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Abstract：
BACKGROUND: The role of familial influence in chronic myeloid leukaemia (CML) occurrence is less defined. Previously, we conducted a study to determine the prevalence of harbouring BCR::ABL1 in our local adult normal population (designated as StudyN). We present our current study, which investigated the prevalence of harbouring BCR::ABL1 in the normal first-degree relatives of local CML patients (designated as StudyR). We compared and discussed the prevalence of StudyR and StudyN to assess the familial influence in CML occurrence.
METHODS: StudyR was a cross-sectional study using convenience sampling, recruiting first-degree relatives of local CML patients aged ≥ 18 years old without a history of haematological tumour. Real-time quantitative polymerase chain reaction standardised at the International Scale (BCR::ABL1-qPCRIS) was performed according to standard laboratory practice and the manufacturer\'s protocol.
RESULTS: A total of 96 first-degree relatives from 41 families, with a mean age of 39 and a male-to-female ratio of 0.88, were enrolled and analysed. The median number of relatives per family was 2 (range 1 to 5). Among them, 18 (19%) were parents, 39 (41%) were siblings, and 39 (41%) were offspring of the CML patients. StudyR revealed that the prevalence of harbouring BCR::ABL1 in the first-degree relatives was 4% (4/96), which was higher than the prevalence in the local normal population from StudyN, 0.5% (1/190). All four positive relatives were Chinese, with three of them being female (p > 0.05). Their mean age was 39, compared to 45 in StudyN. The BCR::ABL1-qPCRIS levels ranged between 0.0017%IS and 0.0071%IS, similar to StudyN (0.0023%IS to 0.0032%IS) and another study (0.006%IS to 0.016%IS).
CONCLUSIONS: Our study showed that the prevalence of harbouring BCR::ABL1 in the first-degree relatives of known CML patients was higher than the prevalence observed in the normal population. This suggests that familial influence in CML occurrence might exist but could be surpassed by other more dominant influences, such as genetic dilutional effects and protective genetic factors. The gender and ethnic association were inconsistent with CML epidemiology, suggestive of a higher familial influence in female and Chinese. Further investigation into this topic is warranted, ideally through larger studies with longer follow-up periods.
METHODS: StudyR was a cross-sectional study using convenience sampling, recruiting first-degree relatives of local CML patients aged ≥ 18 years old without a history of haematological tumour. Real-time quantitative polymerase chain reaction standardised at the International Scale (BCR::ABL1-qPCRIS) was performed according to standard laboratory practice and the manufacturer\'s protocol.
RESULTS: A total of 96 first-degree relatives from 41 families, with a mean age of 39 and a male-to-female ratio of 0.88, were enrolled and analysed. The median number of relatives per family was 2 (range 1 to 5). Among them, 18 (19%) were parents, 39 (41%) were siblings, and 39 (41%) were offspring of the CML patients. StudyR revealed that the prevalence of harbouring BCR::ABL1 in the first-degree relatives was 4% (4/96), which was higher than the prevalence in the local normal population from StudyN, 0.5% (1/190). All four positive relatives were Chinese, with three of them being female (p > 0.05). Their mean age was 39, compared to 45 in StudyN. The BCR::ABL1-qPCRIS levels ranged between 0.0017%IS and 0.0071%IS, similar to StudyN (0.0023%IS to 0.0032%IS) and another study (0.006%IS to 0.016%IS).
CONCLUSIONS: Our study showed that the prevalence of harbouring BCR::ABL1 in the first-degree relatives of known CML patients was higher than the prevalence observed in the normal population. This suggests that familial influence in CML occurrence might exist but could be surpassed by other more dominant influences, such as genetic dilutional effects and protective genetic factors. The gender and ethnic association were inconsistent with CML epidemiology, suggestive of a higher familial influence in female and Chinese. Further investigation into this topic is warranted, ideally through larger studies with longer follow-up periods.
摘要：
背景：家族性影响在慢性髓性白血病（CML）发生中的作用尚不明确。以前,我们进行了一项研究,以确定我们当地成年正常人群(命名为StudyN)中携带BCR::ABL1的患病率.我们提出了我们目前的研究，调查了当地CML患者（命名为StudyR）的正常一级亲属中BCR::ABL1的患病率。我们比较并讨论了StudyR和StudyN的患病率，以评估CML发生的家族性影响。
方法：StudyR是一项使用方便抽样的横断面研究，招募年龄≥18岁无血液肿瘤病史的当地CML患者的一级亲属。根据标准实验室实践和制造商的方案进行国际规模标准化的实时定量聚合酶链反应(BCR::ABL1-qPCRIS)。
结果：共有来自41个家庭的96名一级亲属，研究对象的平均年龄为39岁,男女比例为0.88.每个家庭的亲属中位数为2（范围为1至5）。其中,18人（19%）是父母，39人（41%）是兄弟姐妹，39例(41%)是CML患者的后代。StudyR显示，一级亲属中BCR::ABL1的患病率为4％（4/96），高于StudyN当地正常人群的患病率，0.5%（1/190）。四个阳性亲属都是中国人,其中三个是女性（p>0.05）。他们的平均年龄为39岁，而StudyN为45岁。BCR::ABL1-qPCRIS水平介于0.0017%IS和0.0071%IS之间，与StudyN(0.0023%IS至0.0032%IS)和另一项研究(0.006%IS至0.016%IS)相似。
结论：我们的研究表明，在已知CML患者的一级亲属中，携带BCR::ABL1的患病率高于在正常人群中观察到的患病率。这表明CML发生的家族影响可能存在，但可能被其他更主要的影响所超越，如遗传稀释效应和保护性遗传因素。性别和种族关系与CML流行病学不一致，暗示女性和中国人的家族影响力更高。有必要对这个话题进行进一步的调查，理想情况下，通过更大的研究和更长的随访期。
方法：StudyR是一项使用方便抽样的横断面研究，招募年龄≥18岁无血液肿瘤病史的当地CML患者的一级亲属。根据标准实验室实践和制造商的方案进行国际规模标准化的实时定量聚合酶链反应(BCR::ABL1-qPCRIS)。
结果：共有来自41个家庭的96名一级亲属，研究对象的平均年龄为39岁,男女比例为0.88.每个家庭的亲属中位数为2（范围为1至5）。其中,18人（19%）是父母，39人（41%）是兄弟姐妹，39例(41%)是CML患者的后代。StudyR显示，一级亲属中BCR::ABL1的患病率为4％（4/96），高于StudyN当地正常人群的患病率，0.5%（1/190）。四个阳性亲属都是中国人,其中三个是女性（p>0.05）。他们的平均年龄为39岁，而StudyN为45岁。BCR::ABL1-qPCRIS水平介于0.0017%IS和0.0071%IS之间，与StudyN(0.0023%IS至0.0032%IS)和另一项研究(0.006%IS至0.016%IS)相似。
结论：我们的研究表明，在已知CML患者的一级亲属中，携带BCR::ABL1的患病率高于在正常人群中观察到的患病率。这表明CML发生的家族影响可能存在，但可能被其他更主要的影响所超越，如遗传稀释效应和保护性遗传因素。性别和种族关系与CML流行病学不一致，暗示女性和中国人的家族影响力更高。有必要对这个话题进行进一步的调查，理想情况下，通过更大的研究和更长的随访期。
