Name

Myelodysplastic neoplasm with low blasts and 5q deletion (MDS-5q)

ICD-O-3 Morphology

9986/3: Myelodysplastic syndrome associated with isolated del (5q)
Effective 2001 and later

Reportable

for cases diagnosed 2001 and later

Primary Site(s)

C421
Primary site must be bone marrow (C421)

Abstractor Notes

Myelodysplastic neoplasm with low blasts and 5q deletion (MDS-5q) 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)

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.

Diagnostic Confirmation

This histology can only be determined by positive genetics and/or immunophenotyping, diagnostic confirmation will always be 3.

Module Rule

None

Alternate Names

Myelodysplastic syndrome associated with isolated del(5q) (MDS-5q)
Myelodysplastic syndrome with 5q deletion (5q-syndrome)

Definition

Myelodysplastic neoplasm (MDS) with low blasts and 5q deletion (MDS-5q) is a myeloid neoplasm with cytopenia and dysplasia, characterized by chromosome 5q deletion occurring in isolation or with one additional cytogenetic abnormality other than monosomy 7 or 7q deletion. (WHO 5th edition)

Definitive Diagnostic Methods

Cytogenetics
Genetic testing

Genetics Data

Immunophenotyping

Immunophenotyping not relevant, diagnosed via genetic analysis

Treatments

Chemotherapy
Hematologic Transplant and/or Endocrine Procedures
Immunotherapy

Transformations from

None

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

D46.7 Other myelodysplastic syndromes

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

D46.C Myelodysplastic syndrome with isolated del(5q) chromosomal abnormality (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

<10% of cases transform to AML

Epidemiology and Mortality

Age: 67 years median age
Incidence: accounts for 2.5% of all MDS cases
Sex: female predominance
Survival: 145 month 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: 76-77

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
Glossary