Somatic mosaic mutations of IDH1 and NPM1 associated with cup-like acute myeloid leukemia in a patient with Maffucci syndrome
Maffucci syndrome is a nonhereditary congenital disorder characterized by multiple enchondromas and with soft-tissue hemangiomas. Somatic mutations of the isocitrate dehydrogenase ( IDH ) gene have been detected in enchondroma and hemangioma tissue from patients with Maffucci syndrome. The rate of m...
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| Veröffentlicht in: | International journal of hematology 2015-12, Vol.102 (6), p.723-728 |
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| creator | Akiyama, Masaharu Yamaoka, Masayoshi Mikami-Terao, Yoko Ohyama, Wataru Yokoi, Kentaro Arakawa, Yasuhiro Takita, Junko Suzuki, Hideaki Yamada, Hisashi |
| description | Maffucci syndrome is a nonhereditary congenital disorder characterized by multiple enchondromas and with soft-tissue hemangiomas. Somatic mutations of the isocitrate dehydrogenase (
IDH
) gene have been detected in enchondroma and hemangioma tissue from patients with Maffucci syndrome. The rate of malignant transformation in Maffucci syndrome is high, with enchondromas transforming into chondrosarcomas and the development of secondary neoplasms, including pancreatic and hepatic adenocarcinoma, mesenchymal ovarian tumors, and brain tumors such as glioma. However, hematopoietic malignancies arising in Maffucci syndrome are rare. We report a 7-year-old girl with Maffucci syndrome in whom acute myeloid leukemia (AML) with cup-like nuclear invagination developed. Both leukemic cells and hemangioma had the same gene mutations: an insertion frameshift c.863_864insTCTG (p.W288 fs) in the nucleophosmin (
NPM1
) gene and a missense mutation c.392_395GTCG > CTCT (p.G131_R132 > AL) in the
IDH1
gene. However, buccal mucosa cells and peripheral blood mononuclear cells harvested after two cycles of chemotherapy showed wild-type genotypes. These results suggest that the multiple somatic mutations of the
IDH1
and
NPM1
genes in hemangioblasts are related to the development of cup-like AML associated with Maffucci syndrome. However, further studies are needed to identify additional molecular events in AML but not in hemangioma. |
| doi_str_mv | 10.1007/s12185-015-1892-z |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1744658721</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1744658721</sourcerecordid><originalsourceid>FETCH-LOGICAL-c466t-b3eff911fa3dffd500c33d2a1abe6a88d9ca3631049af3e18296e8c6af19b61c3</originalsourceid><addsrcrecordid>eNp1kcFqFTEUhoMo9lp9ADcScOMmmpPMJJmltNoWWhXUdcjNnGjamcl1MkFuoe9uLlNFBFcnId__n8BHyHPgr4Fz_SaDANMyDi0D0wl2-4BswKiWSa2bh2TDO9GyVgM_Ik9yvuYcNG_0Y3IkVMuN4M2G3H1Oo1uip2PK7jDKUq9pyjQFenF6DtRNPf3w6aoeck4-ugV7-jMu36kvOzbEG6TOlwXpuMchxZ4OWG5wjI7GiTq6q204LWviyoVQvI8076d-TiM-JY-CGzI-u5_H5Ov7d19Oztnlx7OLk7eXzDdKLWwrMYQOIDjZh9C3nHspe-HAbVE5Y_rOO6kk8KZzQSIY0Sk0XrkA3VaBl8fk1dq7m9OPgnmxY8weh8FNmEq2oJtGtUYLqOjLf9DrVOap_u5AdYqbRvNKwUr5OeU8Y7C7OY5u3lvg9uDGrm5sdWMPbuxtzby4by7bEfs_id8yKiBWINen6RvOf63-b-svoZWa5Q</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1749608470</pqid></control><display><type>article</type><title>Somatic mosaic mutations of IDH1 and NPM1 associated with cup-like acute myeloid leukemia in a patient with Maffucci syndrome</title><source>MEDLINE</source><source>SpringerLink Journals</source><creator>Akiyama, Masaharu ; Yamaoka, Masayoshi ; Mikami-Terao, Yoko ; Ohyama, Wataru ; Yokoi, Kentaro ; Arakawa, Yasuhiro ; Takita, Junko ; Suzuki, Hideaki ; Yamada, Hisashi</creator><creatorcontrib>Akiyama, Masaharu ; Yamaoka, Masayoshi ; Mikami-Terao, Yoko ; Ohyama, Wataru ; Yokoi, Kentaro ; Arakawa, Yasuhiro ; Takita, Junko ; Suzuki, Hideaki ; Yamada, Hisashi</creatorcontrib><description>Maffucci syndrome is a nonhereditary congenital disorder characterized by multiple enchondromas and with soft-tissue hemangiomas. Somatic mutations of the isocitrate dehydrogenase (
