Novel deletion mutation of HLA‐B40:02 gene in acquired aplastic anemia
Despite prevalence of clonal evolution in patients with aplastic anemia (AA), somatic mutation of human leukocyte antigen (HLA) gene is rarely reported. Herein, we reported a case of acquired AA (aAA) harboring a new four‐base‐pair deletion mutation within exon 4 of HLA‐B*40:02 leading to frameshift...
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| Veröffentlicht in: | HLA 2017-01, Vol.89 (1), p.47-51 |
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| container_title | HLA |
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| creator | Jeong, T.‐D. Mun, Y.‐C. Chung, H.‐S. Seo, D. Im, J. Huh, J. |
| description | Despite prevalence of clonal evolution in patients with aplastic anemia (AA), somatic mutation of human leukocyte antigen (HLA) gene is rarely reported. Herein, we reported a case of acquired AA (aAA) harboring a new four‐base‐pair deletion mutation within exon 4 of HLA‐B*40:02 leading to frameshift and premature stop codon. The HLA‐B*40:02 mutant allele was detected in the patient's peripheral blood sample not in patient's buccal epithelial cells. The patient received allogenic hematopoietic stem cell transplantation (HSCT) from HLA‐matched sibling donor. On day 30 after HSCT, the mutant HLA allele was not detected by high‐resolution sequence‐based HLA typing. Serial chimerism analyses showed mixed chimeric status indicative of coexisting donor and recipient hematopoietic cells. Our data could provide additional support in view of pathophysiology of aAA that somatic mutation of HLA‐B*40:02 allele is one of the possible origin of clonal escape to evade immune attack in patient with aAA. |
| doi_str_mv | 10.1111/tan.12943 |
| format | Article |
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Herein, we reported a case of acquired AA (aAA) harboring a new four‐base‐pair deletion mutation within exon 4 of HLA‐B*40:02 leading to frameshift and premature stop codon. The HLA‐B*40:02 mutant allele was detected in the patient's peripheral blood sample not in patient's buccal epithelial cells. The patient received allogenic hematopoietic stem cell transplantation (HSCT) from HLA‐matched sibling donor. On day 30 after HSCT, the mutant HLA allele was not detected by high‐resolution sequence‐based HLA typing. Serial chimerism analyses showed mixed chimeric status indicative of coexisting donor and recipient hematopoietic cells. Our data could provide additional support in view of pathophysiology of aAA that somatic mutation of HLA‐B*40:02 allele is one of the possible origin of clonal escape to evade immune attack in patient with aAA.</description><identifier>ISSN: 2059-2302</identifier><identifier>EISSN: 2059-2310</identifier><identifier>DOI: 10.1111/tan.12943</identifier><identifier>PMID: 28025876</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>aplastic anemia ; cytotoxic T lymphocyte ; HLA‐B ; mutation</subject><ispartof>HLA, 2017-01, Vol.89 (1), p.47-51</ispartof><rights>2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd</rights><rights>2016 John Wiley & Sons A/S. 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Herein, we reported a case of acquired AA (aAA) harboring a new four‐base‐pair deletion mutation within exon 4 of HLA‐B*40:02 leading to frameshift and premature stop codon. The HLA‐B*40:02 mutant allele was detected in the patient's peripheral blood sample not in patient's buccal epithelial cells. The patient received allogenic hematopoietic stem cell transplantation (HSCT) from HLA‐matched sibling donor. On day 30 after HSCT, the mutant HLA allele was not detected by high‐resolution sequence‐based HLA typing. Serial chimerism analyses showed mixed chimeric status indicative of coexisting donor and recipient hematopoietic cells. Our data could provide additional support in view of pathophysiology of aAA that somatic mutation of HLA‐B*40:02 allele is one of the possible origin of clonal escape to evade immune attack in patient with aAA.