Name

Acute myeloid leukemia with mutated NPM1

ICD-O-3 Morphology

9877/3: Acute myeloid leukemia with mutated NPM1
Effective 2021 and later

Reportable

for cases diagnosed 2021 and later

Primary Site(s)

C421
Primary site must be C421 (bone marrow)

Abstractor Notes

(This code is effective for cases diagnosed 2021 and later. For cases diagnosed prior to 2021 see code: 9861/3.)

Patients often present with anemia and thrombocytopenia, and often have higher white blood cell and platelet counts than seen with other AML types. Cases may show extramedullary involvement, the most frequently affected sites are gingiva, lymph nodes, and skin.

Grade

Not Applicable

Module Rule

None

Alternate Names

Acute myeloid leukemia with cytoplasmic nucleophosmin

Definition

Acute myeloid leukemia (AML) with mutated NPM1 carries mutations that usually involve exon 12 of NPM1. Aberrant cytoplasmic expression of NPM1 is a surrogate marker of such mutations. This AML type frequently has myelomonocytic or monocytic features and typically presents de novo in adults with a normal karotype.

Definitive Diagnostic Methods

Genetic testing
Immunophenotyping

Genetics Data

del(9q)
Gain of chromosome 8

Immunophenotyping

CD13 expression
CD14 positive
CD33 expression
CD34 mostly negative (but can be positive)
CD36 positive
CD64 positive
CD110 expression
CD123 expression
HLA-DR negative
KIT (CD117) expression

Treatments

Chemotherapy
Hematologic Transplant and/or Endocrine Procedures

Transformations to

None

Corresponding ICD-9 Codes

None

Corresponding ICD-10 Codes

C92.0 Acute myeloid leukemia

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

C92.0 Acute myeloblastic leukemia (effective October 01, 2015)

Signs and Symptoms

Anemia
Bone marrow failure
Easy bruising or bleeding
Fatigue
Fever
Leukocytosis
Neutropenia
Petechiae
Shortness of breath
Thrombocytopenia
Weakness
Weight loss or loss of appetite

Diagnostic Exams

CT (CAT) scan
Cytogenetic analysis
Genetic testing
Immunophenotyping
Peripheral blood smear
Physical exam and history
Reverse transcription-polymerase chain reaction test (RT-PCR)

Progression and Transformation

None

Epidemiology and Mortality

Age: Occurs in 2-8% of childhood cases and 27%-35% of adults cases
Incidence: One of the most common recurrent genetic lesions in AML, female predominance
Survival: Good response to induction therapy

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: Acute myeloid leukemia and related precursor neoplasms
Pages: 141-142

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

National Cancer Institute
Section: General Information About Acute Myeloid Leukemia
Pages: https://www.cancer.gov/types/leukemia/hp/adult-aml-treatment-pdq
Glossary