Name

Myeloid/lymphoid neoplasms with PDGFRB rearrangement

ICD-O-3 Morphology

9966/3: Myeloid neoplasms with PDGFRB rearrangement
Effective 2010 and later

Reportable

for cases diagnosed 2010 and later

Primary Site(s)

C421
Primary site must be bone marrow (C421). Blood and bone marrow always involved.

Grade

Not Applicable

Module Rule

None

Alternate Names

Chronic myelomonocytic leukemia with eosinophilia associated with t(5;12)
Myeloid neoplasms associated with PDGFRB rearrangement
Myeloid neoplasms with PDGFRB rearrangement

Definition

The category 'myeloid/lymphoid neoplasm with eosinophilia and rearrangement of PDGFRA, PDGFRB or FGFR1, or with PCM1-JAK2' contains three specific rare disease groups and a provisional entity. Within this category, features shared are the formation of a fusion gene, or (rarely) from a mutation, resulting in the expression of an aberrant tyrosine kinase.

Myeloid/lymphoid neoplasms with PDGFRB rearrangement is a distinct type of neoplasm occurring in association with rearrangement of PDGFRB at 5q32 and associated with t(5;12)(q31-33;p12).

Most patients have splenomegaly and some have hepatomegaly. Patients may also have skin infiltration and cardiac damage, leading to cardiac failure. Serum tryptase may be mildly or moderately elevated.

Abstractor Notes

(This code is effective for cases diagnosed 2010 and later. For cases diagnosed prior to 2010, see code 9960/3.)

Definitive Diagnostic Methods

Bone marrow biopsy
Cytochemistry
FISH
Genetic testing
Immunophenotyping

Genetics Data

5q31
5q33
ETV6-PDGFRB fusion gene
t(5;12)(q31-33;p12)

Immunophenotyping

CD2+
CD25+

Treatments

Chemotherapy
Other therapy

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 (U.S. only)

C92.Z Other myeloid leukemia (effective October 01, 2015)

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

Sources

Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J (Eds):
WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues (Revised 4th edition)
IARC: Lyon 2017
Section: Myeloid/lymphoid neoplasms with eosinophilia gene rearrangement
Pages: 76-77

International Classification of Diseases for Oncology, Third Edition, First Revision. Geneva: World Health Organization, 2013.
Section: ICD-O-3.1 (2011) Morphological Codes
Pages: http://codes.iarc.fr/codegroup/2
Glossary