JAK2遺伝子変異の関与が疑われた非硬変性門脈血栓症に伴う肝外門脈閉塞症の1例
症例は48歳の男性．5年前の健診で食道静脈瘤（LmF2CbRC0Lg-）を指摘され，精査にて悪性腫瘍や肝硬変症の合併を認めず，門脈本幹部血栓，肝門部海綿状血管増生，脾腫が確認され，非硬変性門脈血栓症に伴う肝外門脈閉塞症と診断された．5年の経過で門脈血栓，食道胃静脈瘤（LsF3CbRC2LgcF2）は増悪し，予防的に内視鏡的硬化療法を施行した．慢性骨髄増殖性疾患を疑い施行した骨髄生検では慢性骨髄増殖性疾患の合併は否定的であったが，血液検査にてJanus activating kinase 2のV617F遺伝子変異（JAK2変異）が確認されたことから，JAK2変異が門脈血栓症に関与したと考えられた...
Saved in:
| Published in | 肝臓 Vol. 55; no. 3; pp. 170 - 175 |
|---|---|
| Main Authors | , , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
一般社団法人 日本肝臓学会
2014
|
| Subjects | |
| Online Access | Get full text |
| ISSN | 0451-4203 1881-3593 |
| DOI | 10.2957/kanzo.55.170 |
Cover
| Abstract | 症例は48歳の男性．5年前の健診で食道静脈瘤（LmF2CbRC0Lg-）を指摘され，精査にて悪性腫瘍や肝硬変症の合併を認めず，門脈本幹部血栓，肝門部海綿状血管増生，脾腫が確認され，非硬変性門脈血栓症に伴う肝外門脈閉塞症と診断された．5年の経過で門脈血栓，食道胃静脈瘤（LsF3CbRC2LgcF2）は増悪し，予防的に内視鏡的硬化療法を施行した．慢性骨髄増殖性疾患を疑い施行した骨髄生検では慢性骨髄増殖性疾患の合併は否定的であったが，血液検査にてJanus activating kinase 2のV617F遺伝子変異（JAK2変異）が確認されたことから，JAK2変異が門脈血栓症に関与したと考えられた．本症例では5年の経過中，脾腫に比して血小板数が正常域値内に保たれていた．明らかな基礎疾患が指摘されない門脈血栓症に伴う肝外門脈閉塞症ではJAK2変異が存在する可能性について考慮する必要がある． |
|---|---|
| AbstractList | 症例は48歳の男性．5年前の健診で食道静脈瘤（LmF2CbRC0Lg-）を指摘され，精査にて悪性腫瘍や肝硬変症の合併を認めず，門脈本幹部血栓，肝門部海綿状血管増生，脾腫が確認され，非硬変性門脈血栓症に伴う肝外門脈閉塞症と診断された．5年の経過で門脈血栓，食道胃静脈瘤（LsF3CbRC2LgcF2）は増悪し，予防的に内視鏡的硬化療法を施行した．慢性骨髄増殖性疾患を疑い施行した骨髄生検では慢性骨髄増殖性疾患の合併は否定的であったが，血液検査にてJanus activating kinase 2のV617F遺伝子変異（JAK2変異）が確認されたことから，JAK2変異が門脈血栓症に関与したと考えられた．本症例では5年の経過中，脾腫に比して血小板数が正常域値内に保たれていた．明らかな基礎疾患が指摘されない門脈血栓症に伴う肝外門脈閉塞症ではJAK2変異が存在する可能性について考慮する必要がある． |
| Author | 足立, 清太郎 吹田, 洋將 糸林, 詠 石橋, 啓如 片倉, 芳樹 横須賀, 收 |
| Author_xml | – sequence: 1 fullname: 片倉, 芳樹 organization: 聖隷横浜病院消化器内科 – sequence: 1 fullname: 石橋, 啓如 organization: 千葉大学大学院医学研究院腫瘍内科 – sequence: 1 fullname: 横須賀, 收 organization: 千葉大学大学院医学研究院腫瘍内科 – sequence: 1 fullname: 吹田, 洋將 organization: 聖隷横浜病院消化器内科 – sequence: 1 fullname: 糸林, 詠 organization: 国保旭中央病院消化器内科 – sequence: 1 fullname: 足立, 清太郎 organization: 聖隷横浜病院消化器内科 |
| BookMark | eNo9kDtPwlAAhW8MJiKy-TeK99nHZAjxTeKic3PpbZWHYAqLTpQYlUh8xFgnUAyJg0ocHIwh_pm2lP4LEYzLOcN3coZvHsTKlbIJwCKCKawxZanIy8eVFGMppMAZEEeqiiTCNBIDcUgZkiiGZA4kq9V8DkIsK1DTcBwUN9NbOHK-_EE7eLsOes3w7t1z-pH75H9eek4rdG-8xpXXaHnOQ9TuhN3X8WZYf47c-ujkfNStDx9vw_szz3nxBx-eczpqtIOeO6WR2wy6nQntI__7YgHMWrxUNZN_nQC7qys7mXUpu722kUlnpQKmCpS4qpgaEUgIgahFNFnFskVkU1iCUqIiQjFTKDZyhiqYaXGomZhjlqNIGKpsQZIAy9PfQrXG90z90M4fcPtI53Ytb5RMfWJKZ0wnvzHW9U-MfW7rBU5-ACqniTI |
| ContentType | Journal Article |
| Copyright | 2014 一般社団法人 日本肝臓学会 |
| Copyright_xml | – notice: 2014 一般社団法人 日本肝臓学会 |
| DOI | 10.2957/kanzo.55.170 |
| DatabaseTitleList | |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine |
| EISSN | 1881-3593 |
| EndPage | 175 |
| ExternalDocumentID | article_kanzo_55_3_55_170_article_char_ja |
