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Alteration of SF3B1 and SRSF2 Genes in Myelodysplastic Syndromes Patients in Upper Northern Thailand
BACKGROUND: The frequency and pattern of mutation in SF3B1 and SRSF2 RNA splicing machinery genes were found to vary among myelodysplastic syndrome (MDS) patients in different populations. There have been less reports of incidence of these gene mutations in Thailand especially in upper northern Thai...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
West Asia Organization for Cancer Prevention
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6948884/ https://www.ncbi.nlm.nih.gov/pubmed/31030497 http://dx.doi.org/10.31557/APJCP.2019.20.4.1215 |
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author | Yimpak, Phuttirak Tantiworawit, Adisak Rattanathammethee, Thanawat Angsuchawan, Sirinda Laowatthanapong, Sikrai Tasuya, Witoon Bumroongkit, Kanokkan |
author_facet | Yimpak, Phuttirak Tantiworawit, Adisak Rattanathammethee, Thanawat Angsuchawan, Sirinda Laowatthanapong, Sikrai Tasuya, Witoon Bumroongkit, Kanokkan |
author_sort | Yimpak, Phuttirak |
collection | PubMed |
description | BACKGROUND: The frequency and pattern of mutation in SF3B1 and SRSF2 RNA splicing machinery genes were found to vary among myelodysplastic syndrome (MDS) patients in different populations. There have been less reports of incidence of these gene mutations in Thailand especially in upper northern Thailand. This study therefore had aims to investigate the frequency and pattern of mutation in mutational hotspot of SF3B1 and SRSF2 genes among MDS patients in upper northern Thailand and to investigate the clinical features associated with the mutations. METHODS: Fifty-five MDS patients who underwent treatment at Maharaj Nakorn Chiang Mai Hospital participated in this study. The detection of SF3B1 and SRSF2 hotspot mutations was carried out using polymerase chain reaction followed by Sanger sequencing. In addition, clinical features of individual patients with these gene mutations were also investigated. RESULTS: SF3B1 mutations (SF3B1(mut)) were found in 9 patients (16.4%) including E622D (1/9), R625C (1/9), H662Q (1/9), K700E (5/9), and Q699H co-mutation with K700E (1/9). SRSF2 mutations (SRSF2(mut)) were found in 4 patients (7.3%) which included P95H (3/4) and P95L (1/4). The SF3B1(mut) was associated with lower hemoglobin levels (p = 0.023) and higher platelet counts (p = 0.047) when compared with MDS patients without SF3B1(mut), while SRSF2(mut) tended to occur in patients with a higher percentage of bone marrow blasts (p = 0.074). CONCLUSION: The findings confirmed the difference in frequency of SF3B1 and SRSF2 mutations among different populations. Specifically, we found a co-mutation of Q699H and K700E that has not been previously reported in MDS patients in the COSMIC database. It was also found that SF3B1(mut) was strongly associated with low hemoglobin level, and high platelet counts whereas SRSF2(mut) was mostly clustered in MDS with excess blasts subsequently increasing the probability of progression to acute myeloid leukemia. |
format | Online Article Text |
id | pubmed-6948884 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | West Asia Organization for Cancer Prevention |
record_format | MEDLINE/PubMed |
spelling | pubmed-69488842020-02-04 Alteration of SF3B1 and SRSF2 Genes in Myelodysplastic Syndromes Patients in Upper Northern Thailand Yimpak, Phuttirak Tantiworawit, Adisak Rattanathammethee, Thanawat Angsuchawan, Sirinda Laowatthanapong, Sikrai Tasuya, Witoon Bumroongkit, Kanokkan Asian Pac J Cancer Prev Research Article BACKGROUND: The frequency and pattern of mutation in SF3B1 and SRSF2 RNA splicing machinery genes were found to vary among myelodysplastic syndrome (MDS) patients in different populations. There have been less reports of incidence of these gene mutations in Thailand especially in upper northern Thailand. This study therefore had aims to investigate the frequency and pattern of mutation in mutational hotspot of SF3B1 and SRSF2 genes among MDS patients in upper northern Thailand and to investigate the clinical features associated with the mutations. METHODS: Fifty-five MDS patients who underwent treatment at Maharaj Nakorn Chiang Mai Hospital participated in this study. The detection of SF3B1 and SRSF2 hotspot mutations was carried out using polymerase chain reaction followed by Sanger sequencing. In addition, clinical features of individual patients with these gene mutations were also investigated. RESULTS: SF3B1 mutations (SF3B1(mut)) were found in 9 patients (16.4%) including E622D (1/9), R625C (1/9), H662Q (1/9), K700E (5/9), and Q699H co-mutation with K700E (1/9). SRSF2 mutations (SRSF2(mut)) were found in 4 patients (7.3%) which included P95H (3/4) and P95L (1/4). The SF3B1(mut) was associated with lower hemoglobin levels (p = 0.023) and higher platelet counts (p = 0.047) when compared with MDS patients without SF3B1(mut), while SRSF2(mut) tended to occur in patients with a higher percentage of bone marrow blasts (p = 0.074). CONCLUSION: The findings confirmed the difference in frequency of SF3B1 and SRSF2 mutations among different populations. Specifically, we found a co-mutation of Q699H and K700E that has not been previously reported in MDS patients in the COSMIC database. It was also found that SF3B1(mut) was strongly associated with low hemoglobin level, and high platelet counts whereas SRSF2(mut) was mostly clustered in MDS with excess blasts subsequently increasing the probability of progression to acute myeloid leukemia. West Asia Organization for Cancer Prevention 2019 /pmc/articles/PMC6948884/ /pubmed/31030497 http://dx.doi.org/10.31557/APJCP.2019.20.4.1215 Text en This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Yimpak, Phuttirak Tantiworawit, Adisak Rattanathammethee, Thanawat Angsuchawan, Sirinda Laowatthanapong, Sikrai Tasuya, Witoon Bumroongkit, Kanokkan Alteration of SF3B1 and SRSF2 Genes in Myelodysplastic Syndromes Patients in Upper Northern Thailand |
title | Alteration of SF3B1 and SRSF2 Genes in Myelodysplastic Syndromes Patients in Upper Northern Thailand |
title_full | Alteration of SF3B1 and SRSF2 Genes in Myelodysplastic Syndromes Patients in Upper Northern Thailand |
title_fullStr | Alteration of SF3B1 and SRSF2 Genes in Myelodysplastic Syndromes Patients in Upper Northern Thailand |
title_full_unstemmed | Alteration of SF3B1 and SRSF2 Genes in Myelodysplastic Syndromes Patients in Upper Northern Thailand |
title_short | Alteration of SF3B1 and SRSF2 Genes in Myelodysplastic Syndromes Patients in Upper Northern Thailand |
title_sort | alteration of sf3b1 and srsf2 genes in myelodysplastic syndromes patients in upper northern thailand |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6948884/ https://www.ncbi.nlm.nih.gov/pubmed/31030497 http://dx.doi.org/10.31557/APJCP.2019.20.4.1215 |
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