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Tumor microsatellite instability and clinicopathologic features in Iranian colorectal cancer patients at risk for Lynch syndrome.

Zeinalian M, Hashemzadeh-Chaleshtori M, Salehi R, Kazemi M, Emami MH - J Res Med Sci (2015)

Bottom Line: BAT-26 was the most instable marker with instability in 7/24 MSI tumors (29.2%).The most common tumor sites in MSS, MSI-L, and MSI-H probands were rectosigmoid (∼72.8%), rectum (66.7%) and right colon (50.0%), respectively.Meanwhile, more evaluations within our population are recommended.

View Article: PubMed Central - PubMed

Affiliation: Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran ; Clinic of Gastrointestinal Diseases, Poursina Hakim Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

ABSTRACT

Background: Microsatellite instability (MSI) is a mutational signature that is the hallmark of Lynch syndrome, and MSI testing is a cost-effective method to screen the disease. Since there is no enough data about MSI status and associated clinicopathologic features of hereditary nonpolyposis colorectal cancer (HNPCC) in Iran, our study is a new trial to describe them in center of Iran (Isfahan).

Materials and methods: It is a descriptive retrospective study to screen HNPCC families using Amsterdam II criteria in Central Iran within 2000-2013. For MSI testing, we used a commercially available kit evaluating mononucleotide markers (BAT-25, BAT-26, MON0-27, NR-21 and NR-24). After a fluorescent multiplex polymerase chain reaction amplification of the markers, samples were sequenced to fragment analysis. Data analysis was performed using SPSS 16 software (SPSS Inc., Chicago, IL, USA).

Results: Overall, 31 of 45 screened HNPCC families were eventually included to MSI testing. Totally, 9/31 patients (29.0%) showed MSI in their tumor tissues. BAT-26 was the most instable marker with instability in 7/24 MSI tumors (29.2%). The mean age at diagnosis in microsatellite stable (MSS), MSI-Low (MSI-L), and MSI-High (MSI-H) probands was respectively 44.7 (standard deviation [SD] = 11.83), 51.7 (SD = 16.17), and 36.0 (SD = 3.41) years. The most common tumor sites in MSS, MSI-L, and MSI-H probands were rectosigmoid (∼72.8%), rectum (66.7%) and right colon (50.0%), respectively. Of 186 cancer patients among 31 HNPCC families, 86 patients (46.2%) had colorectal cancer (CRC) and 100 patients (53.8%) had extracolonic cancers. The average of CRC affected members among MSS, MSI-L, and MSI-H groups of our HNPCC families was 2.2 (SD = 1.30), 3.3 (SD = 3.21), and 4.7 (SD = 2.42) patients per family, respectively. Stomach with 18.3% and 26.7% of all extracolonic cancers were most common involved organ in MSS and MSI-H families, respectively.

Conclusion: Our different molecular results could be suggested to describe HNPCC families based on some new molecular mechanisms leading to MSS HNPCC phenotypes. Meanwhile, more evaluations within our population are recommended.

No MeSH data available.


Related in: MedlinePlus

An example of microsatellite instability in one of our DNA electropherogram Traces: It is related to three quasimononucleotide markers including NR-21, BAT-25, and MONO-27, indicating normal stability state in upper sample (153453 3) as normal healthy tissue, and instability state in every three markers in lower sample (153454 4) as tumor tissue
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Figure 2: An example of microsatellite instability in one of our DNA electropherogram Traces: It is related to three quasimononucleotide markers including NR-21, BAT-25, and MONO-27, indicating normal stability state in upper sample (153453 3) as normal healthy tissue, and instability state in every three markers in lower sample (153454 4) as tumor tissue

Mentions: In 4/6 MSI-H patients all markers were instable (66.6%), and among two rest patients, one showed instability in four markers (except MONO-27) and the other showed instability in two of them (BAT-26 and NR-24) [Figures 1 and 2].