| GroupedDBID | ALMA_UNASSIGNED_HOLDINGS CS3 JSF KQ8 OK1 P2P RJT |
| ID | FETCH-LOGICAL-j2470-a87e93d1ddd14f396826f36edfd443813425742cbc8d5efa09e2a25b41dc86f03 |
| ISSN | 0451-4203 |
| IngestDate | Wed Sep 03 06:29:56 EDT 2025 |
| IsDoiOpenAccess | true |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 3 |
| Language | Japanese |
| LinkModel | OpenURL |
| MergedId | FETCHMERGED-LOGICAL-j2470-a87e93d1ddd14f396826f36edfd443813425742cbc8d5efa09e2a25b41dc86f03 |
| OpenAccessLink | https://www.jstage.jst.go.jp/article/kanzo/55/3/55_170/_article/-char/ja |
| PageCount | 6 |
| ParticipantIDs | jstage_primary_article_kanzo_55_3_55_170_article_char_ja |
| PublicationCentury | 2000 |
| PublicationDate | 20140000 |
| PublicationDateYYYYMMDD | 2014-01-01 |
| PublicationDate_xml | – year: 2014 text: 20140000 |
| PublicationDecade | 2010 |
| PublicationTitle | 肝臓 |
| PublicationTitleAlternate | 肝臓 |
| PublicationYear | 2014 |
| Publisher | 一般社団法人 日本肝臓学会 |
| Publisher_xml | – name: 一般社団法人 日本肝臓学会 |
| References | 7) Dentali F, Squizzato A, Brivio L, et al. JAK2V617F mutation for the early diagnosis of Ph- myeloproliferative neoplasms in patients with venous thromboembolism: a meta-analysis. Blood 2009; 113: 5617-5623 10) Rebours V, Boudaoud L, Vullierme MP, et al. Extrahepatic portal venous system thrombosis in recurrent acute and chronic alcoholic pancreatitis is caused by local inflammation and not thrombophilia. Am J Gastroenterol 2012; 107: 1579-1585 14) 荒木直子, 瀧本理修, 千葉大樹, 他. 上腸間膜静脈・門脈血栓症を発症したJAK2変異を伴った真性多血症. 臨床血液 2007; 48: 554-558 8) Kiladjian JJ, Cervantes F, Leebeek FW, et al. The impact of JAK2 and MPL mutations on diagnosis and prognosis of splanchnic vein thrombosis: a report on 241 cases. Blood 2008; 111: 4922-4929 2) Michiels JJ, Bernema Z, Van Bockstaele D, et al. Current diagnostic criteria for the chronic myeloproliferative disorders (MPD) essential thrombocythemia (ET), polycythemia vera (PV) and chronic idiopathic myelofibrosis (CIMF). Pathol Biol (Paris) 2007; 55: 92-104 6) Yonal I, Pinarbasi B, Hindilerden F, et al. The clinical significance of JAK2V617F mutation for Philadelphia-negative chronic myeloproliferative neoplasms in patients with splanchnic vein thrombosis. J Thromb Thrombolysis 2012; 34: 388-396 9) Kvasnicka HM, Thiele J. Prodromal myeloproliferative neoplasms: the 2008 WHO classification. Am J Hematol 2010; 85: 62-69 15) Marchetti M, Castoldi E, Spronk HM, et al. Thrombin generation and activated protein C resistance in patients with essential thrombocythemia and polycythemia vera. Blood 2008; 112: 4061-4068 12) Hurtado-Nedelec M, Csillag-Grange MJ, Boussetta T, et