Limited Utility of Fluorescence In Situ Hybridization for Recurrent Abnormalities in Acute Myeloid Leukemia at Diagnosis and Follow-up
Limited Utility of Fluorescence In Situ Hybridization for Recurrent Abnormalities in Acute Myeloid Leukemia at Diagnosis and Follow-up
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DOI：
10.1093/ajcp/aqy002
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发表时间：
2018-05-01
影响因子：
3.5
通讯作者：
Seegmiller, Adam C.
中科院分区：
文献类型：
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作者：
Wheeler, Ferrin C.;Kim, Annette S.;Seegmiller, Adam C.
急性髓性白血病（AML）的分类部分取决于复发性细胞遗传学异常，通常通过荧光原位杂交（FISH）和核型检测。本研究的目的是评估FISH和核型在诊断和随访中的应用。诊断或随访时的成人AML样本核型和FISH进行了鉴定。确定一致性，并评估不一致结果的临床特征和结果。203例诊断标本中，193例（95.0%）核型与FISH结果一致。10例FISH检出异常，但核型正常。其中1例FISH结果具有临床意义。在随访中，211例患者中有17例（8.1%）fish阳性结果不一致；大多数符合低水平残留疾病。核型和AML FISH之间的临床显著不一致是罕见的。因此，FISH测试可以安全地从大多数这些样品中省略。有针对性的FISH检测在随访中更有用，用于最小残留疾病检测。
Acute myeloid leukemia (AML) is classified in part by recurrent cytogenetic abnormalities, often detected by both fluorescent in situ hybridization (FISH) and karyotype. The goal of this study was to assess the utility of FISH and karyotyping at diagnosis and follow-up.Adult AML samples at diagnosis or follow-up with karyotype and FISH were identified. Concordance was determined, and clinical characteristics and outcomes for discordant results were evaluated.Karyotype and FISH results were concordant in 193 (95.0%) of 203 diagnostic samples. In 10 cases, FISH detected an abnormality, but karyotype was normal. Of these, one had a FISH result with clinical significance. In follow-up cases, 17 (8.1%) of 211 showed FISH-positive discordant results; most were consistent with low-level residual disease.Clinically significant discordance between karyotype and AML FISH is uncommon. Consequently, FISH testing can safely be omitted from most of these samples. Focused FISH testing is more useful at follow-up, for minimal residual disease detection.