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

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

Diagnosis
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● 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
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● 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
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● 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
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FISH assays indicate rearrangement of PDGFRB

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

Additional references
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Atlas of Genetics and Cytogenetics

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


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