</description><subject>aplastic anemia</subject><subject>cytotoxic T lymphocyte</subject><subject>HLA‐B</subject><subject>mutation</subject><issn>2059-2302</issn><issn>2059-2310</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><recordid>eNp1kLtOw0AQRVcIRKKQgh9A21I4mX34sXQhAoIUhSbU1mQ9i1byI9gOiI5P4Bv5EpwY0jHNvcXRkeYydilgIrqbtlhOhDRanbChhNAEUgk4PXaQAzZuGr8BGZkYotics4FMQIZJHA3ZYlW9Uc4zyqn1VcmLXYuHUjm-WM6-P79uNdyA5C9UEvclR_u68zVlHLc5Nq23HEsqPF6wM4d5Q-PfHLHn-7v1fBEsnx4e57NlYJUMVUAKQaJxBlWWCa0Q0cZKJQY0SK1tFmsKUTgN5KJIKmm1kqBjZ_dwslEjdt17bV01TU0u3da-wPojFZDuB0m7QdLDIB171bPb3aag7Ej-vd8B0x549zl9_G9K17NVr_wB3exo9w</recordid><startdate>201701</startdate><enddate>201701</enddate><creator>Jeong, T.‐D.</creator><creator>Mun, Y.‐C.</creator><creator>Chung, H.‐S.</creator><creator>Seo, D.</creator><creator>Im, J.</creator><creator>Huh, J.</creator><general>Blackwell Publishing Ltd</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><orcidid>https://orcid.org/0000-0002-3873-3117</orcidid></search><sort><creationdate>201701</creationdate><title>Novel deletion mutation of HLA‐B40:02 gene in acquired aplastic anemia</title><author>Jeong, T.‐D. ; Mun, Y.‐C. ; Chung, H.‐S. ; Seo, D. ; Im, J. ; Huh, J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3253-e3a02a9f9a3dd143aaac73389040244cd74e5a1f40ef66232c432047fc143a8b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>aplastic anemia</topic><topic>cytotoxic T lymphocyte</topic><topic>HLA‐B</topic><topic>mutation</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Jeong, T.‐D.</creatorcontrib><creatorcontrib>Mun, Y.‐C.</creatorcontrib><creatorcontrib>Chung, H.‐S.</creatorcontrib><creatorcontrib>Seo, D.</creatorcontrib><creatorcontrib>Im, J.</creatorcontrib><creatorcontrib>Huh, J.</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><jtitle>HLA</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Jeong, T.‐D.</au><au>Mun, Y.‐C.</au><au>Chung, H.‐S.</au><au>Seo, D.</au><au>Im, J.</au><au>Huh, J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Novel deletion mutation of HLA‐B40:02 gene in acquired aplastic anemia</atitle><jtitle>HLA</jtitle><addtitle>HLA</addtitle><date>2017-01</date><risdate>2017</risdate><volume>89</volume><issue>1</issue><spage>47</spage><epage>51</epage><pages>47-51</pages><issn>2059-2302</issn><eissn>2059-2310</eissn><abstract>Despite prevalence of clonal evolution in patients with aplastic anemia (AA), somatic mutation of human leukocyte antigen (HLA) gene is rarely reported. Herein, we reported a case of acquired AA (aAA) harboring a new four‐base‐pair deletion mutation within exon 4 of HLA‐B*40:02 leading to frameshift and premature stop codon. The HLA‐B*40:02 mutant allele was detected in the patient's peripheral blood sample not in patient's buccal epithelial cells. The patient received allogenic hematopoietic stem cell transplantation (HSCT) from HLA‐matched sibling donor. On day 30 after HSCT, the mutant HLA allele was not detected by high‐resolution sequence‐based HLA typing. Serial chimerism analyses showed mixed chimeric status indicative of coexisting donor and recipient hematopoietic cells. Our data could provide additional support in view of pathophysiology of aAA that somatic mutation of HLA‐B*40:02 allele is one of the possible origin of clonal escape to evade immune attack in patient with aAA.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>28025876</pmid><doi>10.1111/tan.12943</doi><tpages>5</tpages><orcidid>https://orcid.org/0000-0002-3873-3117</orcidid></addata></record> |
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| subjects | aplastic anemia cytotoxic T lymphocyte HLA‐B mutation |
| title | Novel deletion mutation of HLA‐B40:02 gene in acquired aplastic anemia |
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