Name

Polycythemia vera

ICD-O-1 Morphology

9842/3: Chronic erythremia
9950/1: Polycythemia vera

ICD-O-2 Morphology

9842/3: Chronic erythremia
9950/1: Polycythemia vera

ICD-O-3 Morphology

9950/3: Polycythemia vera
Effective 2001 and later

Reportable

for cases diagnosed 2001 and later

Primary Site(s)

C421
Primary site must be bone marrow (C421). Blood and bone marrow are the primary sites of involvement.

Grade

Not Applicable

Module Rule

None

Alternate Names

Acquired true primary polycythemia
Chronic erythremia [OBS]
Cryptogenic polycythemia
Erythremia
Erythrocytosis megalosplenica
Myelopathic polycythemia
Osler-Vaquez disease
Plethora vera
Polycythemia rubra vera
Polycythemia vera, acquired
Polycythemia with chronic cyanosis
Primary polycythemia
Proliferative polycythemia
PRV
PV
Spent phase polycythemia
Splenomegalic polycythemia
Vaquez-Osler's disease

Definition

Polycythemia vera (PV) is a chronic myeloproliferative neoplasm (MPN) characterized by increased red blood cell (RBC) production independent of the mechanisms that normally regular erythropoiesis.

Virtually all patients carry the somatic JAK2 V617F gain-of-function mutation or another functionally similar JAK2 mutation that results in proliferation only only of the erythroid lineage but also of granulocytes and megakaryocytes.

Generally two phases of PV are recognized.
1. A polycythemic phase, associated with elevated hemoglobin level, elevated hematocrit, and increased RBC mass
2. A spent phase or post-polycythemic myelofibrosis phase (post-PV myelofibrosis), in which cytopenias, including anemia, are associated with ineffective hematopoiesis, bone marrow fibrosis, extramedullary hematopoiesis, and hypersplenism.

The natural progression of PV also includes a low incidence of evolution to a myelodysplastic/pre-leukemic phases and/or blast phase.

The diagnosis requires integration of clinical, laboratory, and bone marrow histological features. Diagnosis of PV requires meeting either all 3 major criteria, or the first 2 major criteria and the minor criterion.

Major criteria
1. Hemoglobin .16.5 g/dL in men, Hemoglobin .16.0 g/dL in women or, Hematocrit .49% in men, Hematocrit .48% in women or, increased red cell mass (RCM)
2. BM biopsy showing hypercellularity for age with trilineage growth (panmyelosis) including prominent erythroid, granulocytic, and megakaryocytic proliferation with pleomorphic, mature megakaryocytes (differences in size)
3. Presence of JAK2V617F or JAK2 exon 12 mutation

Minor criterion
Subnormal serum erythropoietin level

Abstractor Notes

Treatment is used for control, not cure. The patient has phlebotomy (removal of blood, usually a pint every other day) until the hematocrit reaches a normal level. Then blood is removed every few months as needed.

Aspirin was previously documented as treatment for MPN, NOS. This was found to be incorrect. Treatment has been updated based on the NCI website. Aspirin is given to patients with PV to reduce bone pain. The aspirin is not used to manage the cancer. Treatment has been updated based on the NCI website (updated 6/12/15).

Definitive Diagnostic Methods

Bone marrow biopsy
Clinical diagnosis
Genetic testing

Genetics Data

BCR-ABL1 fusion absent
Janus kinase-2, JAK2
JAK2 V617F
Philadelphia (Ph) chromosome absent

Immunophenotyping

None

Treatments

Chemotherapy
Immunotherapy
Other therapy

Transformations from

None

Corresponding ICD-9 Codes

238.4 Polycythemia vera

Corresponding ICD-10 Codes

D45 Polycythemia vera

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

D45 Polycythemia vera (effective October 01, 2015)

Signs and Symptoms

Budd-Chiari syndrome
Double vision or seeing dark or blind spots that come and go
Elevated hemoglobin, hematocrit, or platelet count
Elevated white blood cell count
Feeling of pressure or fullness below the ribs on the left side
Headaches
Itching all over the body, especially after being in warm or hot water
Reddened face that looks like a blush or sunburn
Weakness
Weight loss for no reason

Progression and Transformation

Up to 20% transform to myelodysplasia or AML (usually cause of death)

Epidemiology and Mortality

Age: 60 years median age
Incidence: 0.7 to 2.6 per 100,000 in US
Sex: Slight male predominance
Survival: >10 years with treatment

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: Myeloproliferative neoplasms
Pages: 39-43

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

National Cancer Institute
Section: General Information About Myeloproliferative Neoplasms
Pages: https://www.cancer.gov/types/myeloproliferative/hp/mds-mpd-treatment-pdq
Glossary