Cumbo Cosimo, Tarantini Francesco, Zagaria Antonella, Anelli Luisa, Minervini Crescenzio Francesco, Coccaro Nicoletta, Tota Giuseppina, Impera Luciana, Parciante Elisa, Conserva Maria Rosa, Redavid Immacolata, Carluccio Paola, Delia Mario, Giordano Annamaria, Longo Maria Chiara, Perrone Tommasina, Rossi Antonella Russo, Specchia Giorgina, Musto Pellegrino, Albano Francesco
Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology and Stem Cell Transplantation Unit, University of Bari "Aldo Moro", Bari, Italy.
School of Medicine, University of Bari "Aldo Moro", Bari, Italy.
Front Oncol. 2022 Apr 12;12:873896. doi: 10.3389/fonc.2022.873896. eCollection 2022.
Inflammatory bowel diseases (IBDs) are a group of chronic conditions of the gastrointestinal tract in which nationwide studies have revealed a higher risk of hematological malignancies (HMs). Clonal hematopoiesis (CH) is a premalignant condition defined by the presence of an acquired somatic mutation characterized by a variant allele frequency (VAF) of ≥2%, in a gene frequently associated with HMs. A growing body of evidence suggests a correlation between inflammation and CH; its occurrence in the context of IBD has been previously demonstrated. With the aim to assess CH possible co-occurrence in patients with an IBD associated with HMs, we performed a targeted next-generation sequencing analysis in a cohort of thirteen patients who were referred to our center with IBD associated with HMs. Eleven (85%) patients showed one or more mutations in CH-associated genes; was the most frequently mutated gene, followed by and These results may suggest that the mechanisms at the basis of the inflammatory environment could potentially select for the growth of hematopoietic clones harboring specific mutations. In this context, CH emergence may be boosted by the proinflammatory IBD environment, thus acting as a biological link between IBD and the HM onset. If these data are confirmed, IBD patients screened and positive for CH should undergo a hematologic follow-up to assess the risk of developing HM. Future study will clarify the relationship between these conditions.
炎症性肠病（IBD）是一组胃肠道慢性疾病，全国性研究显示其患血液系统恶性肿瘤（HM）的风险更高。克隆性造血（CH）是一种癌前状态，由在一个与HM频繁相关的基因中存在获得性体细胞突变所定义，该突变的变异等位基因频率（VAF）≥2%。越来越多的证据表明炎症与CH之间存在关联；此前已证明其在IBD背景下的发生情况。为了评估CH在与HM相关的IBD患者中可能的共现情况，我们对13名因与HM相关的IBD转诊至我们中心的患者进行了靶向二代测序分析。11名（85%）患者在CH相关基因中出现了一个或多个突变； 是最常发生突变的基因，其次是 和 这些结果可能表明，炎症环境背后的机制可能会促使携带特定突变的造血克隆生长。在这种情况下，促炎的IBD环境可能会促进CH的出现，从而成为IBD与HM发病之间的生物学联系。如果这些数据得到证实，筛查出CH呈阳性的IBD患者应接受血液学随访，以评估发生HM的风险。未来的研究将阐明这些疾病之间的关系。
