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| http://dx.doi.org/10.1038/leu.2016.62 | DOI Listing |
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Next-generation sequencing RNA fusion panel for the diagnosis of haematological malignancies.
Pathology
November 2024
Department of Haematology, Monash Health, Clayton, Vic, Australia; Department of Diagnostic Genomics, Monash Health, Clayton, Vic, Australia; School of Clinical Sciences, Monash University, Clayton, Vic, Australia. Electronic address:
Haematological malignancies are being increasingly defined by gene rearrangements, which have traditionally been detected by karyotype, fluorescent in situ hybridisation (FISH) or reverse-transcriptase polymerase chain reaction (RT-PCR). However, these traditional methods may miss cryptic gene rearrangements and are limited by the number of gene rearrangements screened at any one time. A next-generation sequencing (NGS) RNA fusion panel is an evolving technology that can identify multiple fusion transcripts in a single molecular assay, even without prior knowledge of breakpoints or fusion partners.
View Article and Find Full Text PDFAcute myeloid leukemia with fusion gene: 'Pitfalls' in diagnosis.
Hematology
December 2024
Department of Clinical Laboratory, Fuyang People's Hospital, Fuyang, People's Republic of China.
Article Synopsis
- The text discusses a rare case of acute myeloid leukemia (AML) associated with basophilia, emphasizing the challenges in diagnosing this condition due to its rarity and poor prognosis.
- The authors describe their use of various diagnostic methods, including morphological screening, immunotyping, FISH analysis, and RNA sequencing, to accurately identify the type of AML and to guide treatment decisions.
- The study highlights the importance of advanced techniques such as NGS for detecting a broader range of genetic mutations, which can help avoid misdiagnosis and improve treatment outcomes for patients with hematologic malignancies.
False-Negative Testing for FIP1L1::PDGFRA by Fluorescence in situ Hybridization Is a Frequent Cause of Diagnostic Delay.
Acta Haematol
August 2023
National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
The imatinib-sensitive fusion gene FIP1L1::PDGFRA is the most frequent molecular abnormality identified in patients with eosinophilic myeloid neoplasms. Rapid recognition of this mutation is essential given the poor prognosis of PDGFRA-associated myeloid neoplasms prior to the availability of imatinib therapy. We report a case of a patient in whom delayed diagnosis resulted in cardiac transplantation for eosinophilic endomyocardial fibrosis.
View Article and Find Full Text PDF[FIP1L1::PDGFRA-positive chronic eosinophilic leukemia showing slowly progressive cardiac impairment].
Rinsho Ketsueki
January 2023
Hematology and Oncology Division, Hitachi General Hospital.
This report describes a 69-year-old man with eosinophilia that was detected during a medical check-up. A review of his medical history revealed that his absolute eosinophil count was 990/µl at the age of 55 and increased to 5,380/µl at the age of 69. Electrocardiogram revealed first-degree atrioventricular block at the age of 58, followed by ST-segment depression and a negative T wave at the age of 65.
View Article and Find Full Text PDFAcute exacerbation of idiopathic hypereosinophilic syndrome following asymptomatic coronavirus disease 2019: a case report.
J Med Case Rep
August 2022
Department of Respiratory medicine, Asahikawa City Hospital, 1-65, Kinseicho-1-chome, Asahikawa, Hokkaido, Japan.
Article Synopsis
- A rare autoimmune condition, hypereosinophilic syndrome, may develop or worsen after a COVID-19 infection, though this connection is not fully understood.
- A case study details a 48-year-old woman who experienced severe symptoms of idiopathic hypereosinophilic syndrome following an asymptomatic COVID-19 infection, showcasing various health issues, including skin rashes and weight loss.
- Both idiopathic hypereosinophilic syndrome and eosinophilic granulomatosis with polyangiitis share similar symptoms, prompting the use of glucocorticoids as a treatment after careful discussion among healthcare professionals.
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