Molecular Monitoring in Adult Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia with the Variant e13a3 BCR-ABL1 Fusion
Monitoring BCR-ABL1 transcript levels in patients with Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL) is a widely adopted method to assess response to therapy. However, a small minority of Ph+ ALL patients express variant BCR-ABL1 transcript types, usually due to splicing of...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2019-01-01
|
| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2019/9635070 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832548550797426688 |
|---|---|
| author | Mireille Crampe Laura Kearney David O’Brien C. Larry Bacon Derville O’Shea Stephen E. Langabeer |
| author_facet | Mireille Crampe Laura Kearney David O’Brien C. Larry Bacon Derville O’Shea Stephen E. Langabeer |
| author_sort | Mireille Crampe |
| collection | DOAJ |
| description | Monitoring BCR-ABL1 transcript levels in patients with Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL) is a widely adopted method to assess response to therapy. However, a small minority of Ph+ ALL patients express variant BCR-ABL1 transcript types, usually due to splicing of alternative BCR or ABL1 exons. Whether patients expressing these rare, variant BCR-ABL1 transcripts have a distinct phenotype or response to therapy is not known due to the limited number of reported cases. Here, we report the presenting features of Ph+ ALL in a young adult with a variant e13a3 BCR-ABL1 fusion. Molecular monitoring reflected the disease response from diagnosis through allogeneic stem cell transplantation which resulted in undetectable e13a3 BCR-ABL1 transcripts. This case highlights the value of molecular monitoring in Ph+ ALL patients with variant BCR-ABL1 transcripts and the requirement for standardization of such assays. |
| format | Article |
| id | doaj-art-7960a0cc258f48a09144a1de16a37370 |
| institution | Kabale University |
| issn | 2090-6560 2090-6579 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Hematology |
| spelling | doaj-art-7960a0cc258f48a09144a1de16a373702025-02-03T06:13:41ZengWileyCase Reports in Hematology2090-65602090-65792019-01-01201910.1155/2019/96350709635070Molecular Monitoring in Adult Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia with the Variant e13a3 BCR-ABL1 FusionMireille Crampe0Laura Kearney1David O’Brien2C. Larry Bacon3Derville O’Shea4Stephen E. Langabeer5Cancer Molecular Diagnostics, St. James’s Hospital, Dublin 8, IrelandCancer Molecular Diagnostics, St. James’s Hospital, Dublin 8, IrelandDepartment of Haematology, St. James’s Hospital, Dublin 8, IrelandDepartment of Haematology, St. James’s Hospital, Dublin 8, IrelandDepartment of Haematology, Cork University Hospital, Cork, IrelandCancer Molecular Diagnostics, St. James’s Hospital, Dublin 8, IrelandMonitoring BCR-ABL1 transcript levels in patients with Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL) is a widely adopted method to assess response to therapy. However, a small minority of Ph+ ALL patients express variant BCR-ABL1 transcript types, usually due to splicing of alternative BCR or ABL1 exons. Whether patients expressing these rare, variant BCR-ABL1 transcripts have a distinct phenotype or response to therapy is not known due to the limited number of reported cases. Here, we report the presenting features of Ph+ ALL in a young adult with a variant e13a3 BCR-ABL1 fusion. Molecular monitoring reflected the disease response from diagnosis through allogeneic stem cell transplantation which resulted in undetectable e13a3 BCR-ABL1 transcripts. This case highlights the value of molecular monitoring in Ph+ ALL patients with variant BCR-ABL1 transcripts and the requirement for standardization of such assays.http://dx.doi.org/10.1155/2019/9635070 |
| spellingShingle | Mireille Crampe Laura Kearney David O’Brien C. Larry Bacon Derville O’Shea Stephen E. Langabeer Molecular Monitoring in Adult Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia with the Variant e13a3 BCR-ABL1 Fusion Case Reports in Hematology |
| title | Molecular Monitoring in Adult Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia with the Variant e13a3 BCR-ABL1 Fusion |
| title_full | Molecular Monitoring in Adult Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia with the Variant e13a3 BCR-ABL1 Fusion |
| title_fullStr | Molecular Monitoring in Adult Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia with the Variant e13a3 BCR-ABL1 Fusion |
| title_full_unstemmed | Molecular Monitoring in Adult Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia with the Variant e13a3 BCR-ABL1 Fusion |
| title_short | Molecular Monitoring in Adult Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia with the Variant e13a3 BCR-ABL1 Fusion |
| title_sort | molecular monitoring in adult philadelphia chromosome positive acute lymphoblastic leukemia with the variant e13a3 bcr abl1 fusion |
| url | http://dx.doi.org/10.1155/2019/9635070 |
| work_keys_str_mv | AT mireillecrampe molecularmonitoringinadultphiladelphiachromosomepositiveacutelymphoblasticleukemiawiththevariante13a3bcrabl1fusion AT laurakearney molecularmonitoringinadultphiladelphiachromosomepositiveacutelymphoblasticleukemiawiththevariante13a3bcrabl1fusion AT davidobrien molecularmonitoringinadultphiladelphiachromosomepositiveacutelymphoblasticleukemiawiththevariante13a3bcrabl1fusion AT clarrybacon molecularmonitoringinadultphiladelphiachromosomepositiveacutelymphoblasticleukemiawiththevariante13a3bcrabl1fusion AT dervilleoshea molecularmonitoringinadultphiladelphiachromosomepositiveacutelymphoblasticleukemiawiththevariante13a3bcrabl1fusion AT stephenelangabeer molecularmonitoringinadultphiladelphiachromosomepositiveacutelymphoblasticleukemiawiththevariante13a3bcrabl1fusion |