8p11 myeloid proliferative syndrome with BCR-FGFR1 fusion gene rearrangement progresses to acute B-lymphoblastic leukemia——a case report and literature review
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摘要: 目的 提高对罕见8p11骨髓增殖综合征的认识和诊疗水平。方法 对收治的1例8p11骨髓增殖综合征进展为急性B淋巴细胞白血病患者的临床表现、实验室检查及诊疗经过，并结合复习国内外相关文献进行分析。结果 患者早期发病临床表现及相关骨髓检查表现类似于慢性粒细胞白血病，呈骨髓增殖性疾病表现，结合患者染色体提示t(8；22)(p11；q11)，FISH检测证实FGFR1基因重排阳性，并排除BCR-ABL重排，证实BCR-FGFR1融合基因阳性，确诊为伴BCR-FGFR1融合基因重排的8p11骨髓增殖综合征。因患者拒绝早期造血干细胞移植治疗，给予第3代TKI联合干扰素治疗后患者疾病短期维持在慢性期近1年，后患者因高血压控制不佳停药，疾病快速进展为急性B淋巴细胞白血病。结合国内外文献报道，伴BCR-FGFR1融合基因重排的8p11骨髓增殖综合征，临床罕见，预后均较慢性粒细胞白血病以及骨髓增殖性疾病差，多短期内出现快速进展。结论 伴BCR-FGFR1融合基因重排的8p11骨髓增殖综合征是一种罕见的血液系统恶性肿瘤，具有高度侵袭性，且疾病进展迅速，目前早期无统一有效治疗方法。且该病早期易漏诊，需尽早完善染色体及FISH检测证实FGFR1基因重排基础上进一步确诊，早期及时诊断及干预治疗尤其重要，第3代TKI有潜在短暂抑制疾病进展作用的可能。
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关键词:
- 8p11骨髓增殖综合征 /
- t(8;22)(p11;q11) /
- 急性B淋巴细胞白血病 /
- FGFR1重排 /
- BCR-FGFR1融合基因
Abstract: Objective To improve the understanding, diagnosis and treatment of rare 8p11 myeloid proliferative syndrome.Methods The clinical manifestations, laboratory examination and diagnosis and treatment of a patient with 8p11 myeloid proliferative syndrome progressing to acute B-lymphoblastic leukemia admitted to our hospital were analyzed by reviewing relevant domestic and foreign literatures.Results The clinical manifestations of the early onset of the patient and the related bone marrow examination were similar to that of chronic myelogenous leukemia, presenting a myeloproliferative disease.Karyotype analysis showed t(8;22)(p11;q11). FISH test confirmed positive FGFR1 gene rearrangement, and excluded BCR-ABL rearrangement, and then confirmed positive BCR-FGFR1 fusion gene. Confirmed 8p11 myeloid proliferative syndrome with BCR-FGFR1 fusion gene rearrangement was diagnosed. Since The patient refused the treatment of early hematopoietic stem cell transplantation and his disease remained in the chronic stage for nearly 1 year after receiving the third-generation TKI combined with interferon therapy. Later, the patient's disease rapidly progressed to acute B-lymphoblastic leukemia due to drug withdrawal(because of poor hypertension control). Combined with domestic and foreign literature reports, 8p11 myeloproliferative syndrome with BCR-FGFR1 fusion gene rearrangement is rare in clinic, and its prognosis is worse than chronic myelogenous leukemia and myeloproliferative diseases, with rapid progress occurring in a short period of time.Conclusion 8p11 myeloid proliferative syndrome with BCR-FGFR1 fusion gene rearrangement is a rare hematological malignancy with highly feature and rapid disease progression. Currently, there is no unified and effective treatment at the early stage. In addition, the disease is easy to be missed at early stage, so it is necessary to take chromosome and FISH tests as soon as possible to confirm FGFR1 gene rearrangement. Early and timely diagnosis and intervention are particularly important, and the third generation TKI may temporarily inhibit the progression of the disease. -
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