Search Database ICD-O-3 Code Lists

Name

Myeloid leukemia associated with Down Syndrome (ML-DS)

ICD-O-3 Morphology

9898/3: Myeloid leukemia associated with Down Syndrome
Effective 2001 and later

Reportable

for cases diagnosed 1978 and later

Primary Site(s)

C421
Primary site must be bone marrow (C421)

Coding Manual: Hematopoietic Coding Manual (PDF)

Abstractor Notes

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

Myeloid leukemia associated with Down Syndrome (ML-DS) is part of the Secondary myeloid lineage table in the WHO 5th edition of Hematolymphoid Tumors. (See Appendix B in the Hematopoietic Manual, Table B7)

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 this leukemia and myeloid sarcoma (9930/3) occur during the same clinical workup, this is one primary, the leukemia.

If the myeloid sarcoma occurs after the diagnosis of the leukemia, that is a manifestation of the leukemia and is the same primary.

See Multiple Primary Rule M3

Diagnostic Confirmation

This histology can be determined by positive histology (including peripheral blood) with or without genetics and/or immunophenotyping. Review the Definitive Diagnostic Methods, Immunophenotyping and Genetics Data sections below, and the instructions in the Hematopoietic Manual for further guidance on assigning Diagnostic confirmation.

Module Rule

See abstractor notes

Alternate Names

Acute myeloid leukemia associated with Down syndrome

Definition

Myeloid proliferations associated with Down syndrome encompass two clonal conditions that arise in children with constitutional trisomy 21: transient abnormal myelopoiesis (TAM) and myeloid leukemia associated with Down syndrome (ML-DS). (WHO 5th edition)

See 9898/1 for TAM

Definitive Diagnostic Methods

Clinical diagnosis
Cytogenetics
Genetic testing
Histologic confirmation
Immunohistochemistry
Immunophenotyping

Genetics Data

GATA1 mutation (Exon 2/3)
Trisomy 21
Additional mutations include cohesin, epigenetic regulator, or tyrosine kinase genes

Immunophenotyping

CD7+ (expression/positive
CD25a+ (Glycophorin A) (expression/positive)
CD34+ (expression/positive)
CD36+ (expression/positive)
CD41+ (expression/positive)
CD42b+ (expression/positive)
KIT (CD117)+ (expression/positive)

Treatments

Chemotherapy
Hematologic Transplant and/or Endocrine Procedures

Transformations to

There are no known transformations

Transformations from

There are no known transformations

Same Primaries

Corresponding ICD-10 Codes (Cause of Death codes only)

C92.0 Acute myeloid leukemia

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

C92.Z Other myeloid leukemia (effective October 01, 2015 - September 30, 2024)
C92.Z0 Other myeloid leukemia not having achieved remission (effective October 01, 2024)
C92.Z1 Other myeloid leukemia, in remission (effective October 01, 2024)
C92.Z2 Other myeloid leukemia, in relapse (effective October 01, 2024)

Signs and Symptoms

Easy bruising or bleeding
Fatigue
Fever
Petechiae
Shortness of breath
Thrombocytopenia
Weakness
Weight loss or loss of appetite

Diagnostic Exams

Bone marrow aspiration and biopsy
CT (CAT) scan
Cytogenetic analysis
Flow cytometry
Immunophenotyping
Lumbar puncture
Molecular analysis
Peripheral blood smear
Physical exam and history

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

WHO Classification of Tumours Editorial Board. Haematolymphoid tumours. Lyon (France): International Agency for Research on Cancer; 2024. (WHO classification of tumours series, 5th ed.; vol. 11). https://publications.iarc.who.int/637.
Section: Myeloid proliferations associated with Down syndrome
Pages: Part A: 182-183

International Classification of Diseases for Oncology, 3rd edition (including revisions). Geneva: World Health Organization, 2001, 2011, 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

PDQ® Adult Treatment Editorial Board. PDQ Acute Myeloid Leukemia Treatment. Bethesda, MD: National Cancer Institute. Updated <03/06/2024>. Available at: https://www.cancer.gov/types/leukemia/hp/adult-aml-treatment-pdq. Accessed <02/06/2025>. [PMID: 26389432]
Section: Acute Myeloid Leukemia Treatment (PDQ®)–Health Professional Version
Pages: https://www.cancer.gov/types/leukemia/hp/adult-aml-treatment-pdq
Glossary