Characterization of a patient with atypical amegakaryocytic thrombocytopenia
We report a 6‐year‐old girl with amegakaryocytic thrombocytopenia, the first case of this rare congenital disorder not to have an MPL gene mutation. Although no mutations were identified in MPL, Mpl protein was absent in the platelets and TPO induced phosphorylation of the Janus tyrosine kinase 2 (J...
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| Veröffentlicht in: | European journal of haematology 2008-04, Vol.80 (4), p.361-364 |
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| container_end_page | 364 |
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| container_title | European journal of haematology |
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| creator | Kanaji, Sachiko Kanaji, Taisuke Migita, Masahiro Kunishima, Shinji Kunicki, Thomas J. Okamura, Takashi Izuhara, Kenji |
| description | We report a 6‐year‐old girl with amegakaryocytic thrombocytopenia, the first case of this rare congenital disorder not to have an MPL gene mutation. Although no mutations were identified in MPL, Mpl protein was absent in the platelets and TPO induced phosphorylation of the Janus tyrosine kinase 2 (Jak2) was not detected. In addition to the defect of Mpl, the patient demonstrated markedly reduced expression of glycoprotein VI (GPVI) in contrast to normal expression of other platelet‐specific proteins GPIbα, GPIbβ, and GPIIb. To explore the causes for the absence of Mpl, the entire coding resion of Jak2 and AML1 were sequenced and no mutations were identified. To our knowledge, this is the first report that describes a case of amegakaryocytic thrombocytopenia that is not caused by a mutation in MPL and demonstrates the severe impairment of GPVI expression on platelets. |
| doi_str_mv | 10.1111/j.1600-0609.2008.01029.x |
| format | Article |
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Although no mutations were identified in MPL, Mpl protein was absent in the platelets and TPO induced phosphorylation of the Janus tyrosine kinase 2 (Jak2) was not detected. In addition to the defect of Mpl, the patient demonstrated markedly reduced expression of glycoprotein VI (GPVI) in contrast to normal expression of other platelet‐specific proteins GPIbα, GPIbβ, and GPIIb. To explore the causes for the absence of Mpl, the entire coding resion of Jak2 and AML1 were sequenced and no mutations were identified. 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Although no mutations were identified in MPL, Mpl protein was absent in the platelets and TPO induced phosphorylation of the Janus tyrosine kinase 2 (Jak2) was not detected. In addition to the defect of Mpl, the patient demonstrated markedly reduced expression of glycoprotein VI (GPVI) in contrast to normal expression of other platelet‐specific proteins GPIbα, GPIbβ, and GPIIb. To explore the causes for the absence of Mpl, the entire coding resion of Jak2 and AML1 were sequenced and no mutations were identified. To our knowledge, this is the first report that describes a case of amegakaryocytic thrombocytopenia that is not caused by a mutation in MPL and demonstrates the severe impairment of GPVI expression on platelets.</description><subject>3' Untranslated Regions - genetics</subject><subject>Blood Platelets - metabolism</subject><subject>Child</subject><subject>congenital amegakaryocytic thrombocytopenia</subject><subject>DNA, Complementary - genetics</subject><subject>Female</subject><subject>glycoprotein VI</subject><subject>Humans</subject><subject>Male</subject><subject>Megakaryocytes - metabolism</subject><subject>Mpl</subject><subject>Open Reading Frames - genetics</subject><subject>Pedigree</subject><subject>platelets</subject><subject>Signal Transduction</subject><subject>Thrombocytopenia - genetics</subject><subject>Thrombocytopenia - metabolism</subject><subject>thrombopoietin</subject><issn>0902-4441</issn><issn>1600-0609</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkLFOwzAQQC0EoqXwCygTW8I5cZx4YEBVoaBKLDBbju1QlyQOTqo2fD0OrWDFi-907-50D6EAQ4T9u91EmAKEQIFFMUAeAYaYRfsTNP0tnKIpMIhDQgieoIuu2wB4CGfnaIJzzAjJ8RSt5mvhhOy1M1-iN7YJbBmIoPWxbvpgZ_p1IPqhNVJUgaj1u_gQbrBy6I0M-rWzdTEmttWNEZforBRVp6-O_wy9PSxe58tw9fL4NL9fhTKhGQuTUqSqTKVkGJMiLuOMYpIqSgXTiiVKSe1vkkwoSjKNaYFTICxXqqBKaMaSGbo5zG2d_dzqrue16aSuKtFou-14BkkGGck8mB9A6WzXOV3y1pnaH8Ax8NEk3_BRGB-F8dEk_zHJ9771-rhjW9Ra_TUe1Xng7gDsTKWHfw_mi-flGCXfz_eDTw</recordid><startdate>200804</startdate><enddate>200804</enddate><creator>Kanaji, Sachiko</creator><creator>Kanaji, Taisuke</creator><creator>Migita, Masahiro</creator><creator>Kunishima, Shinji</creator><creator>Kunicki, Thomas J.</creator><creator>Okamura, Takashi</creator><creator>Izuhara, Kenji</creator><general>Blackwell Publishing Ltd</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>7X8</scope></search><sort><creationdate>200804</creationdate><title>Characterization of a patient with atypical amegakaryocytic thrombocytopenia</title><author>Kanaji, Sachiko ; Kanaji, Taisuke ; Migita, Masahiro ; Kunishima, Shinji ; Kunicki, Thomas J. ; Okamura, Takashi ; Izuhara, Kenji</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3679-3fa5df5cc9114b2f276145d66a9ed93ddce008c9ad647e16b150498ddb6dae993</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>3' Untranslated Regions - genetics</topic><topic>Blood Platelets - metabolism</topic><topic>Child</topic><topic>congenital amegakaryocytic thrombocytopenia</topic><topic>DNA, Complementary - genetics</topic><topic>Female</topic><topic>glycoprotein VI</topic><topic>Humans</topic><topic>Male</topic><topic>Megakaryocytes - metabolism</topic><topic>Mpl</topic><topic>Open Reading Frames - genetics</topic><topic>Pedigree</topic><topic>platelets</topic><topic>Signal Transduction</topic><topic>Thrombocytopenia - genetics</topic><topic>Thrombocytopenia - metabolism</topic><topic>thrombopoietin</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kanaji, Sachiko</creatorcontrib><creatorcontrib>Kanaji, Taisuke</creatorcontrib><creatorcontrib>Migita, Masahiro</creatorcontrib><creatorcontrib>Kunishima, Shinji</creatorcontrib><creatorcontrib>Kunicki, Thomas J.</creatorcontrib><creatorcontrib>Okamura, Takashi</creatorcontrib><creatorcontrib>Izuhara, Kenji</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>European journal of haematology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kanaji, Sachiko</au><au>Kanaji, Taisuke</au><au>Migita, Masahiro</au><au>Kunishima, Shinji</au><au>Kunicki, Thomas J.</au><au>Okamura, Takashi</au><au>Izuhara, Kenji</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Characterization of a patient with atypical amegakaryocytic thrombocytopenia</atitle><jtitle>European journal of haematology</jtitle><addtitle>Eur J Haematol</addtitle><date>2008-04</date><risdate>2008</risdate><volume>80</volume><issue>4</issue><spage>361</spage><epage>364</epage><pages>361-364</pages><issn>0902-4441</issn><eissn>1600-0609</eissn><abstract>We report a 6‐year‐old girl with amegakaryocytic thrombocytopenia, the first case of this rare congenital disorder not to have an MPL gene mutation. Although no mutations were identified in MPL, Mpl protein was absent in the platelets and TPO induced phosphorylation of the Janus tyrosine kinase 2 (Jak2) was not detected. In addition to the defect of Mpl, the patient demonstrated markedly reduced expression of glycoprotein VI (GPVI) in contrast to normal expression of other platelet‐specific proteins GPIbα, GPIbβ, and GPIIb. To explore the causes for the absence of Mpl, the entire coding resion of Jak2 and AML1 were sequenced and no mutations were identified. To our knowledge, this is the first report that describes a case of amegakaryocytic thrombocytopenia that is not caused by a mutation in MPL and demonstrates the severe impairment of GPVI expression on platelets.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>18194481</pmid><doi>10.1111/j.1600-0609.2008.01029.x</doi><tpages>4</tpages></addata></record> |
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| source | MEDLINE; Wiley Online Library All Journals |
| subjects | 3' Untranslated Regions - genetics Blood Platelets - metabolism Child congenital amegakaryocytic thrombocytopenia DNA, Complementary - genetics Female glycoprotein VI Humans Male Megakaryocytes - metabolism Mpl Open Reading Frames - genetics Pedigree platelets Signal Transduction Thrombocytopenia - genetics Thrombocytopenia - metabolism thrombopoietin |
| title | Characterization of a patient with atypical amegakaryocytic thrombocytopenia |
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