Halahleh Khalid, Alhalaseh Yazan, Al-Rimawi Dalia, Da'na Waleed, Alrabi Kamal, Kamal Nazmi, Muradi Isra, Abdel-Razeq Hikmat
Internal Medicine Department, King Hussein Cancer Center, Amman, Jordan.
Research Office, King Hussein Cancer, Amman, Jordan.
Ann Med Surg (Lond). 2021 Oct 22;72:102894. doi: 10.1016/j.amsu.2021.102894. eCollection 2021 Dec.
extramedullary acute myeloid leukemia (eAML) is characterized by extramedullary tumor formation infiltrated by myeloid blasts, with or without maturation and effaced architecture. The clinical, genetic and molecular aspects and overall outcomes are well defined worldwide, but not well characterized in our region.
This is a retrospective single center cohort study on 32 patients, who were identified over 10 years to study the clinical, pathologic and genetic-molecular aspects, and survival outcomes.
eAML is rare (1%), occurs at a younger age with male predominance. Central nervous system (CNS) with facial bone invasion is most commonly identified (34.4%). 45.5% were positive for conventional myeloid markers (MPO), CD33, CD117, and 36% positive for CD34 and CD68. 54% with normal karyotype had deleterious mutations on further testing. NGS revealed pathogenic mutations in 76%(N-9/17) and none tested positive for P53, IDH1 or IDH2. At a median follow up time of 43mo (range, 8.6-80mo); 37.5%(N-12) were in complete remission, 62.5%(N-20) relapsed. 28% of relapses were after allotransplant. 31%(N-10) alive and continued in complete remission(CR), and 69%(N-22) of patients have died.Median overall survival (OS) is 18.4 and relapse free survival (RFS) 18.7 months. OS and RFS were significantly better in patients, who attained CR after induction (IC 11.9 mo vs zero; P = 0.0001; IC 12mo vs zero; P = 0.0001) compared to patients with relapsed disease; and in patients who received allo-transplant consolidation with median OS and RFS 42 vs 8.5mo (P = 0.002) and 42months vs 10 mo (P = 0.006). Thus allotransplant may be considered for all eligible patients in first CR.
achievement of complete remission after induction therapy is associated with improved outcomes in eAML. Allotransplant in first complete remission may be the most effective modality for achieving long-term remissions.
髓外急性髓系白血病（eAML）的特征是髓系母细胞浸润形成髓外肿瘤，有或无成熟现象且结构消失。其临床、遗传和分子方面以及总体预后在全球范围内已有明确界定，但在我们地区尚未得到充分描述。
这是一项对32例患者进行的回顾性单中心队列研究，这些患者是在10年期间确定的，旨在研究其临床、病理和遗传分子方面以及生存结果。
eAML较为罕见（1%），发病年龄较轻，男性居多。最常见的是中枢神经系统（CNS）伴面部骨侵犯（34.4%）。45.5%的患者常规髓系标志物（MPO）、CD33、CD117呈阳性，36%的患者CD34和CD68呈阳性。54%核型正常的患者在进一步检测时有有害突变。二代测序（NGS）显示76%（N = 9/17）有致病突变，且无一例P53、异柠檬酸脱氢酶1（IDH1）或异柠檬酸脱氢酶2（IDH2）检测呈阳性。中位随访时间为43个月（范围8.6 - 80个月）；37.5%（N = 12）达到完全缓解，62.5%（N = 20）复发。28%的复发发生在异基因移植后。31%（N = 10）存活并持续完全缓解（CR），69%（N = 22）的患者死亡。中位总生存期（OS）为18.4个月，无复发生存期（RFS）为18.7个月。与复发患者相比，诱导治疗后达到CR的患者的OS和RFS显著更好（诱导后CR患者的OS为11.9个月，复发患者为0；P = 0.0001；诱导后CR患者的RFS为12个月，复发患者为0；P = 0.0001）；接受异基因移植巩固治疗的患者的中位OS和RFS分别为42个月和8.5个月（P = 0.002）以及42个月和10个月（P = 0.006）。因此，对于所有符合条件的首次完全缓解患者可考虑进行异基因移植。
诱导治疗后达到完全缓解与eAML患者预后改善相关。首次完全缓解时进行异基因移植可能是实现长期缓解的最有效方式。
