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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 PDFA case report of right-sided heart failure secondary to JAK2-mutation Loeffler endocarditis.
ESC Heart Fail
December 2024
Department of Cardiology, Fuwai Yunnan Hospital, Chinese Academy of Medical Sciences/Affiliated Cardiovascular Hospital of Kunming Medical University, Kunming, People's Republic of China.
Article Synopsis
- Loeffler's endocarditis (LE) is linked to hypereosinophilic syndrome, presenting in a 45-year-old woman with severe right-sided heart failure and an extreme eosinophil count of 20.9 × 10.* -
- Imaging showed significant damage to the right ventricle, and biopsies revealed extensive endocardial fibrosis and eosinophil-rich thrombi, though no specific gene mutations were linked to abnormal blood conditions.* -
- The patient underwent treatment with ruxolitinib, followed by heart transplantation due to irreversible damage, and after a challenging recovery phase, she improved despite facing ICU-acquired weakness and depression.*
Acute 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.
Hypereosinophilic syndrome (HES) is a rare condition characterized by elevated eosinophil counts (>1.5 x 10 on two consecutive measurements), which are of myeloid clonal in origin or are driven by excess cytokines. One subtype of HES exhibits the Fip1-like 1-platelet-derived growth factor receptor alpha (FIP1L1-PDGFRA) fusion gene, a gain-of-function mutation resulting in a hyperactive tyrosine kinase.
View Article and Find Full Text PDFMarked eosinophilic atypia in a patient with asthma and myeloid/lymphoid neoplasm with FIP1L1::PDGFRA fusion.
Br J Haematol
July 2024
Department of Pathology, Immunology, and Laboratory Medicine, Rutgers New Jersey Medical School, Newark, New Jersey, USA.
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