Clinical Analysis on Myeloid and Lymphoid Neoplasms with t (4; 22) Induced Abnormalities of the Platelet-derived Growth Factor Receptor Alpha_West China Medical Journal

Authors：

CUI Juya , MENG Wentong , LU Zhongping ,  ZHU HuanLing

Department of Hematology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, P. R. China;

Corresponding author：

ZHU HuanLing, Email: kaoyan.cui@163.com

Keywords：

染色体易位，t(4; 22); 髓系肿瘤; 血小板源性生长因子受体α

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【摘要】　目的　观察t(4; 22)致血小板源性生长因子受体α（the platelet-derived growth factor receptor alpha， PDGFRA）异常的髓系/淋巴系肿瘤的临床特点。　方法　对2010年6月收治的1例t(4; 22)致PDGFRA异常的髓系/淋巴系肿瘤患者的临床资料进行回顾性分析，并对其临床特点、实验室检查、诊断、治疗进行总结。　结果　该疾病临床表现及骨髓涂片检查类似慢性粒细胞白血病（chronic myelogenous leukemia，CML），但无CML特征性Ph染色体和（或）BCR/ABL融合基因，而细胞遗传学检测显示4号与22号染色体易位，诊断为t(4; 22)致PDGFRA异常的髓系/淋巴系肿瘤。采用羟基脲及干扰素治疗后可获得完全血液学缓解。　结论　 t(4; 22)致PDGFRA异常的髓系/淋巴系肿瘤是一类罕见疾病，临床表现与CML相似，t(4; 22)及BCR/PDGFRA融合基因阳性是诊断该类疾病的关键。
【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.

Citation： CUI Juya,MENG Wentong,LU Zhongping,ZHU HuanLing. Clinical Analysis on Myeloid and Lymphoid Neoplasms with t (4; 22) Induced Abnormalities of the Platelet-derived Growth Factor Receptor Alpha. West China Medical Journal, 2011, 26(4): 524-527. doi: Copy

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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. 　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. 　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. 　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. 　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. 　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. 　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. 　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. 　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.

West China Medical Journal

Clinical Analysis on Myeloid and Lymphoid Neoplasms with t (4; 22) Induced Abnormalities of the Platelet-derived Growth Factor Receptor Alpha

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