CBFB Break-Apart FISH Testing: An Analysis of 1629 AML Cases with a Focus on Atypical Findings and Their Implications in Clinical Diagnosis and Management
Fluorescence in situ hybridization (FISH) is a confirmatory test to establish a diagnosis of inv(16)/t(16;16) AML. However, incidental findings and their clinical diagnostic implication have not been systemically studied. We studied 1629 CBFB FISH cases performed in our institution, 262 (16.1%), 123...
Guardado en:
| Autores principales: | , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
MDPI AG
2021
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/e574dae0bf48403aa1f3b9fd1c82d0bc |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| Sumario: | Fluorescence in situ hybridization (FISH) is a confirmatory test to establish a diagnosis of inv(16)/t(16;16) AML. However, incidental findings and their clinical diagnostic implication have not been systemically studied. We studied 1629 CBFB FISH cases performed in our institution, 262 (16.1%), 1234 (75.7%), and 133 (8.2%) were reported as positive, normal, and abnormal, respectively. The last included <i>CBFB</i> copy number changes (<i>n</i> = 120) and atypical findings such as 3′CBFB deletion (<i>n</i> = 11), 5′CBFB deletion (<i>n</i> = 1), and 5′<i>CBFB</i> gain (<i>n</i> = 1). Correlating with <i>CBFB-MYH11</i> RT-PCR results, totally 271 <i>CBFB</i> rearrangement cases were identified, including five with discrepancies between FISH and RT-PCR due to new partner genes (<i>n</i> = 3), insertion (<i>n</i> = 1), or rare <i>CBFB-MYH11</i> variant (<i>n</i> = 1) and eight with <i>3′CBFB</i> deletion. All cases with atypical findings and/or discrepancies presented clinical diagnostic challenges. Correlating FISH signal patterns and karyotypes, additional chromosome 16 aberrations (AC16As) show impacts on the re-definition of a complex karyotype and prognostic prediction. The <i>CBFB</i> rearrangement but not all AC16As will be detected by NGS-based methods. Therefore, FISH testing is currently still needed to provide a quick and straightforward confirmatory inv(16)/t(16;16) AML diagnosis and additional information related to clinical management. |
|---|