Search Database ICD-O-3 Code Lists

Name

Myeloid/lymphoid neoplasms (associated) 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.

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.)

Myeloid/lymphoid neoplasms (associated) with PDGFRB rearrangement is part of the Myeloid/lymphoid neoplasms lineage table in the WHO 5th edition of Hematolymphoid Tumors. (See Appendix B in the Hematopoietic Manual, Table B8)

The peripheral blood and bone marrow are invariably involved. Splenic involvement is common. Other extramedullary sites of involvement include the skin and heart. Tissue infiltration by neoplastic eosinophils and the release of eosinophilic granules and related cytokines and other humoral factors may contribute to organ damage.

Diagnostic Confirmation

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

Module Rule

None

Alternate Names

Chronic myelomonocytic leukemia with eosinophilia associated with t(5;12)

Definition

Myeloid/lymphoid neoplasm with PDGFRB rearrangement includes myeloid and lymphoid neoplasms and is frequently associated with eosinophilia. This entity is characterized by chromosomal rearrangements involving 5q32, leading to the formation of a PDGFRB fusion gene. The most common partner gene is ETV6, although other partner genes have been described. (WHO 5th edition)

Definitive Diagnostic Methods

Cytogenetics
Genetic testing

Genetics Data

5q31 chromosomal breakpoint
5q32 chromosomal breakpoint
5q33 chromosomal breakpoint
t(5;12)(q31-33;p12) (ETV6-PDGFRB fusion gene)

Immunophenotyping

Immunophenotyping not relevant, diagnosed via genetic analysis

Treatments

Chemotherapy
Other therapy

Transformations to

There are no known transformations

Transformations from

There are no known transformations

Same Primaries

Corresponding ICD-10 Codes (Cause of Death codes only)

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

Anemia
Cardiac damage/failure
Elevated white cell count
Hepatomegaly
Serum tryptase mild to moderately elevated
Skin infiltration
Splenomegaly
Thrombocytopenia

Diagnostic Exams

Bone marrow aspiration and biopsy
Cytogenetic analysis
Flow cytometry
Immunophenotyping
Molecular analysis
Peripheral blood smear

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

WHO Classification of Tumours Editorial Board. Haematolymphoid tumours. Lyon (France): International Agency for Research on Cancer; 2024. (WHO classification of tumours series, 5th ed.; vol. 11). https://publications.iarc.who.int/637.
Section: Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions
Pages: Part A: 188-190

International Classification of Diseases for Oncology, 3rd edition (including revisions). Geneva: World Health Organization, 2001, 2011, 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
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