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髓系肿瘤下一代测序检测项目排序的优化标准

Optimization criteria for ordering myeloid neoplasm next-generation sequencing.

作者信息

Gisriel Savanah D, Howe John G, Tormey Christopher A, Torres Richard, Hager Karl M, Rinder Henry M, Siddon Alexa J

机构信息

Department of Pathology Yale School of Medicine New Haven Connecticut USA.

Department of Laboratory Medicine Yale School of Medicine New Haven Connecticut USA.

出版信息

EJHaem. 2024 Oct 23;5(6):1236-1242. doi: 10.1002/jha2.1036. eCollection 2024 Dec.

DOI:10.1002/jha2.1036
PMID:39691272
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11647727/
Abstract

INTRODUCTION

Myeloid neoplasms (MNs) frequently harbor pathogenic mutations not detected by karyotyping and fluorescence in situ hybridization; hence, next-generation sequencing (NGS) is necessary for diagnosis, risk stratification, and therapy. If, however, NGS is not clinically indicated but still performed, the results may promote futile avenues of investigation, heighten patient distress, and increase cost.

METHODS

We created criteria to approve NGS testing for MN (MN-NGS) with the goal of maximizing actionable results. These actionable results include making a new MN diagnosis, characterizing a MN with baseline mutational status, and altering treatment plans. Approval criteria included clinical suspicion of new, relapsed, or worsening disease and end-of-induction chemotherapy. Cancellation criteria included the suspicion of non-myeloid disease only, no suspicion of progression of a known MN, no evidence for recurrence post-transplant, a diagnosis of chronic myeloid leukemia, and cases using blood when a concurrent bone marrow NGS is being performed. We applied these criteria to NGS tests ordered at our institution between August and December 2018 and determined whether any tests meeting our cancelation criteria yielded actionable results.

RESULTS

Consecutive MN-NGS orders ( = 174) were retrospectively categorized as appropriate (Group A,  = 115), inappropriate (Group B,  = 29), and appropriately canceled (group C,  = 30). Seventy-five of the 115 (65%) Group A tests and none of the 29 (0%) Group B tests yielded actionable results ( < 0.0001).

CONCLUSION

Approximately one third (59/174) of MN-NGS test orders can be safely canceled using these criteria, which would result in $150,370 of Centers for Medicare and Medicaid Services-reimbursed savings annually.

摘要

引言

髓系肿瘤(MNs)常常存在核型分析和荧光原位杂交未检测到的致病性突变;因此,下一代测序(NGS)对于诊断、风险分层和治疗是必要的。然而,如果NGS在临床上并无指征但仍被实施,其结果可能会推动无意义的研究途径,加剧患者痛苦,并增加成本。

方法

我们制定了批准MN的NGS检测(MN-NGS)的标准,目标是使可采取行动的结果最大化。这些可采取行动的结果包括做出新的MN诊断、确定具有基线突变状态的MN以及改变治疗方案。批准标准包括临床怀疑新的、复发的或病情恶化的疾病以及诱导化疗结束时的情况。取消标准包括仅怀疑非髓系疾病、不怀疑已知MN进展、移植后无复发证据、慢性髓系白血病诊断以及在同时进行骨髓NGS时使用血液样本的情况。我们将这些标准应用于2018年8月至12月在我们机构订购的NGS检测,并确定是否有任何符合我们取消标准的检测产生了可采取行动的结果。

结果

连续的MN-NGS订单(n = 174)被回顾性分类为适当(A组,n = 115)、不适当(B组,n = 29)和适当取消(C组,n = 30)。115例A组检测中有75例(65%)产生了可采取行动的结果,而29例B组检测中无一例(0%)产生可采取行动的结果(P < 0.0001)。

结论

使用这些标准,大约三分之一(59/174)的MN-NGS检测订单可以安全取消,这将每年节省150,370美元的医疗保险和医疗补助服务中心报销费用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6aa/11647727/62bc5aad17b8/JHA2-5-1236-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6aa/11647727/3962ee563312/JHA2-5-1236-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6aa/11647727/c5d055446067/JHA2-5-1236-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6aa/11647727/cc2d58fee0e1/JHA2-5-1236-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6aa/11647727/62bc5aad17b8/JHA2-5-1236-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6aa/11647727/3962ee563312/JHA2-5-1236-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6aa/11647727/c5d055446067/JHA2-5-1236-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6aa/11647727/cc2d58fee0e1/JHA2-5-1236-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d6aa/11647727/62bc5aad17b8/JHA2-5-1236-g004.jpg

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