费城染色体阴性急性髓系白血病复发后出现费城染色体1例报道并文献复习

Acute myeloid leukemia with a late-appearing Philadelphia chromosome:a case report and literature review

费城染色体由9号和22号染色体易位形成特征性Ph染色体和具有酪氨酸激酶活性的BCR-ABL融合蛋白,是慢性粒细胞白血病的重要细胞遗传学标志。此外,Ph染色体也常见于高危急性淋巴细胞白血病。急性髓系白血病(acute myeloid leukemia,AML)患者出现Ph染色体临床上十分罕见,检出率仅约0.5%~3.0%[1-3]。Ph阳性AML发生率较低,缓解率低,预后差。Ph阴性AML复发为Ph阳性AML极为罕见.

To improve the understanding and experience of the rare disease of Philadelphia chromosome appearing during recurrence of Ph-negative acute myeloid leukemia(AML),a case of 66-year-old male AML-M5 patient achieved complete remission after induction by DA regimen,but relapsed after 5 cycles of consolidation chemotherapy was studied.Chromosomal analysis showed the appearance of a Philadelphia chromosome and FISH studies revealed the BCR-ABL rearrangement.Imatinib was given orally,combined with lenalidomide,human recombinant interferon alpha-1 b and interleukin-2.The patient died of pulmonary infection.Late-appearing Philadelphia chromosome was associated with poor prognosis,playing a role in clonal evolution and disease progression.Tyrosine kinase inhibitors could benefit patients as a salvage treatment for AML with a late-appearing Philadelphia chromosome.