al. Increased reactive oxygen species production and p47phox phosphorylation in neutrophils from myeloproliferative disorders patients with JAK2 (V617F) mutation. Haematologica 2013; 98: 1517-1524 16) Hoekstra J, Bresser EL, Smalberg JH, et al. Long-term follow-up of patients with portal vein thrombosis and myeloproliferative neoplasms. J Thromb Haemost 2011; 9: 2208-2214 3) Primignani M, Barosi G, Bergamaschi G, et al. Role of the JAK2 mutation in the diagnosis of chronic myeloproliferative disorders in splanchnic vein thrombosis. Hepatology 2006; 44: 1528-1534 17) 松下 正, 鈴木伸明. 凝固線溶系JAK2変異と血栓症 (解説). Annual Review血液 2013; 2013: 209-213 4) Valla D, Casadevall N, Huisse MG, et al. Etiology of portal vein thrombosis in adults. A prospective evaluation of primary myeloproliferative disorders. Gastroenterology 1988; 94: 1063-1069 5) Smalberg JH, Arends LR, Valla DC, et al. Myeloproliferative neoplasms in Budd-Chiari syndrome and portal vein thrombosis: a meta-analysis. Blood 2012; 120: 4921-4928 1) Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005; 352: 1779-1790 11) Witthuhn BA, Quelle FW, Silvennoinen O, et al. JAK2 associates with the erythropoietin receptor and is tyrosine phosphorylated and activated following stimulation with erythropoietin. Cell 1993; 74: 227-236 13) 脇 正人, 川上公宏, 中藤流以. 上腸間膜静脈・門脈血栓症を合併したJAK2V617F変異を有する慢性骨髄単球性白血病. 香川県内科医会誌 2012; 48: 44-49 |
| References_xml | – reference: 2) Michiels JJ, Bernema Z, Van Bockstaele D, et al. Current diagnostic criteria for the chronic myeloproliferative disorders (MPD) essential thrombocythemia (ET), polycythemia vera (PV) and chronic idiopathic myelofibrosis (CIMF). Pathol Biol (Paris) 2007; 55: 92-104 – reference: 11) Witthuhn BA, Quelle FW, Silvennoinen O, et al. JAK2 associates with the erythropoietin receptor and is tyrosine phosphorylated and activated following stimulation with erythropoietin. Cell 1993; 74: 227-236 – reference: 3) Primignani M, Barosi G, Bergamaschi G, et al. Role of the JAK2 mutation in the diagnosis of chronic myeloproliferative disorders in splanchnic vein thrombosis. Hepatology 2006; 44: 1528-1534 – reference: 15) Marchetti M, Castoldi E, Spronk HM, et al. Thrombin generation and activated protein C resistance in patients with essential thrombocythemia and polycythemia vera. Blood 2008; 112: 4061-4068 – reference: 8) Kiladjian JJ, Cervantes F, Leebeek FW, et al. The impact of JAK2 and MPL mutations on diagnosis and prognosis of splanchnic vein thrombosis: a report on 241 cases. Blood 2008; 111: 4922-4929 – reference: 14) 荒木直子, 瀧本理修, 千葉大樹, 他. 上腸間膜静脈・門脈血栓症を発症したJAK2変異を伴った真性多血症. 臨床血液 2007; 48: 554-558 – reference: 13) 脇 正人, 川上公宏, 中藤流以. 