IDH
) gene have been detected in enchondroma and hemangioma tissue from patients with Maffucci syndrome. The rate of malignant transformation in Maffucci syndrome is high, with enchondromas transforming into chondrosarcomas and the development of secondary neoplasms, including pancreatic and hepatic adenocarcinoma, mesenchymal ovarian tumors, and brain tumors such as glioma. However, hematopoietic malignancies arising in Maffucci syndrome are rare. We report a 7-year-old girl with Maffucci syndrome in whom acute myeloid leukemia (AML) with cup-like nuclear invagination developed. Both leukemic cells and hemangioma had the same gene mutations: an insertion frameshift c.863_864insTCTG (p.W288 fs) in the nucleophosmin (
NPM1
) gene and a missense mutation c.392_395GTCG > CTCT (p.G131_R132 > AL) in the
IDH1
gene. However, buccal mucosa cells and peripheral blood mononuclear cells harvested after two cycles of chemotherapy showed wild-type genotypes. These results suggest that the multiple somatic mutations of the
IDH1
and
NPM1
genes in hemangioblasts are related to the development of cup-like AML associated with Maffucci syndrome. However, further studies are needed to identify additional molecular events in AML but not in hemangioma.</description><identifier>ISSN: 0925-5710</identifier><identifier>EISSN: 1865-3774</identifier><identifier>DOI: 10.1007/s12185-015-1892-z</identifier><identifier>PMID: 26508204</identifier><language>eng</language><publisher>Tokyo: Springer Japan</publisher><subject>Case Report ; Child ; Enchondromatosis - complications ; Enchondromatosis - genetics ; Genetic Association Studies ; Hemangioblasts ; Hematology ; Humans ; Isocitrate Dehydrogenase - genetics ; Leukemia, Myeloid, Acute - etiology ; Leukemia, Myeloid, Acute - genetics ; Leukemia, Myeloid, Acute - pathology ; Male ; Medicine ; Medicine & Public Health ; Mutation ; Nuclear Proteins - genetics ; Oncology</subject><ispartof>International journal of hematology, 2015-12, Vol.102 (6), p.723-728</ispartof><rights>The Japanese Society of Hematology 2015</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c466t-b3eff911fa3dffd500c33d2a1abe6a88d9ca3631049af3e18296e8c6af19b61c3</citedby><cites>FETCH-LOGICAL-c466t-b3eff911fa3dffd500c33d2a1abe6a88d9ca3631049af3e18296e8c6af19b61c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s12185-015-1892-z$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s12185-015-1892-z$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26508204$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Akiyama, Masaharu</creatorcontrib><creatorcontrib>Yamaoka, Masayoshi</creatorcontrib><creatorcontrib>Mikami-Terao, Yoko</creatorcontrib><creatorcontrib>Ohyama, Wataru</creatorcontrib><creatorcontrib>Yokoi, Kentaro</creatorcontrib><creatorcontrib>Arakawa, Yasuhiro</creatorcontrib><creatorcontrib>Takita, Junko</creatorcontrib><creatorcontrib>Suzuki, Hideaki</creatorcontrib><creatorcontrib>Yamada, Hisashi</creatorcontrib><title>Somatic mosaic mutations of IDH1 and NPM1 associated with cup-like acute myeloid leukemia in a patient with Maffucci syndrome</title><title>International journal of hematology</title><addtitle>Int J Hematol</addtitle><addtitle>Int J Hematol</addtitle><description>Maffucci syndrome is a nonhereditary congenital disorder characterized by multiple enchondromas and with soft-tissue hemangiomas. Somatic mutations of the isocitrate dehydrogenase (
IDH
) gene have been detected in enchondroma and hemangioma tissue from patients with Maffucci syndrome. The rate of malignant transformation in Maffucci syndrome is high, with enchondromas transforming into chondrosarcomas and the development of secondary neoplasms, including pancreatic and hepatic adenocarcinoma, mesenchymal ovarian tumors, and brain tumors such as glioma. However, hematopoietic malignancies arising in Maffucci syndrome are rare. We report a 7-year-old girl with Maffucci syndrome in whom acute myeloid leukemia (AML) with cup-like nuclear invagination developed. Both leukemic cells and hemangioma had the same gene mutations: an insertion frameshift c.863_864insTCTG (p.W288 fs) in the nucleophosmin (
