Chronic Myeloid Neoplasms - Myeloid neoplasm associated with PDGFRB rearrangement

Home Chapter Home Jobs Conferences Fellowships Books

Chronic Myeloid Neoplasms

MDS/MPN

Myeloid neoplasm associated with PDGFRB rearrangement

Reviewer: Nikhil Sangle, M.D. (see Reviewers page)
Revised: 12 August 2011, last major update August 2011
Copyright: (c) 2001-2011, PathologyOutlines.com, Inc.

Definition
=========================================================================

● Very rare
● Also called chronic myelomonocytic leukemia with eosinophilia associated with t(5;12)
● PDGFRB is at 5q31-33

Laboratory
=========================================================================

● Leukocytosis and eosinophilia
● Variable monocytosis and neutrophilia
● Anemia and thrombocytopenia

Diagnosis
=========================================================================

● Bone marrow examination with tryptase stain, T cell clonal studies
● Use of immunostains, cytogenetics and molecular studies to detect PDFGRB rearrangement and absence of BCR-ABL

Treatment
=========================================================================

● Very sensitive to imatinib; median survival 65 months (Blood 2007;109:61, N Engl J Med 2002;347:481, Blood 2007;109:61)

Molecular description
=========================================================================

● t(5;12)(q31-q33;p12) or a variant translocation or ETV6-PDGFRB fusion gene
● ETV6, previously known as TEL (Acta Haematol 2002;107:113)

Molecular images
=========================================================================

FISH assays indicate rearrangement of PDGFRB

Differential diagnosis
=========================================================================

● Chronic eosinophilic leukemia-not otherwise categorized or Hypereosinophilic syndrome: both lack PDFGRB rearrangement

Additional references
=========================================================================

● Atlas of Genetics and Cytogenetics

End of Chronic Myeloid Neoplasms > MDS/MPN > Myeloid neoplasm associated with PDGFRB rearrangement

This information is intended for physicians and related personnel, who understand that medical information is often imperfect, and must be interpreted in the context of a patient's clinical data using reasonable medical judgment. This website should not be used as a substitute for the advice of a licensed physician.

All information on this website is protected by copyright of PathologyOutlines.com, Inc. Information from third parties may also be protected by copyright. Please contact us at copyrightPathOut@gmail.com with any questions (click here for other contact information).