Search Database ICD-O-3 Code Lists

Name

Myelodysplastic /myeloproliferative neoplasm with low blasts and SF3B1 mutation

ICD-O-3 Morphology

9982/3: Myelodysplastic syndrome with ring sideroblasts and single lineage dysplasia
Effective 2001 and later

Reportable

for cases diagnosed 2001 and later

Primary Site(s)

C421
Primary site must be bone marrow (C421)

Coding Manual: Hematopoietic Coding Manual (PDF)

Abstractor Notes

Myelodysplastic syndrome with ring sideroblasts and single lineage dysplasia (MDS-RS-SLD) is part of the Myelodysplastic neoplasm's lineage table in the WHO 5th edition of Hematolymphoid Tumors. (See Appendix B in the Hematopoietic Manual, Table B4)

New preferred terminology for this histology is the MDS with low blasts and SF3B1 mutation.

The principle sites of involvement are the peripheral blood and bone marrow.

For MDS diseases (9980, 9982, 9983, 9985, 9986, 9989, 9991, 9992,9993), abstracting each of the subtypes would result in over-counting of the diseases.

1. Code only the first subtype that is diagnosed.
2. Do not change the histology code or create a new abstract for any subsequent specific MDS subtypes.

Hematologic Transplant and/or Endocrine Procedures treatments include bone marrow and stem cell transplants.

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

None

Alternate Names

Myelodysplastic neoplasm (MDS) with low blasts and ring sideroblasts
Myelodysplastic syndrome with ring sideroblasts, NOS (MDS-RS)
Myelodysplastic/myeloproliferative neoplasm (MDS/MPN) with ring sideroblasts and thrombocytosis)
Myelodysplastic/myeloproliferative neoplasm (MDS/MPN) with SF3B1 mutation and thrombocytosis
Myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis
Myelodysplastic syndrome with ring sideroblasts and single lineage dysplasia (MDS-RS-SLD)
Refractory anemia with ring sideroblasts, NOS (RARS)
Refractory anemia with sideroblasts

Definition

Myelodysplastic neoplasm (MDS) with low blasts and SF3B1 mutation (MDS-SF3B1) is a myeloid neoplasm with cytopenia, and dysplasia characterized by SF3B1 mutation and often ring sideroblasts. (WHO 5th edition)

Definitive Diagnostic Methods

Cytogenetics
Genetic testing
Histologic confirmation

Genetics Data

SF3B1 mutation

Immunophenotyping

None

Treatments

Chemotherapy
Hematologic Transplant and/or Endocrine Procedures
Immunotherapy

Transformations to

Transformations from

None

Same Primaries

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

D46.1 Refractory anemia with sideroblasts

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

D46.1 Refractory anemia with sideroblasts (effective October 01, 2015)

Signs and Symptoms

Easy bruising or bleeding
Petechiae (flat, pinpoint spots under the skin caused by bleeding)
Shortness of breath
Skin paler than usual
Weakness or feeling tired

Diagnostic Exams

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

Progression and Transformation

~1-2% of cases evolve to acute myeloid leukemia

Epidemiology and Mortality

Age: 60-73 years median age
Incidence: 3-11% of MDS cases
Sex: no male or female predominance
Survival: 69-108 months median survival

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: Myelodysplastic neoplasms
Pages: Part A: 78-79

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 Myelodysplastic Syndromes Treatment. Bethesda, MD: National Cancer Institute. Updated <09/19/2024>. Available at: https://www.cancer.gov/types/myeloproliferative/hp/myelodysplastic-treatment-pdq. Accessed <02/05/2025>. [PMID: 26389450]
Section: Myelodysplastic Syndromes Treatment (PDQ®)–Health Professional Version
Pages: https://www.cancer.gov/types/myeloproliferative/hp/myelodysplastic-treatment-pdq#top
Glossary