上腸間膜静脈・門脈血栓症を合併したJAK2V617F変異を有する慢性骨髄単球性白血病. 香川県内科医会誌 2012; 48: 44-49 – reference: 1) Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005; 352: 1779-1790 – reference: 5) Smalberg JH, Arends LR, Valla DC, et al. Myeloproliferative neoplasms in Budd-Chiari syndrome and portal vein thrombosis: a meta-analysis. Blood 2012; 120: 4921-4928 – reference: 9) Kvasnicka HM, Thiele J. Prodromal myeloproliferative neoplasms: the 2008 WHO classification. Am J Hematol 2010; 85: 62-69 – reference: 17) 松下 正, 鈴木伸明. 凝固線溶系JAK2変異と血栓症 (解説). Annual Review血液 2013; 2013: 209-213 – reference: 4) Valla D, Casadevall N, Huisse MG, et al. Etiology of portal vein thrombosis in adults. A prospective evaluation of primary myeloproliferative disorders. Gastroenterology 1988; 94: 1063-1069 – reference: 16) Hoekstra J, Bresser EL, Smalberg JH, et al. Long-term follow-up of patients with portal vein thrombosis and myeloproliferative neoplasms. J Thromb Haemost 2011; 9: 2208-2214 – reference: 12) Hurtado-Nedelec M, Csillag-Grange MJ, Boussetta T, et al. Increased reactive oxygen species production and p47phox phosphorylation in neutrophils from myeloproliferative disorders patients with JAK2 (V617F) mutation. Haematologica 2013; 98: 1517-1524 – reference: 6) Yonal I, Pinarbasi B, Hindilerden F, et al. The clinical significance of JAK2V617F mutation for Philadelphia-negative chronic myeloproliferative neoplasms in patients with splanchnic vein thrombosis. J Thromb Thrombolysis 2012; 34: 388-396 – reference: 7) Dentali F, Squizzato A, Brivio L, et al. JAK2V617F mutation for the early diagnosis of Ph- myeloproliferative neoplasms in patients with venous thromboembolism: a meta-analysis. Blood 2009; 113: 5617-5623 – reference: 10) Rebours V, Boudaoud L, Vullierme MP, et al. Extrahepatic portal venous system thrombosis in recurrent acute and chronic alcoholic pancreatitis is caused by local inflammation and not thrombophilia. Am J Gastroenterol 2012; 107: 1579-1585 |
| SSID | ssib002670992 ssib000940394 ssib002670224 ssib058493441 ssj0069113 ssib005879686 ssib002484534 |
| Score | 1.990755 |
| Snippet | 症例は48歳の男性．5年前の健診で食道静脈瘤（LmF2CbRC0Lg-）を指摘され，精査にて悪性腫瘍や肝硬変症の合併を認めず，門脈本幹部血栓，肝門部海綿状血管増生，脾腫が確... |
| SourceID | jstage |
| SourceType | Publisher |
| StartPage | 170 |
| SubjectTerms | JAK2遺伝子変異 肝外門脈閉塞症 門脈圧亢進症 門脈血栓症 食道静脈瘤 |
| Title | JAK2遺伝子変異の関与が疑われた非硬変性門脈血栓症に伴う肝外門脈閉塞症の1例 |
| URI | https://www.jstage.jst.go.jp/article/kanzo/55/3/55_170/_article/-char/ja |
| Volume | 55 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| ispartofPNX | 肝臓, 2014/03/20, Vol.55(3), pp.170-175 |
