Search Database ICD-O-3 Code Lists

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.

Coding Manual: Hematopoietic Coding Manual (PDF)

Abstractor Notes

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

Diagnostic Confirmation

This histology can only be determined by positive genetics and/or immunophenotyping, diagnostic confirmation will always be 3.

Grade

Not Applicable

Module Rule

C96.9 Malignant neoplasms of lymphoid, hematopoietic, and related tissue, unspecified

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.

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- (no expression/negative)
CD23+ (expression/positive)
CD25+ (expression/positive)
CD69+ (expression/positive)

Treatments

Chemotherapy
Other therapy

Transformations to

There are no known transformations

Transformations from

There are no known transformations

Same Primaries

Corresponding ICD-9 Codes

202.9 Other and unspecified malignant neoplasms of lymphoid and histiocytic tissue

Corresponding ICD-10 Codes

C96.7 Other specified malignant neoplasms of lymphoid, hematopoietic, and related tissue
C96.9 Malignant neoplasms of lymphoid, hematopoietic, and related tissue, unspecified

Corresponding ICD-10-CM Codes (U.S. only)

C96.Z Other specified malignant neoplasms of lymphoid, hematopoietic, and related tissue (effective October 01, 2015)
C96.9 Malignant neoplasms of lymphoid, hematopoietic, and related tissue, unspecified (effective October 01, 2015)

Signs and Symptoms

Cardiomyopathy
Endomyocardial fibrosis
Fatigue
Pruritus
Serum tryptase increased
Splenomegaly
Vitamin B12 serum levels markedly elevated

Diagnostic Exams

Blood chemistry studies
Cytogenetic analysis
Immunophenotyping
Peripheral blood smear

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, Second Revision. Geneva: World Health Organization, 2020.
Section: ICD-O-3.2 (2020) Morphological Codes
Pages: http://www.iacr.com.fr/index.php?option=com_content&view=category&layout=blog&id=100&Itemid=577
Glossary