Tumor microsatellite instability and clinicopathologic features in Iranian colorectal cancer patients at risk for Lynch syndrome.

Zeinalian M, Hashemzadeh-Chaleshtori M, Salehi R, Kazemi M, Emami MH - J Res Med Sci (2015)

An example of microsatellite instability in one of our DNA electropherogram Traces: It is related to three quasimononucleotide markers including NR-21, BAT-25, and MONO-27, indicating normal stability state in upper sample (153453 3) as normal healthy tissue, and instability state in every three markers in lower sample (153454 4) as tumor tissue
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4400710&req=5

Figure 2: An example of microsatellite instability in one of our DNA electropherogram Traces: It is related to three quasimononucleotide markers including NR-21, BAT-25, and MONO-27, indicating normal stability state in upper sample (153453 3) as normal healthy tissue, and instability state in every three markers in lower sample (153454 4) as tumor tissue
Mentions: In 4/6 MSI-H patients all markers were instable (66.6%), and among two rest patients, one showed instability in four markers (except MONO-27) and the other showed instability in two of them (BAT-26 and NR-24) [Figures 1 and 2].

Bottom Line: BAT-26 was the most instable marker with instability in 7/24 MSI tumors (29.2%).The most common tumor sites in MSS, MSI-L, and MSI-H probands were rectosigmoid (∼72.8%), rectum (66.7%) and right colon (50.0%), respectively.Meanwhile, more evaluations within our population are recommended.

View Article: PubMed Central - PubMed

Affiliation: Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran ; Clinic of Gastrointestinal Diseases, Poursina Hakim Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

ABSTRACT

Background: Microsatellite instability (MSI) is a mutational signature that is the hallmark of Lynch syndrome, and MSI testing is a cost-effective method to screen the disease. Since there is no enough data about MSI status and associated clinicopathologic features of hereditary nonpolyposis colorectal cancer (HNPCC) in Iran, our study is a new trial to describe them in center of Iran (Isfahan).

Materials and methods: It is a descriptive retrospective study to screen HNPCC families using Amsterdam II criteria in Central Iran within 2000-2013. For MSI testing, we used a commercially available kit evaluating mononucleotide markers (BAT-25, BAT-26, MON0-27, NR-21 and NR-24). After a fluorescent multiplex polymerase chain reaction amplification of the markers, samples were sequenced to fragment analysis. Data analysis was performed using SPSS 16 software (SPSS Inc., Chicago, IL, USA).

Results: Overall, 31 of 45 screened HNPCC families were eventually included to MSI testing. Totally, 9/31 patients (29.0%) showed MSI in their tumor tissues. BAT-26 was the most instable marker with instability in 7/24 MSI tumors (29.2%). The mean age at diagnosis in microsatellite stable (MSS), MSI-Low (MSI-L), and MSI-High (MSI-H) probands was respectively 44.7 (standard deviation [SD] = 11.83), 51.7 (SD = 16.17), and 36.0 (SD = 3.41) years. The most common tumor sites in MSS, MSI-L, and MSI-H probands were rectosigmoid (∼72.8%), rectum (66.7%) and right colon (50.0%), respectively. Of 186 cancer patients among 31 HNPCC families, 86 patients (46.2%) had colorectal cancer (CRC) and 100 patients (53.8%) had extracolonic cancers. The average of CRC affected members among MSS, MSI-L, and MSI-H groups of our HNPCC families was 2.2 (SD = 1.30), 3.3 (SD = 3.21), and 4.7 (SD = 2.42) patients per family, respectively. Stomach with 18.3% and 26.7% of all extracolonic cancers were most common involved organ in MSS and MSI-H families, respectively.

Conclusion: Our different molecular results could be suggested to describe HNPCC families based on some new molecular mechanisms leading to MSS HNPCC phenotypes. Meanwhile, more evaluations within our population are recommended.

No MeSH data available.


Related in: MedlinePlus