| journalDatabaseRights | – providerCode: PRVAFT databaseName: Colorado Digital library customDbUrl: eissn: 1881-3593 dateEnd: 99991231 omitProxy: true ssIdentifier: ssj0069113 issn: 0451-4203 databaseCode: KQ8 dateStart: 19600101 isFulltext: true titleUrlDefault: http://grweb.coalliance.org/oadl/oadl.html providerName: Colorado Alliance of Research Libraries |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3NaxQxFB9KBfEifuI3PZjj1MlMMkmOM9sppaIgtNDbMjuze9hCK9JePHWLqMXiB-J6arVS8KAWDx5Eiv_M7na7_4XvJZnutPRQexmyye-9vLyXnbwXXjKOcxevPPGkyNyUprnLVEO4StVCNxUsrVMlaspkWzwMp2bZ9ByfGxn1SllLy0u18ezpsedKTmNVqAO74inZ_7DsAVOogDLYF55gYXieyMbT0X2fJAq8QRJHJGEkrhA1QRJOogmiPF0AX1GRRBDFSQw1AYKjBKlUSCJfU0kiE9skKxocEkV1jU_kZFGoWIya1OTQRYLgCBhWSn2FmD0RCdsFlBPgD00SCwDGGujaIyrQfQkiRSFYbEcRs0KeUJP7xbgY8jyGs6lRGkOtYIc4J1SzToiMyw55ibtEtDp4DyIHYIgcOPYFZZiOGhaRONBjkCRWZTxoxrYAYWzwHFWPQwXJQER_iNcMogiFB20Y_QA5ZmMiIdgABA6HeI42jY01GVrTwkBZ0FmiDWz9CruPQ4c7uIWhjdKkNplAfYJKkHNMIi05CADyIjjSk0rLY0wG-oy4LlQ0-VHN2YkHo7RTMSotM4xTl_meUW_dLINSUjfgVuV2nTTXKdv3QVBa9Kj59Iv1n6j5Es7RpdlX-nvS8xDxLI5zPn5AdOiyc_tXqmpYlfNqgA_AVosWPIxYbUJEdMbHHThMw3hUCigU84LyhgWTjAflDQeBTuuh36qUV8ClUOHwQkXwzlWgAwbj24XgGuiclUJn5igNju1eeWTgzjYhuCsSQ7WvOnPBOW-DzLHIDOaiM9JMLzlnH9g0msvOPL44Bq0_3d2N3o-3ve21_oefndbOoP2l-_t1p7Xeb7_rrL7prK53Wp8GG5v9re-A2Vv5Omiv7D97ub-1svf5ff_ji07rW3f3V6f1fH91o7fdNq2D9lpva1O37tDu31dXnNnJZKYy5dqvrrhNnwnPTaWoqyCneZ5T1ghAHX7YCMJ63sgZ3gcY4CrP_KyWyZzXG6mn6n7q8xqjeSbDhhdcdUYXFhfq15yxTKQ5zYTIIYhjoiFlmHGRZdRPOZVpjV93pFFT9bG5Wqd6YvvfOD3pTecc_v_MPuotZ3TpyXL9NkQWS7U7ejL9AzDj70E |
| linkProvider | Colorado Alliance of Research Libraries |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=JAK2%E9%81%BA%E4%BC%9D%E5%AD%90%E5%A4%89%E7%95%B0%E3%81%AE%E9%96%A2%E4%B8%8E%E3%81%8C%E7%96%91%E3%82%8F%E3%82%8C%E3%81%9F%E9%9D%9E%E7%A1%AC%E5%A4%89%E6%80%A7%E9%96%80%E8%84%88%E8%A1%80%E6%A0%93%E7%97%87%E3%81%AB%E4%BC%B4%E3%81%86%E8%82%9D%E5%A4%96%E9%96%80%E8%84%88%E9%96%89%E5%A1%9E%E7%97%87%E3%81%AE1%E4%BE%8B&rft.jtitle=%E8%82%9D%E8%87%93&rft.au=%E7%89%87%E5%80%89%2C+%E8%8A%B3%E6%A8%B9&rft.au=%E7%9F%B3%E6%A9%8B%2C+%E5%95%93%E5%A6%82&rft.au=%E6%A8%AA%E9%A0%88%E8%B3%80%2C+%E6%94%B6&rft.au=%E5%90%B9%E7%94%B0%2C+%E6%B4%8B%E5%B0%87&rft.date=2014&rft.pub=%E4%B8%80%E8%88%AC%E7%A4%BE%E5%9B%A3%E6%B3%95%E4%BA%BA%E3%80%80%E6%97%A5%E6%9C%AC%E8%82%9D%E8%87%93%E5%AD%A6%E4%BC%9A&rft.issn=0451-4203&rft.eissn=1881-3593&rft.volume=55&rft.issue=3&rft.spage=170&rft.epage=175&rft_id=info:doi/10.2957%2Fkanzo.55.170&rft.externalDocID=article_kanzo_55_3_55_170_article_char_ja |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0451-4203&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0451-4203&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0451-4203&client=summon |