Name

Myelodysplastic syndrome with isolated del(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)

Grade

Not Applicable

Module Rule

None

Alternate Names

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

Definition

Bone marrow dysplasia showing refractory macrocytic anemia with oval macrocytes and nonlobulated megakaryocytes. 75% of patients have increased cellularity of marrow. One third of patients have chromosomal abnormality that consists of deletion of the long arm of chromosome 5 (5q). Marrow blasts <5%.
Platelet count normal to elevated
No Auer rods
Normal to increased megakaryocytes

Abstractor Notes

MDS with associated del(5q) is an MDS involves that blood and bone marrow.

For MDS diseases (9980, 9982, 9983, 9985, 9986, 9989, 9991, 9992), 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

Recently the thalidomide analog lenalidomide has been shown to benefit MDS patients. Transfusion independence was achieved in two-thirds of patients.

Definitive Diagnostic Methods

Bone marrow biopsy
Genetic testing

Genetics Data

Deletion between bands q31 and q33 on chromosome 5

Immunophenotyping

None

Treatments

Chemotherapy
Hematologic Transplant and/or Endocrine Procedures
Immunotherapy

Transformations from

None

Corresponding ICD-9 Codes

238.74 Myelodysplastic syndrome with 5q deletion

Corresponding ICD-10 Codes

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

Progression and Transformation

<10% of cases transform to AML

Epidemiology and Mortality

Age: 67 years median age
Sex: female predominance

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: Myelodysplastic syndromes
Pages: 115-16

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 Myelodysplastic Syndromes
Pages: https://www.cancer.gov/types/myeloproliferative/patient/myelodysplastic-treatment-pdq
Glossary