• 四川大學(xué)華西醫(yī)院血液科（成都，610041）;

【摘要】　目的　 觀察t(4; 22)致血小板源性生長因子受體α（the platelet-derived growth factor receptor alpha， PDGFRA）異常的髓系/淋巴系腫瘤的臨床特點(diǎn)。　方法　 對2010年6月收治的1例t(4; 22)致PDGFRA異常的髓系/淋巴系腫瘤患者的臨床資料進(jìn)行回顧性分析，并對其臨床特點(diǎn)、實(shí)驗(yàn)室檢查、診斷、治療進(jìn)行總結(jié)。　結(jié)果　 該疾病臨床表現(xiàn)及骨髓涂片檢查類似慢性粒細(xì)胞白血?。╟hronic myelogenous leukemia，CML），但無CML特征性Ph染色體和（或）BCR/ABL融合基因，而細(xì)胞遺傳學(xué)檢測顯示4號與22號染色體易位，診斷為t(4; 22)致PDGFRA異常的髓系/淋巴系腫瘤。采用羥基脲及干擾素治療后可獲得完全血液學(xué)緩解。　結(jié)論　 t(4; 22)致PDGFRA異常的髓系/淋巴系腫瘤是一類罕見疾病，臨床表現(xiàn)與CML相似，t(4; 22)及BCR/PDGFRA融合基因陽性是診斷該類疾病的關(guān)鍵。
【Abstract】　Objective　 To observe the clinical features of myeloid and lymphoid neoplasms with t (4; 22) induced abnormalities of the platelet-derived growth factor receptor alpha (PDGFRA) to increase the identification and reduce the misdiagnosis. 　Methods　 The clinical data of one patient with myeloid and lymphoid neoplasm with t (4; 22) induced abnormalities of PDGFRA diagnosed in June 2010 was retrospectively analyzed. We summarized the clinical features, morphology, genetics, diagnostic criteria and therapy about this kind of disease.　Results　 The patient had a clinical manifestation and bone marrow smear result of chronic myelogenous leukemia (CML). But the result of genetic analysis found no translocation of chromosomes 9 and 22 juxtaposing BCR and ABL gens. Cytogenetic analysis showed an abnormal karyotype with rearrangement of chromosomes 4 and 22. So the patient was diagnosed myeloid and lymphoid neoplasms with t (4; 22) induced abnormalities of PDGFRA. After receiving interferon and hydroxyurea, the patient achieved complete hematologic remission.　Conclusion　 Myeloid and lymphoid neoplasms with t (4; 22) induced abnormalities of PDGFRA is a rare kind of disease. Its clinical feature is similar to that of CML. The key of diagnosis is genetics.

引用本文： 崔菊亞,孟文彤,盧忠平,朱煥玲. t(4;22)致血小板源性生長因子受體α異常的髓系/淋巴系腫瘤臨床分析. 華西醫(yī)學(xué), 2011, 26(4): 524-527. doi: 復(fù)制

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9. 　Kawagishi J, Kumabe T, Yoshimoto T, et al. Structure, organization, and transription of the human platelet-derived growth factor receptor gene, PDGFRA[J]. Genomics, 1995, 30(2): 224-232.
10. 　Claesson-Welsh L, Hammacher A, Westermark B, et al. Identification and structural analysis of the A type receptor for platelet-derived growth factor: similarities with the B type receptor[J]. J Biol Chem, 1898, 264: 1742-1747.
11. 　Irusta PM, Luo Y, Bakht O, et al. Definition of an inhibitory juxtamembrane WW-like domain in the platelet-derived growth factor B receptor[J]. J Biol Chem, 2002, 277: 38627-38634.
12. 　Chan PM, Subbaraj I, Rose JL, et al. Autoinhibition of the KIT receptor tyrosine kinase by the cytosolic juxtamembrane region[J]. Mol CellBiol, 2003, 23(9): 3067 -3078.
  1. 1. 　Swerdlow SH, Campo E, Harris NH, et al. WHO classification of tumours of haematopoietic and lymphoid tissues[M]. 4th ed. Lyon: International Agency for Research on Cancer, 2008: 68-71.
  2. 2. 　Jaffe ES, Harris NL, Stein H, et al. World Health Organization classification of tumours. Pathology and genetics of tumours of haematopoietic and lymphoid tissues[M]. 3th ed. Lyon: International Agency for Research on Cancer, 2001: 16-59.
  3. 3. 　Trempat P, Villalva C, Laurent G, et al. Chronic myeloproliferative disorders with rearrangement of the platelet-derived growth factor alpha receptor: a new clinical target for STI571/Glivec[J]. Oncogene, 2003, 22: 5702-5706.
  4. 4. 　Safley AM, Sebastian S, Collins TS, et al. Molecular and cytogenetic characterization of a novel translocation t(4;22) involving the breakpoint cluster region and platelet-derived growth factor receptor-alpha genes in a patient with atypical chronic myeloid leukemia[J]. Gen Chromo Can, 2004, 40(1): 4-50.
  5. 5. 　Neumann F, Poelitz A, Hildebrandt B, et al. The tyrosine-kinase inhibitor imatinib induces long-term remission in a patient with chronic myelogenous leukemia with translocation t(4;22)[J]. Leukemia, 2007, 21: 836-837.
  6. 6. 　Baxter EJ, Hochhaus A, Bolufer P, et al. The t(4;22)(q12;q11) in atypical chronic myeloid leukemiafuses BCR to PDGFRA[J]. Hum Mol Genet, 2002, 11(12): 1391-1397.
  7. 7. 　Preudhomme C, Guilhot J, Nicolini FE, et al. Imatinib plus peginterferon alfa-2a in chronic myeloid leukemia[J]. N Engl J Med, 2010, 363(26): 2511-2521.
  8. 8. 　An X, Tiwari AK, Sun Y, et al. BCR-ABL tyrosine kinase inhibitors in the treatment of Philadelphia chromosome positive chronic myeloid leukemia: a review[J]. Leuk Res, 2010, 34(10): 1255-1268.
  9. 9. 　Kawagishi J, Kumabe T, Yoshimoto T, et al. Structure, organization, and transription of the human platelet-derived growth factor receptor gene, PDGFRA[J]. Genomics, 1995, 30(2): 224-232.
  10. 10. 　Claesson-Welsh L, Hammacher A, Westermark B, et al. Identification and structural analysis of the A type receptor for platelet-derived growth factor: similarities with the B type receptor[J]. J Biol Chem, 1898, 264: 1742-1747.
  11. 11. 　Irusta PM, Luo Y, Bakht O, et al. Definition of an inhibitory juxtamembrane WW-like domain in the platelet-derived growth factor B receptor[J]. J Biol Chem, 2002, 277: 38627-38634.
  12. 12. 　Chan PM, Subbaraj I, Rose JL, et al. Autoinhibition of the KIT receptor tyrosine kinase by the cytosolic juxtamembrane region[J]. Mol CellBiol, 2003, 23(9): 3067 -3078.