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The role of molecular genetic analysis within the diagnostic haemato‐oncology laboratory
Author(s) -
BENCH A. J.
Publication year - 2012
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/j.1751-553x.2011.01364.x
Subject(s) - disease , molecular diagnostics , molecular genetics , minimal residual disease , identification (biology) , genetic testing , disease monitoring , fusion gene , biology , medicine , bioinformatics , computational biology , oncology , genetics , gene , leukemia , botany
Summary The identification of the molecular genetic basis to many haematological malignancies along with the increased use of molecularly targeted therapy has heralded an increasing role for molecular genetic–based techniques. Demonstration of acquired changes such as the JAK2 V617F mutation within myeloproliferative neoplasms has quickly moved from a research setting to the diagnostic laboratory. Disease‐specific genetic markers, such as the BCR – ABL1 fusion gene in chronic myeloid leukaemia, enable sensitive molecular genetic methods to be applied for the detection and quantification of low‐level residual disease, allowing early identification of relapse. Consequently, molecular genetics now plays a crucial role in diagnosis, the identification of prognostic markers and monitoring of haematological malignancies. The development of high‐throughput whole‐genome approaches offers the potential to rapidly screen newly diagnosed patients for all disease‐associated molecular genetic changes.