دورية أكاديمية
Pitfalls of using polymerase chain reaction–based assays for JAK2 and CALR exon 9 variant testing in myeloproliferative neoplasms: Knowing when to go the extra mile!
| العنوان: | Pitfalls of using polymerase chain reaction–based assays for JAK2 and CALR exon 9 variant testing in myeloproliferative neoplasms: Knowing when to go the extra mile! |
|---|---|
| المؤلفون: | Krishnamurthy, Kritika, Chai, Jiani, Wang, Yanhua, Naeem, Rizwan, Goldstein, D Yitzchak |
| المصدر: | American Journal of Clinical Pathology ; volume 161, issue 2, page 155-161 ; ISSN 0002-9173 1943-7722 |
| بيانات النشر: | Oxford University Press (OUP) |
| سنة النشر: | 2023 |
| الوصف: | Objectives The BCR::ABL1 negative myeloproliferative neoplasms are sequentially tested for JAK2 p.V617F, followed by CALR exon 9 pathogenic variants. Historically, these variants were thought to be mutually exclusive. However, recent reports indicate coexisting JAK2 p.V617F and CALR exon 9 somatic variants. Methods Analysis of JAK2 p.V617F and CALR exon 9 variant was performed by polymerase chain reaction (PCR)–based assays. Subsequent testing was performed on the Genexus integrated sequencer (ThermoFisher) using the Oncomine myeloid assay GX v2. Results CALR exon 9 variants were positive in 3 cases, while 2 were positive for JAK2 p.V617F on PCR-based assays. Next-generation sequencing confirmed the JAK2 P.V617F status in all cases. CALR variants resulting in in-frame deletions were identified in 2 cases at a variant allele frequency of 52.16% and 50.91%, while the third case had an intronic CALR variant c.-48G>A at a variant allele frequency of 51.1%. Thus, CALR variants in all 3 cases were interpreted as potentially germline. Of the 228 cases that underwent JAK2 p.V617F and CALR cotesting in the past 2 years, only these 2 cases were positive for both JAK2 p.V617F and CALR exon 9 variants. Conclusions These cases highlight the importance of understanding the pitfalls of molecular techniques in current practice. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1093/ajcp/aqad122 |
| الإتاحة: | https://doi.org/10.1093/ajcp/aqad122Test https://academic.oup.com/ajcp/article-pdf/161/2/155/56529304/aqad122.pdfTest |
| حقوق: | https://academic.oup.com/pages/standard-publication-reuse-rightsTest |
| رقم الانضمام: | edsbas.20F9D2E5 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1093/ajcp/aqad122 |
|---|