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A Case of Chronic Myelogenous Leukemia Occurring in a Patient Treated for Essential Thrombocythemia
Patient: Female, 49 Final Diagnosis: Essential thrombocythemia with CML Symptoms: Decreased appetite • fatigue • weight loss Medication: — Clinical Procedure: — Specialty: Hematology OBJECTIVE: Unusual clinical course BACKGROUND: Essential thrombocythemia (ET) is one of the BCR-ABL gene fusion negat...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
International Scientific Literature, Inc.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325661/ https://www.ncbi.nlm.nih.gov/pubmed/30602717 http://dx.doi.org/10.12659/AJCR.911854 |
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author | Hassankrishnamurthy, Shruthimurthy Mody, Mayur D. Kota, Vamsi K. |
author_facet | Hassankrishnamurthy, Shruthimurthy Mody, Mayur D. Kota, Vamsi K. |
author_sort | Hassankrishnamurthy, Shruthimurthy |
collection | PubMed |
description | Patient: Female, 49 Final Diagnosis: Essential thrombocythemia with CML Symptoms: Decreased appetite • fatigue • weight loss Medication: — Clinical Procedure: — Specialty: Hematology OBJECTIVE: Unusual clinical course BACKGROUND: Essential thrombocythemia (ET) is one of the BCR-ABL gene fusion negative chronic myeloproliferative disorders (MPDs), which also include polycythemia vera (PV), and myelofibrosis. Few clinical cases have reported the progression of ET to chronic myelogenous leukemia (CML) with the expression of the BCR-ABL gene. This report describes such a case and includes a review of other reported cases of CML co-occurring with BCR-ABL-negative chronic MPDs. CASE REPORT: A 49-year-old woman was diagnosed with ET in 2007. Cytogenetic testing was negative for expression of the JAK2 or BCR-ABL1 genes. Eight years later, in January 2015, she presented with excessive fatigue, poor appetite, unintentional weight loss, a white blood cell (WBC) count of 24,700 per mL, hemoglobin of 9.9 g/dl, and a platelet count of 557,000 per mL, with blasts and basophils in the blood film. Cytogenetic analysis with fluorescent in situ hybridization (FISH) confirmed a 9: 22 chromosomal translocation (Philadelphia chromosome), and quantitative reverse transcription polymerase chain reaction (qRT-PCR) detected the expression of the BCRABL gene, confirming a diagnosis of CML. In February 2015, first-line therapy commenced with nilotinib, which was changed to imatinib after three months. During the following nine months, qRT-PCR confirmed a trend to deep molecular remission (MR5). However, she developed early myelofibrosis, and myelosuppressive therapy was resumed. CONCLUSIONS: This rare case highlights the importance of cytogenetic testing in cases of CMPD that transform to CML, not only to confirm the diagnosis but to plan treatment, as Philadelphia chromosome-positive and -negative cases differ in their management. |
format | Online Article Text |
id | pubmed-6325661 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | International Scientific Literature, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-63256612019-01-25 A Case of Chronic Myelogenous Leukemia Occurring in a Patient Treated for Essential Thrombocythemia Hassankrishnamurthy, Shruthimurthy Mody, Mayur D. Kota, Vamsi K. Am J Case Rep Articles Patient: Female, 49 Final Diagnosis: Essential thrombocythemia with CML Symptoms: Decreased appetite • fatigue • weight loss Medication: — Clinical Procedure: — Specialty: Hematology OBJECTIVE: Unusual clinical course BACKGROUND: Essential thrombocythemia (ET) is one of the BCR-ABL gene fusion negative chronic myeloproliferative disorders (MPDs), which also include polycythemia vera (PV), and myelofibrosis. Few clinical cases have reported the progression of ET to chronic myelogenous leukemia (CML) with the expression of the BCR-ABL gene. This report describes such a case and includes a review of other reported cases of CML co-occurring with BCR-ABL-negative chronic MPDs. CASE REPORT: A 49-year-old woman was diagnosed with ET in 2007. Cytogenetic testing was negative for expression of the JAK2 or BCR-ABL1 genes. Eight years later, in January 2015, she presented with excessive fatigue, poor appetite, unintentional weight loss, a white blood cell (WBC) count of 24,700 per mL, hemoglobin of 9.9 g/dl, and a platelet count of 557,000 per mL, with blasts and basophils in the blood film. Cytogenetic analysis with fluorescent in situ hybridization (FISH) confirmed a 9: 22 chromosomal translocation (Philadelphia chromosome), and quantitative reverse transcription polymerase chain reaction (qRT-PCR) detected the expression of the BCRABL gene, confirming a diagnosis of CML. In February 2015, first-line therapy commenced with nilotinib, which was changed to imatinib after three months. During the following nine months, qRT-PCR confirmed a trend to deep molecular remission (MR5). However, she developed early myelofibrosis, and myelosuppressive therapy was resumed. CONCLUSIONS: This rare case highlights the importance of cytogenetic testing in cases of CMPD that transform to CML, not only to confirm the diagnosis but to plan treatment, as Philadelphia chromosome-positive and -negative cases differ in their management. International Scientific Literature, Inc. 2019-01-03 /pmc/articles/PMC6325661/ /pubmed/30602717 http://dx.doi.org/10.12659/AJCR.911854 Text en © Am J Case Rep, 2019 This work is licensed under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) ) |
spellingShingle | Articles Hassankrishnamurthy, Shruthimurthy Mody, Mayur D. Kota, Vamsi K. A Case of Chronic Myelogenous Leukemia Occurring in a Patient Treated for Essential Thrombocythemia |
title | A Case of Chronic Myelogenous Leukemia Occurring in a Patient Treated for Essential Thrombocythemia |
title_full | A Case of Chronic Myelogenous Leukemia Occurring in a Patient Treated for Essential Thrombocythemia |
title_fullStr | A Case of Chronic Myelogenous Leukemia Occurring in a Patient Treated for Essential Thrombocythemia |
title_full_unstemmed | A Case of Chronic Myelogenous Leukemia Occurring in a Patient Treated for Essential Thrombocythemia |
title_short | A Case of Chronic Myelogenous Leukemia Occurring in a Patient Treated for Essential Thrombocythemia |
title_sort | case of chronic myelogenous leukemia occurring in a patient treated for essential thrombocythemia |
topic | Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325661/ https://www.ncbi.nlm.nih.gov/pubmed/30602717 http://dx.doi.org/10.12659/AJCR.911854 |
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