Identification of rare atypical BCR-ABL1 transcript: A case report
CML is characterized by the presence of a BCR-ABL1 fusion transcript. Several guidelines have been published for its detection and molecular monitoring. Here, a case is described of chronic myeloid leukemia presenting in the blast phase with a rare variant transcript, with a discussion on possible r...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2023-07-01
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| Series: | Indian Journal of Pathology and Microbiology |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/ijpm.ijpm_715_21 |
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| _version_ | 1825206057372221440 |
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| author | Jayesh Saha Vipin Gopinath Chandran K. Nair Deepak Roshan |
| author_facet | Jayesh Saha Vipin Gopinath Chandran K. Nair Deepak Roshan |
| author_sort | Jayesh Saha |
| collection | DOAJ |
| description | CML is characterized by the presence of a BCR-ABL1 fusion transcript. Several guidelines have been published for its detection and molecular monitoring. Here, a case is described of chronic myeloid leukemia presenting in the blast phase with a rare variant transcript, with a discussion on possible red flags in its detection and genetic testing and description of the patient's clinical characteristics. This case highlights the pitfalls of using real-time quantitative reverse-transcription polymerase chain reaction (RQ-PCR) for diagnosis of CML, especially when the clinical picture and the test results are discordant. |
| format | Article |
| id | doaj-art-130b096a418b43178bc5862603185676 |
| institution | Kabale University |
| issn | 0377-4929 |
| language | English |
| publishDate | 2023-07-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Pathology and Microbiology |
| spelling | doaj-art-130b096a418b43178bc58626031856762025-02-07T13:35:03ZengWolters Kluwer Medknow PublicationsIndian Journal of Pathology and Microbiology0377-49292023-07-0166362462610.4103/ijpm.ijpm_715_21Identification of rare atypical BCR-ABL1 transcript: A case reportJayesh SahaVipin GopinathChandran K. NairDeepak RoshanCML is characterized by the presence of a BCR-ABL1 fusion transcript. Several guidelines have been published for its detection and molecular monitoring. Here, a case is described of chronic myeloid leukemia presenting in the blast phase with a rare variant transcript, with a discussion on possible red flags in its detection and genetic testing and description of the patient's clinical characteristics. This case highlights the pitfalls of using real-time quantitative reverse-transcription polymerase chain reaction (RQ-PCR) for diagnosis of CML, especially when the clinical picture and the test results are discordant.https://journals.lww.com/10.4103/ijpm.ijpm_715_21atypical variantcmlmolecular testingrq-pcr |
| spellingShingle | Jayesh Saha Vipin Gopinath Chandran K. Nair Deepak Roshan Identification of rare atypical BCR-ABL1 transcript: A case report Indian Journal of Pathology and Microbiology atypical variant cml molecular testing rq-pcr |
| title | Identification of rare atypical BCR-ABL1 transcript: A case report |
| title_full | Identification of rare atypical BCR-ABL1 transcript: A case report |
| title_fullStr | Identification of rare atypical BCR-ABL1 transcript: A case report |
| title_full_unstemmed | Identification of rare atypical BCR-ABL1 transcript: A case report |
| title_short | Identification of rare atypical BCR-ABL1 transcript: A case report |
| title_sort | identification of rare atypical bcr abl1 transcript a case report |
| topic | atypical variant cml molecular testing rq-pcr |
| url | https://journals.lww.com/10.4103/ijpm.ijpm_715_21 |
| work_keys_str_mv | AT jayeshsaha identificationofrareatypicalbcrabl1transcriptacasereport AT vipingopinath identificationofrareatypicalbcrabl1transcriptacasereport AT chandranknair identificationofrareatypicalbcrabl1transcriptacasereport AT deepakroshan identificationofrareatypicalbcrabl1transcriptacasereport |