Name

Acute myeloid leukemia with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2); GATA2, MECOM

ICD-O-3 Morphology

9869/3: Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1
Effective 2010 and later

Reportable

for cases diagnosed 2010 and later

Primary Site(s)

C421
Primary site must be bone marrow (C421)

Grade

Not Applicable

Module Rule

None

Alternate Names

Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1

Definition

Acute myeloid leukemia with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2) resulting in deregulated MECOM (also called EVI1) and GATA2 expression is an AML with greater than or equal to 20% peripheral blood or bone marrow blasts. It is often associated with normal or elevated platelet counts and has increased dysplastic megakaryocytes with unilobed or bilobed nuclei and multilineage dysplasia in the bone marrow.

Abstractor Notes

(This code is effective for cases diagnosed 2010 and later. For cases diagnosed prior to 2010 see code 9861/3.)

Patients may have a prior MDS or present with splenomegaly.

If the leukemia occurs before or simultaneously with Myeloid Sarcoma (9930/3), see M3 and Module 5:PH10

Definitive Diagnostic Methods

Genetic testing
Immunophenotyping
Peripheral blood smear

Genetics Data

CBL
FLT3
GATA2
inv(3)(q21.3q26.2)
KRAS
MDS1-EV11
MECOM at 3q26.2
NRAS
PTPN11
RPN1
SF3B1(often with GATA2)
t(3;3)(q21.3;q26.2)
t(3;21))q26.2;q22.1) resulting in MECOM-RUNX1 fusion

Immunophenotyping

CD7 aberrant expression
CD13 positive
CD33 positive
CD34 positive
CD38 positive
CD41 expression
CD61 expression
HLA-DR positive
KIT (CD117) positive

Treatments

Hematologic Transplant and/or Endocrine Procedures

Transformations to

None

Corresponding ICD-9 Codes

205.0 Acute myeloid leukemia

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

Easy bruising or bleeding
Shortness of breath
Weakness
Weight loss or loss of appetite

Progression and Transformation

None

Epidemiology and Mortality

Age: predominantly adults
Incidence: 1-2% of all AML cases
Sex: no male or female predominance

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: 138-139

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 Acute Myeloid Leukemia
Pages: https://www.cancer.gov/types/leukemia/hp/adult-aml-treatment-pdq
Glossary