Name

Myeloid/lymphoid neoplasms with PDGFRA rearrangement

ICD-O-3 Morphology

9965/3: Myeloid and lymphoid neoplasms with PDGFRA 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 eosinophilic leukemia with FIP1L1-PDGFRA
Myeloid and lymphoid neoplasms associated with PDGFRA rearrangement
Myeloid and lymphoid neoplasms with PDGFRA rearrangement
Myeloproliferative variant of the hypereosinophilic syndrome

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 PDGFRA rearrangement is the most common neoplasm associated with PDGFRA and is associated with FIP1L1-PDGFRA gene fusion, which occurs as a result of a cryptic deletion at 4q12. These neoplasms generally present as chronic eosinophilic leukemia (CEL), but can also present as acute myeloid leukemia, T-lymphoblastic leukemia lymphoma, or both simultaneously.

Organ damage (heart, lungs, central and peripheral nervous system, skin and GI tract) occurs as a result of leukemic infiltration or the release of cytokines, enzymes or other proteins by eosinophils. The peripheral blood eosinophil count is usually markedly elevated.

There is no Philadelphia (Ph) chromosome or BCR-ABL1 fusion gene, except when there is transformation to acute leukemia, there are less than 20% blasts in the peripheral blood and bone marrow.

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
FISH
Genetic testing
Immunophenotyping

Genetics Data

BCR-ABL1 fusion gene absent
FIP1L1-PDGFRA fusion gene resulting from cryptic del (4) (q12)
Philadelphia (Ph) chromosome absent
t(1;4)(q44;q12)
t(4;10)(q12;p11.1-p11.2)

Immunophenotyping

CD2-
CD23+
CD25+
CD69+

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

Endomyocardial fibrosis
Serum tryptase increased
Vitamin B12 serum levels markedly elevated

Progression and Transformation

None

Epidemiology and Mortality

Age: 25-55 years (median age onset 40s)
Sex: male dominance

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: 73-76

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