Characterizing false-positive fluorescence in situ hybridization results by mate-pair sequencing in a patient with chronic myeloid leukemia and progression to myeloid blast crisis.

@article{Lopes2020CharacterizingFF,
  title={Characterizing false-positive fluorescence in situ hybridization results by mate-pair sequencing in a patient with chronic myeloid leukemia and progression to myeloid blast crisis.},
  author={Jaime L Lopes and Matthew R Webley and Beth A. Pitel and Kathryn E. Pearce and James B. Smadbeck and Sarah H. Johnson and George Vasmatzis and William R. Sukov and Patricia T Greipp and Nicole L. Hoppman and Rhett P Ketterling and Linda B. Baughn and Laura E. Finn and Jess F Peterson},
  journal={Cancer genetics},
  year={2020},
  volume={243},
  pages={
          48-51
        }
}
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2 Citations

2 Citations

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Citation Type

Utilizing next-generation sequencing to characterize a case of acute myeloid leukemia with t(4;12)(q12;p13) in the absence of ETV6/CHIC2 and ETV6/PDGFRA gene fusions.
Whole Genome Sequencing Provides Efficient and Comprehensive Genetic Risk Stratification in Acute Myeloid Leukemia and Myelodysplastic Syndrome

References

SHOWING 1-8 OF 8 REFERENCES
Elucidating a false-negative MYC break-apart fluorescence in situ hybridization probe study by next-generation sequencing in a patient with high-grade B-cell lymphoma with IGH/MYC and IGH/BCL2 rearrangements
TLDR
A 60-yr-old male with newly diagnosed high-grade B-cell lymphoma is reported with a negative MYC BAP study, but with positive BCL2 and BCL6 BAP studies, and a next-generation sequencing strategy, mate-pair sequencing (MPseq), was performed and revealed a small insertion of the IGH locus downstream from the MYC gene that was undetectable by MYCBAP studies.
Constitutional chromosome rearrangements that mimic the 2017 world health organization "acute myeloid leukemia with recurrent genetic abnormalities": A study of three cases and review of the literature.
SVAtools for junction detection of genome-wide chromosomal rearrangements by mate-pair sequencing (MPseq).
Applications of fluorescence in situ hybridization (FISH) in detecting genetic aberrations of medical significance
TLDR
This simple, yet effective, technique has revolutionized cytogenetics and has become well established in its potential as a diagnostic and discovery tool in the fight against cancer.
Diagnosis and classification of hematologic malignancies on the basis of genetics.
TLDR
How genetic alterations define subclasses of patients with acute leukemias, myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPNs), non-Hodgkin lymphomas, and classical Hodgkin lymphoma is reviewed.
NUP98 gene fusions and hematopoietic malignancies: common themes and new biologic insights.
TLDR
Several of the NUP98 fusion proteins have been shown to inhibit differentiation of hematopoietic precursors and to increase self-renewal of heMatopOietic stem or progenitor cells, providing a potential mechanism for malignant transformation.
Myeloid neoplasms with eosinophilia.
TLDR
Myeloid mutation panels have identified somatic variants in patients with a provisional diagnosis of hypereosinophilia of undetermined significance, reclassifying some of these cases as eos inophilia-associated neoplasms.
Current Role of Genetics in Hematologic Malignancies
TLDR
It is imperative for practitioners working in the field of hemato-oncology to have sufficient understanding of the basic concepts of genetics in order to comprehend upcoming molecular research in this area and to translate the same for patient care.