Myeloproliferative neoplasms (MPN/CML)

Available tests Karyotyping; Fluorescence in situ hybridisation for: BCR-ABL to detect t(9;22) and variant/cryptic rearrangements in CML;
FIP1L1-CHIC2-PDGFRα to detect PDGFRα rearrangement in chronic eosinophilic leukaemia/hypereosinophilic syndrome;
FGFR1 in 8p11 myeloproliferative syndrome
Clinical details: 
The identification of BCR-ABL rearrangement is critical in establishing a diagnosis of chronic myeloid leukaemia (CML), and in identifying patients who are eligible for treatment with the tyrosine kinase inhibitors (TKI) imatinib, dasatinib and nilotinib. Cytogenetic monitoring of these patients to assess response to therapy is standard-of-care, and time to achieve complete cytogenetic remission has been shown to be predictive of long-term outcome and the possible need to switch therapy to an alternative TKI. In other myeloproliferative neoplasms (MPN), cytogenetic abnormalities detected can help in the establishment of a diagnosis of MPN, and can then be used in disease monitoring, where clonal evolution may indicate disease progression. Karyotype analysis is a requirement for a number of clinical trials. Certain specific abnormalities i.e. PDGFRα and FGFR1 rearrangement also identify patients who may respond to specific TKI's.
Synonyms or keywords: 
BCR-ABL, t(9;22), CML, chronic myelogenous leukaemia, chronic myeloid leukaemia, myeloproliferative neoplasia, MPN, myeloproliferative disorder, MPD, FIP1L1-CHIC2-PDGFRα, PDGFRα, chronic eosinophilic leukaemia, hypereosinophilic syndrome, FGFR1, 8p11 myeloproliferative syndrome
Sample type and Volume required: 
Peripheral blood, bone marrow aspirate, as appropriate, minimum volume as available
Turnaround time: 
Current service turnaround times: Urgent 1-7 calendar days; Non-urgent 5-10 calendar days; National targets: Urgent samples 95% reported within 14 days; Non-urgent 95% reported within 21 days
Storage and transport: 
Peripheral blood in lithium heparin or bone marrow transport medium. All other samples in bone marrow transport medium. Do not spindown or freeze samples before sending. Samples must arrive within 24 hours
Oncology Cytogenetics Laboratory at Guy's Hospital
Genetics Department
Tower Wing - 5th Floor
Guy's Hospital
Great Maze Pond
London SE1 9RT

T: 020 7188 1715
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 07/08/2015