Pediatric CML is very rare. Before the introduction of tyrosine kinase inhibitors (TKIs), allogeneic hematopoietic stem cell transplantation (HSCT) from a donor -if available- was the standard cure attempt. Data on the long-term outcome and health-related quality of life (HRQOL) in former pediatric CML patients undergoing HSCT are lacking.

We investigated long-term survivors’ self-reporting to a questionnaire sent out to patients formerly enrolled in pediatric CML-HSCT trials.

Individuals with CML transplanted at age <18 years were identified from the German Childhood Cancer Registry database. Long-term survivors received a questionnaire based on the SF-36 and FACT-BMT asking them to self-report HRQOL issues. (Ethical vote #541_20 B, Medical Faculty, University of Erlangen-Nürnberg).

111/171 (64.9%) individuals survived HSCT long-term and 86/111 (77.5%) fulfilled all inclusion criteria and received the questionnaire. 37/86 (43%) participants (24 female, 13 male, median age at HSCT 12 years [range 2-18], median age at the time of the survey 29 years [range 18-43]) responded after a median follow-up period of 19 years (range 4-27) after HSCT. 10/37 (27%) participants underwent no regular medical follow-up examinations. Self-reported symptoms like chronic graft-versus-host disease (cGvHD)-associated organ impairments and conditioning regimen consequences could causatively not sharply be separated in each case. Complains comprised hypothyroidism (N=11, 30%), infertility (N=9, 24%), lung problems, dry eyes (each N=7, 19%), skin alterations (N=6, 17%), hair problems (N=4, 11%), and sexual dysfunction (N=3, 9%). 10 (27%) participants experienced 13 CML relapses after a median interval from HSCT of 31 months (range 2-93). Only one patient underwent 2nd SCT after failure of relapse treatment with TKIs. Six secondary malignancies (dysplastic melanocytic nevus and ALL, basal cell carcinoma (N=2), rhabdomyosarcoma, and thyroid carcinoma developed in 5 (13%) participants. As assessed by the SF-36 questionnaire, impaired physical health was mainly associated with cGvHD. The mental component summary score showed that also participants without cGvHD scored significantly lower than the general population. When assessed by the FACT-BMT, participants with cGvHD scored significantly lower while participants without cGvHD scored even 5 points higher than the data from controls. 18 (49%) participants considered the sequelae of HSCT an obstacle to education. Out of the total cohort, N=20 (54%), N=7 (19%), N=5 (14%), and N=4 (11%) participants worked full time, part-time, were unemployed, or had not yet finalized their education, respectively. 20 (54%) participants lived as singles, 8 (22%) lived in a partnership, 6 (16%) were married, and 3 (8%) had been divorced. Four (11%) participants reported a total number of 7 children.

This first assessment of HRQOL in former pediatric patients with CML surviving HSCT for more than two decades demonstrates self-reported satisfactory well-being only in the absence of cGvHD. Research-based on self-reported outcomes sheds light on former patients’ perspectives and provides an additional layer of valuable knowledge for pediatric and adult hematologists. Regular follow-up examinations are mandatory helping to avoid that late secondary neoplasias, CML-relapse, and disorders forming the broad range of possible long-term consequences of HSCT are not detected too late.

小儿 CML 非常罕见。在引入酪氨酸激酶抑制剂 (TKI) 之前，来自供体的同种异体造血干细胞移植 (HSCT)（如果有的话）是标准的治愈尝试。缺乏接受 HSCT 的前儿科 CML 患者的长期结果和健康相关生活质量 (HRQOL) 的数据。

我们调查了长期幸存者对发送给以前参加儿科 CML-HSCT 试验的患者的问卷的自我报告。

从德国儿童癌症登记数据库中识别出在年龄 <18 岁时接受 CML 移植的个体。长期幸存者收到一份基于 SF-36 和 FACT-BMT 的调查问卷，要求他们自我报告 HRQOL 问题。（道德投票 #541_20 B，埃尔兰根-纽伦堡大学医学院）。

111/171 (64.9%) 人在 HSCT 中长期存活，86/111 (77.5%) 人满足所有纳入标准并收到问卷。37/86 (43%) 参与者（24 名女性，13 名男性，HSCT 时的中位年龄为 12 岁 [范围 2-18]，调查时的中位年龄为 29 岁 [范围 18-43]） HSCT 后 19 年（范围 4-27）的上升期。10/37 (27%) 参与者没有接受定期医疗随访检查。自我报告的症状，如慢性移植物抗宿主病 (cGvHD) 相关的器官损伤和预处理方案的后果，在每种情况下可能无法明确区分。抱怨包括甲状腺功能减退症 (N=11, 30%)、不孕症 (N=9, 24%)、肺部问题、眼睛干涩 (每个 N=7, 19%)、皮肤改变 (N=6, 17%)、头发问题(N=4, 11%) 和性功能障碍 (N=3, 9%)。10 名 (27%) 参与者在 HSCT 的中位间隔 31 个月（范围 2-93）后经历了 13 次 CML 复发。只有一名患者在 TKIs 复发治疗失败后接受了第二次 SCT。5 名 (13%) 参与者发生了六种继发性恶性肿瘤（发育不良的黑色素细胞痣和 ALL、基底细胞癌 (N=2)、横纹肌肉瘤和甲状腺癌）。根据 SF-36 问卷评估，身体健康受损主要与 cGvHD 有关. 心理成分总分显示，没有 cGvHD 的参与者得分也显着低于一般人群。当通过 FACT-BMT 评估时，有 cGvHD 的参与者得分显着较低，而没有 cGvHD 的参与者得分甚至比对照组的数据高 5 分。18 (49%) 参与者认为 HSCT 的后遗症是教育的障碍。在整个队列中，N=20 (54%)、N=7 (19%)、N=5 (14%) 和 N=4 (11%) 参与者全职、兼职、失业，或尚未完成他们的教育。20 名 (54%) 参与者单身，8 名 (22%) 与伴侣生活，6 名 (16%) 已婚，3 名 (8%) 离婚。四名 (11%) 参与者报告共有 7 名儿童。

这项对 HSCT 后存活 20 多年的前 CML 儿科患者的 HRQOL 的首次评估表明，只有在没有 cGvHD 的情况下，自我报告的幸福感才令人满意。基于自我报告结果的研究揭示了以前患者的观点，并为儿科和成人血液学家提供了额外的有价值的知识。定期随访检查是强制性的，有助于避免晚期继发性肿瘤、CML 复发和形成 HSCT 的广泛可能长期后果的疾病未被发现为时已晚。