Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 C5436668
A condition caused by changes in the SAMD9L gene that increases risk of bone marrow failure and leukemia. Ongoing medical monitoring is important. Treatment may include stem cell transplantation.
Key facts at a glance
- ICD-10
- D64.9
- ICD-11
- 3A00.0
- Body system
- hematologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Easy bruising or bleeding
Recurrent infections
Fatigue
(hematologic)Generalized symptoms
(hematologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Bone pain
(hematologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
High-Risk Hematologic Monitoring Protocol
Intensive surveillance schedule with frequent CBC, bone marrow evaluation, and molecular studies to detect early leukemic transformation in monosomy 7 syndrome.
Curative Stem Cell Transplantation
Allogeneic bone marrow transplant from matched related or unrelated donor performed before leukemic transformation when possible for best outcomes.
Additional treatment options
Growth Factor Support
Granulocyte colony-stimulating factors and erythropoiesis-stimulating agents to support blood cell production and reduce transfusion dependence.
medicationPsychosocial Oncology Support
Counseling and mental health support addressing anxiety, depression, and adjustment issues faced by patients and families dealing with cancer predisposition syndromes.
psychologicalProphylactic Antimicrobial Therapy
Antibiotic and antiviral prophylaxis during periods of neutropenia or immunosuppression to prevent opportunistic infections.
medicationWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 C5436668?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy