.6.1.3 (Mismatch Repair Endonuclease PMS2)
RN  - EC 3.6.1.3 (MutL Protein Homolog 1)
RN  - EC 3.6.1.3 (MutS Homolog 2 Protein)
SB  - IM
MH  - *Colonic Neoplasms
MH  - *Colorectal Neoplasms/genetics
MH  - *DNA Mismatch Repair/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Mismatch Repair Endonuclease PMS2/genetics/metabolism
MH  - MutL Protein Homolog 1/genetics/metabolism
MH  - MutS Homolog 2 Protein/genetics/metabolism
EDAT- 2022/02/15 06:00
MHDA- 2022/02/16 06:00
CRDT- 2022/02/14 02:15
PHST- 2022/02/14 02:15 [entrez]
PHST- 2022/02/15 06:00 [pubmed]
PHST- 2022/02/16 06:00 [medline]
AID - 10.3760/cma.j.cn112151-20210716-00512 [doi]
PST - ppublish
SO  - Zhonghua Bing Li Xue Za Zhi. 2022 Feb 8;51(2):103-107. doi: 
      10.3760/cma.j.cn112151-20210716-00512.