Myeloid neoplasms with PDGFRB rearrangement

Name
Myeloid neoplasms with PDGFRB rearrangement
ICD-O-3 Morphology
9966/3
Effective 2010 and later
Reportable
for cases diagnosed 2010 and later
Primary Site(s)
C421
Primary site must be bone marrow (C421)

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Grade
Code grade specified by pathologist. If no grade specified, code 9
Module Rule
None
Alternate Names
Chronic myelomonocytic leukemia with eosinophilia associated with t(5;12)
Definition
One of three myeloproliferative and lymphoid neoplasms associated with rearrangement of PDGFRA, PDGFRB and FGFR1. All result from formation of a fusion gene encoding an aberrant tyrosine kinase.

This disease occurs in association with rearrangement of PDGFRB at 5q31-33. Usually there is (5;12)(q31-33;p12) with formation of an ETV6-PDGFRB fusion gene.

The features are most consistent with CMML, but some patients have been characterized as atypical chronic myeloid leukemia.
Abstractor Notes
(This code is effective for cases diagnosed 2010 and later. For cases diagnosed prior to 2010, see code 9960/3.)

Myeloid neoplasms with PDGFRB rearrangement is a myeloproliferative neoplasm associated with t(5;12)(q31-33;p12). It is a multi-system disorder. The peripheral blood and bone marrow are always involved.

Skin infiltration may be present and some have cardiac damage leading to cardiac failure. Serum tryptase may be mildly or moderately elevated.
Definitive Diagnostic Methods
Bone marrow biopsy
Cytochemistry
FISH
Genetic testing
Immunophenotyping
Genetics Data
ETV6-PDGFRB fusion gene
t(5;12)(q31-33;p12)
Immunophenotyping
CD2+
CD25+
Treatments
Chemotherapy
Other RX
Transformations to
There are no known transformations
Transformations from
There are no known transformations
Corresponding ICD-9 Codes
205.8 Other myeloid leukemia
Corresponding ICD-10 Codes
C92.7 Other myeloid leukemia
Corresponding ICD-10-CM Codes (effective October 1, 2015 U.S. only)
C92.Z Other myeloid leukemia
Signs and Symptoms
Cardiac damage/failure
Elevated white cell count
Serum tryptase mild to moderately elevated
Progression and Transformation
None
Epidemiology and Mortality
Age: 40 years median age (8-72 year age range)
Sex: male dominance
Survival: Limited survival data available at this time. Based on small series of 10 patients, median survival was 65 months for patients who were on imatinib