Name

Myeloid leukemia associated with Down Syndrome

ICD-O-3 Morphology

9898/3: Myeloid leukemia associated with Down Syndrome
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

See abstractor notes

Alternate Names

AML associated with DS

Definition

Among individuals with Down syndrome, the incidence rate of acute leukemia during the first 5 years of life is 50 times the rate among individuals without down syndrome. In Down syndrome, most cases of acute myeloid leukemia (AML) are acute megakaryoblastic leukemia, which accounts for greater than or equal to 50% of all cases of acute leukemia in Down syndrome beyond the natal period.

AML often follows a prolonged myelodysplastic syndrome(MDS)-like phase. In individuals with Down syndrome, there are no biological differences between MDS and overt AML.

Because this type of disease is unique to children with Down syndrome, the term "myeloid leukemia associated with Down syndrome" encompasses both MDS and AML.

Abstractor Notes

(This code is effective for cases diagnosed 2010 and later. For cases diagnosed prior to 2010 see code 9860/3.)

This disease is unique to children with Down's Syndrome (DS). Blood and bone marrow are the principle sites of involvement. Extramedullary involvement, mainly of spleen and liver, is almost always present.

If the leukemia occurs before or simultaneously with Myeloid Sarcoma, see M3 and Module 5: PH10

Definitive Diagnostic Methods

Bone marrow biopsy
Genetic testing
Immunophenotyping
Peripheral blood smear

Genetics Data

GATA1
KANSl1 mutation
SHSB3 mutation

Immunophenotyping

CD4 positive
CD7 positive
CD11b positive
CD13 positive
CD14 negative
CD15 negative
CD33 positive
CD34 negative
CD36 positive
CD41 positive
CD42 positive
CD61 positive
CD71 positive
CD110 (TPOR) positive
Glycophorin negative
IL3R positive
KIT (CD117) positive
MPO negative

Treatments

Chemotherapy
Hematologic Transplant and/or Endocrine Procedures

Transformations to

There are no known transformations

Transformations from

There are no known transformations

Corresponding ICD-9 Codes

205.8 Other myeloid leukemia

Corresponding ICD-10 Codes

C92.7 Other myeloid leukemia

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

C92.Z Other myeloid 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

High rate of spontaneous remission
Non-transient AML develops 1 to 3 years in 20-30% of patients

Epidemiology and Mortality

Age: predominantly in first 3 years of life
Incidence: 1-2% of children with Down Syndrome and 20% of all pediatric patients with AML/MDS

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: 170-171

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