NPM1
) gene and a missense mutation c.392_395GTCG > CTCT (p.G131_R132 > AL) in the
IDH1
gene. However, buccal mucosa cells and peripheral blood mononuclear cells harvested after two cycles of chemotherapy showed wild-type genotypes. These results suggest that the multiple somatic mutations of the
IDH1
and
NPM1
genes in hemangioblasts are related to the development of cup-like AML associated with Maffucci syndrome. However, further studies are needed to identify additional molecular events in AML but not in hemangioma.</description><subject>Case Report</subject><subject>Child</subject><subject>Enchondromatosis - complications</subject><subject>Enchondromatosis - genetics</subject><subject>Genetic Association Studies</subject><subject>Hemangioblasts</subject><subject>Hematology</subject><subject>Humans</subject><subject>Isocitrate Dehydrogenase - genetics</subject><subject>Leukemia, Myeloid, Acute - etiology</subject><subject>Leukemia, Myeloid, Acute - genetics</subject><subject>Leukemia, Myeloid, Acute - pathology</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Mutation</subject><subject>Nuclear Proteins - genetics</subject><subject>Oncology</subject><issn>0925-5710</issn><issn>1865-3774</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp1kcFqFTEUhoMo9lp9ADcScOMmmpPMJJmltNoWWhXUdcjNnGjamcl1MkFuoe9uLlNFBFcnId__n8BHyHPgr4Fz_SaDANMyDi0D0wl2-4BswKiWSa2bh2TDO9GyVgM_Ik9yvuYcNG_0Y3IkVMuN4M2G3H1Oo1uip2PK7jDKUq9pyjQFenF6DtRNPf3w6aoeck4-ugV7-jMu36kvOzbEG6TOlwXpuMchxZ4OWG5wjI7GiTq6q204LWviyoVQvI8076d-TiM-JY-CGzI-u5_H5Ov7d19Oztnlx7OLk7eXzDdKLWwrMYQOIDjZh9C3nHspe-HAbVE5Y_rOO6kk8KZzQSIY0Sk0XrkA3VaBl8fk1dq7m9OPgnmxY8weh8FNmEq2oJtGtUYLqOjLf9DrVOap_u5AdYqbRvNKwUr5OeU8Y7C7OY5u3lvg9uDGrm5sdWMPbuxtzby4by7bEfs_id8yKiBWINen6RvOf63-b-svoZWa5Q</recordid><startdate>20151201</startdate><enddate>20151201</enddate><creator>Akiyama, Masaharu</creator><creator>Yamaoka, Masayoshi</creator><creator>Mikami-Terao, Yoko</creator><creator>Ohyama, Wataru</creator><creator>Yokoi, Kentaro</creator><creator>Arakawa, Yasuhiro</creator><creator>Takita, Junko</creator><creator>Suzuki, Hideaki</creator><creator>Yamada, Hisashi</creator><general>Springer Japan</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7RV</scope><scope>7T5</scope><scope>7T7</scope><scope>7TM</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>C1K</scope><scope>CCPQU</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>H94</scope><scope>K9.</scope><scope>KB0</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope></search><sort><creationdate>20151201</creationdate><title>Somatic mosaic mutations of IDH1 and NPM1 associated with cup-like acute myeloid leukemia in a patient with Maffucci syndrome</title><author>Akiyama, Masaharu ; Yamaoka, Masayoshi ; Mikami-Terao, Yoko ; Ohyama, Wataru ; Yokoi, Kentaro ; Arakawa, Yasuhiro ; Takita, Junko ; Suzuki, Hideaki ; Yamada, Hisashi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c466t-b3eff911fa3dffd500c33d2a1abe6a88d9ca3631049af3e18296e8c6af19b61c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Case Report</topic><topic>Child</topic><topic>Enchondromatosis - complications</topic><topic>Enchondromatosis - genetics</topic><topic>Genetic Association Studies</topic><topic>Hemangioblasts</topic><topic>Hematology</topic><topic>Humans</topic><topic>Isocitrate Dehydrogenase - genetics</topic><topic>Leukemia, Myeloid, Acute - etiology</topic><topic>Leukemia, Myeloid, Acute - genetics</topic><topic>Leukemia, Myeloid, Acute - pathology</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Mutation</topic><topic>Nuclear Proteins - genetics</topic><topic>Oncology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Akiyama, Masaharu</creatorcontrib><creatorcontrib>Yamaoka, Masayoshi</creatorcontrib><creatorcontrib>Mikami-Terao, Yoko</creatorcontrib><creatorcontrib>Ohyama, Wataru</creatorcontrib><creatorcontrib>Yokoi, Kentaro</creatorcontrib><creatorcontrib>Arakawa, Yasuhiro</creatorcontrib><creatorcontrib>Takita, Junko</creatorcontrib><creatorcontrib>Suzuki, Hideaki</creatorcontrib><creatorcontrib>Yamada, Hisashi</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Nursing & Allied Health Database</collection><collection>Immunology Abstracts</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Nucleic Acids Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>MEDLINE - Academic</collection><jtitle>International journal of hematology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Akiyama, Masaharu</au><au>Yamaoka, Masayoshi</au><au>Mikami-Terao, Yoko</au><au>Ohyama, Wataru</au><au>Yokoi, Kentaro</au><au>Arakawa, Yasuhiro</au><au>Takita, Junko</au><au>Suzuki, Hideaki</au><au>Yamada, Hisashi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Somatic mosaic mutations of IDH1 and NPM1 associated with cup-like acute myeloid leukemia in a patient with Maffucci syndrome</atitle><jtitle>International journal of hematology</jtitle><stitle>Int J Hematol</stitle><addtitle>Int J Hematol</addtitle><date>2015-12-01</date><risdate>2015</risdate><volume>102</volume><issue>6</issue><spage>723</spage><epage>728</epage><pages>723-728</pages><issn>0925-5710</issn><eissn>1865-3774</eissn><abstract>Maffucci syndrome is a nonhereditary congenital disorder characterized by multiple enchondromas and with soft-tissue hemangiomas. Somatic mutations of the isocitrate dehydrogenase (
IDH
) gene have been detected in enchondroma and hemangioma tissue from patients with Maffucci syndrome. The rate of malignant transformation in Maffucci syndrome is high, with enchondromas transforming into chondrosarcomas and the development of secondary neoplasms, including pancreatic and hepatic adenocarcinoma, mesenchymal ovarian tumors, and brain tumors such as glioma. However, hematopoietic malignancies arising in Maffucci syndrome are rare. We report a 7-year-old girl with Maffucci syndrome in whom acute myeloid leukemia (AML) with cup-like nuclear invagination developed. Both leukemic cells and hemangioma had the same gene mutations: an insertion frameshift c.863_864insTCTG (p.W288 fs) in the nucleophosmin (
NPM1
) gene and a missense mutation c.392_395GTCG > CTCT (p.G131_R132 > AL) in the
IDH1
gene. However, buccal mucosa cells and peripheral blood mononuclear cells harvested after two cycles of chemotherapy showed wild-type genotypes. These results suggest that the multiple somatic mutations of the
IDH1
and
NPM1
genes in hemangioblasts are related to the development of cup-like AML associated with Maffucci syndrome. However, further studies are needed to identify additional molecular events in AML but not in hemangioma.</abstract><cop>Tokyo</cop><pub>Springer Japan</pub><pmid>26508204</pmid><doi>10.1007/s12185-015-1892-z</doi><tpages>6</tpages></addata></record> |
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| ispartof | International journal of hematology, 2015-12, Vol.102 (6), p.723-728 |
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| subjects | Case Report Child Enchondromatosis - complications Enchondromatosis - genetics Genetic Association Studies Hemangioblasts Hematology Humans Isocitrate Dehydrogenase - genetics Leukemia, Myeloid, Acute - etiology Leukemia, Myeloid, Acute - genetics Leukemia, Myeloid, Acute - pathology Male Medicine Medicine & Public Health Mutation Nuclear Proteins - genetics Oncology |
| title | Somatic mosaic mutations of IDH1 and NPM1 associated with cup-like acute myeloid leukemia in a patient with Maffucci syndrome |
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