Search Database ICD-O-3 Code Lists

Name

Myeloid/lymphoid neoplasms with JAK2 rearrangement

ICD-O-3 Morphology

9968/3: Myeloid/lymphoid neoplasms with PCM1-JAK2
Effective 2021 and later

Reportable

for cases diagnosed 2021 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 2021 and later. For cases diagnosed prior to 2021 see code: 9975/3.)

Myeloid/lymphoid neoplasms with JAK2 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 involved. Patients often have hepatosplenomegaly.

Diagnostic Confirmation

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

Module Rule

None

Alternate Names

Myeloid/lymphoid neoplasm with ETV6::ABL1 fusion
Myeloid/lymphoid neoplasm with FLT3 rearrangement
Myeloid/lymphoid neoplasm with other tyrosine kinase fusion genes
Myeloid/lymphoid neoplasm with PCM1-JAK2

Definition

Myeloid/lymphoid neoplasm with JAK2 rearrangement: This entity comprises myeloid and/or lymphoid neoplasms associated with a JAK2 fusion. The most common fusion partner for this entity is PCM1, although many additional partner genes result in JAK2 fusions driving myeloid and/or lymphoid neoplasms that fall into this diagnostic category. (WHO 5th edition)

Myeloid/lymphoid neoplasm with FLT3 rearrangement:
Myeloid/lymphoid neoplasms with FLT3 rearrangement are hematopoietic stem cell neoplasms associated with gene rearrangements forming a fusion gene involving the fms-related receptor tyrosine kinase 3 gene (FLT3), usually producing a myeloproliferative neoplasm and/or T-lymphoblastic leukemia/lymphoma with associated eosinophilia, although the phenotypic presentation may be variable and diverse. (WHO 5th edition)

Myeloid/lymphoid neoplasm with ETV6::ABL1 fusion: Myeloid/lymphoid neoplasm with ETV6::ABL1 fusion is a hematopoietic stem cell neoplasm associated with fusion of the genes ETV6 and ABL1. (WWHO 5th edition)

Definitive Diagnostic Methods

Cytogenetics
Genetic testing

Genetics Data

BCR::JAK2 fusion
ETV6::ABL1 fusion
ETV6::JAK2 fusion
ETV6/12p131 fusion
PCM1-JAK2 fusion

Immunophenotyping

Immunophenotyping not relevant, diagnosed via genetic analysis

Treatments

Chemotherapy
Hematologic Transplant and/or Endocrine Procedures

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

Easy bruising or bleeding
Fatigue
Fever
Frequent infections
Hepatosplenomegaly
Pain or a feeling of fullness below the rib
Pale skin
Petechiae
Shortness of breath
Weakness
Weight loss

Diagnostic Exams

Bone marrow aspiration and biopsy
Cytogenetic analysis
Flow cytometry
Immunocytochemistry
Molecular analysis
Peripheral blood smear
Physical exam and history

Progression and Transformation

Transformation to acute myeloid leukemia

Epidemiology and Mortality

Age range (12-75 years), with a median age of 47 years
Marked male predominance with male-to-female ratio of 27:5
Survival for chronic phase: ranges from several days to many years

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: 202

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
Glossary