Trindade Arvind J, McKinley Matthew J, Alshelleh Mohammad, Levi Gabriel, Stewart Molly, Quinn Kathy J, Thomas Rebecca M
Division of Gastroenterology, Zucker School of Medicine at Hofstra/Northwell, Long Island Jewish Medical Center, Northwell Health System, New Hyde Park, New York, USA.
Division of Gastroenterology, ProHEALTH Care Associates, Lake Success, New York, USA.
BMJ Open Gastroenterol. 2019 Feb 2;6(1):e000268. doi: 10.1136/bmjgast-2018-000268. eCollection 2019.
Mutational load (ML) has been shown to help risk-stratify those that may progress from non-dysplastic Barrett's oesophagus (BE) to dysplastic disease. Management of patients with BE and indefinite for dysplasia (BE-IND) is challenging and risk stratification tools are lacking. The aim of this pilot study is to evaluate the utility of ML for risk stratification in patients with BE-IND.
This is a single-centre, retrospective pilot study evaluating ML quantification in patients with BE-IND. Histology at follow-up endoscopy at least 1 year after the baseline endoscopy was used to determine if a patient progressed to low or high dysplasia. The ML levels were then compared among patients who progressed to dysplasia versus those who did not.
Thirty-five patients who met the inclusion criteria were identified, and seven met the exclusion criteria. Twenty-eight patients were analysed, of whom eight progressed to low-grade dysplasia (6) and high-grade dysplasia (2). Seven of these eight patients had some level of genomic instability detected in their IND biopsy (ML ≥0.5). Ten of the 20 (50%) who did not progress had no ML level. At an ML cut-off above 1.5, the risk of progression to high-grade dysplasia was 33% vs 0% (p=0.005), with a sensitivity of 100% and a specificity of 85%.
These results indicate that ML may be able to risk-stratify progression to high-grade dysplasia in BE-IND. Larger studies are needed to confirm these findings.
突变负荷（ML）已被证明有助于对可能从非发育异常的巴雷特食管（BE）进展为发育异常疾病的患者进行风险分层。BE且发育异常不明确（BE-IND）患者的管理具有挑战性，且缺乏风险分层工具。本前瞻性研究的目的是评估ML在BE-IND患者风险分层中的效用。
这是一项单中心回顾性前瞻性研究，评估BE-IND患者的ML定量。在基线内镜检查后至少1年的随访内镜检查时的组织学检查用于确定患者是否进展为低度或高度发育异常。然后比较进展为发育异常的患者与未进展患者的ML水平。
确定了35例符合纳入标准的患者，7例符合排除标准。对28例患者进行了分析，其中8例进展为低度发育异常（6例）和高度发育异常（2例）。这8例患者中有7例在其IND活检中检测到一定程度的基因组不稳定（ML≥0.5）。20例未进展的患者中有10例（50%）没有ML水平。在ML临界值高于1.5时，进展为高度发育异常的风险为33%，而未进展的风险为0%（p=0.005），敏感性为100%，特异性为85%。
这些结果表明，ML可能能够对BE-IND进展为高度发育异常进行风险分层。需要更大规模的研究来证实这些发现。
