Myeloid leukemia associated with Down Syndrome

Name
Myeloid leukemia associated with Down Syndrome
ICD-O-3 Morphology
9898/3
Effective 2010 and later
Reportable
for cases diagnosed 2010 and later
Primary Site(s)
C421
Primary site must be bone marrow (C421)

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Grade
Code grade specified by pathologist. If no grade specified, code 9
Module Rule
See abstractor notes
Alternate Names
Acute myeloid leukemia associated with Down syndrome
AML associated with DS
Definition
Acute myeloid leukemia in DS is usually an acute megakaryoblastic leukemia. There are no biological differences in Down Syndrome's individuals between myelodysplastic syndrome (MDS) and AML. In the preleukemia phase, the disease has the features of Refractory cytopenia of childhood (RCC).

Individuals with DS have a 50x increase in incidence of acute leukemia during the first 5 years of life compared to non-DS individuals. This is part of the myeloid proliferations with Down syndrome WHO group, which also includes transient abnormal myelopoiesis (see 9898/1).
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.

There is no biological differences between myelodysplastic syndrome (MDS) and overt acute myeloid leukemia (AML) in DS individuals. Because this type of disease is unique to children with DS, the term Myeloid leukemia (AML) of DS encompasses both neoplasms, MDS and AML.

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
GATA 1
Trisomy 8
Trisomy 21
Immunophenotyping
CD4+ (most cases)
CD7+ (most cases)
CD13+ (most cases)
CD14-
CD15-
CD33+ (most cases)
CD36+ (most cases)
CD41+ (most cases)
CD42+ (most cases)
CD61+ (most cases)
CD71+ (most cases)
CD117+ (most cases)
IL-3R+ (most cases)
TPO-R+ (most cases)
Treatments
Chemotherapy
Stem cell transplant
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 (effective October 1, 2015 U.S. only)
C92.Z Other myeloid leukemia
Signs and Symptoms
Easy bruising or bleeding
Fatigue
Fever
Petechiae
Shortness of breath
Weakness
Weight loss or loss of appetite
Diagnostic Exams
Bone marrow aspiration and biopsy
Complete blood count (CBC)
CT (CAT) scan
Reverse transcription-polymerase chain reaction test (RT-PCR)
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