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More than MDS: Under the Umbrella of Diagnosis
Posted: Dec 10, 2022
More than MDS: Under the Umbrella of Diagnosis image

This program presented by The Cleveland Clinic Taussig Cancer Institute and the Aplastic Anemia and MDS International Foundation will provide a review of research related to the biology, prognosis, natural history, and therapeutic management of patients with myeloid malignancy including PNH, MDS, AML, MPN, and related myeloid malignancies.

In this overview, we will navigate through syndromes under the MDS umbrella, and how integrative medicine can lead to a more efficient diagnosis resulting in a better prognosis and quality of life for the patients. 

The Ominous 4 letter Words: ICUS/CHIP/ARCH/CCUS 

ICUS (Idiopathic Cytopenia of Uncertain Significance): is a condition where there is a decrease in peripheral blood counts causing either anemia, leucopenia, thrombocytopenia, or pancytopenia. The cause of this condition cannot be determined. 

CHIP (Clonal Hematopoiesis with Indeterminate Potential):  is characterized by the presence of clonal mutations, minimal dysplasia, clonality, the absence of cytopenias, and few or no bone marrow blasts. CHIP is common in healthy individuals, with a risk for progression to MDS, acute myeloid leukemia, myeloproliferative neoplasms, or chronic myelomonocytic leukemia. 

ARCH (Age-Related Clonal Hematopoiesis): is defined as the expansion of HSPC clones, harboring specific, disruptive, and recurrent genetic variants, in individuals without clear diagnosis of hematological malignancies. ARCH occurs among the healthy elderly population, it is becoming clearer that ARCH is associated with a large number of pathological states, including an elevated risk for blood cancers. 

CCUS (Clonal Cytopenia of Unknown Significance): can be a precursor entity for MDS, and is defined as unexplained low blood cell count with evidence of clonal cells, no morphologic or cytogenetic evidence of dysplasia, but the presence of one or more myelodysplastic syndrome-related mutations. Several clinical trials and retrospective studies have studied the association of the mutation profiles to MDS or myeloid neoplasm. Progression to MDS/myeloid neoplasm occurred in 18% of patients with CCUS within 16 months, and progression to myeloid neoplasm occurred in 80% within 5 years. 

Paroxysmal Nocturnal Hemoglobinuria 

PNH is a rare blood disorder named for a single symptom: red/brown/dark urine noticed during late night or early morning. 

It affects about 6 per 1 million people each year, varying from men and women between the ages of 30 and 40. It is more common amongst people who have bone marrow disorders like aplastic anemia or myelodysplastic syndrome.

It is caused when a faulty gene called PIGA which makes red blood cells’ protective shield, originates in one stem cell and changes into an abnormal stem cell. This cell divides and makes other abnormal stem cells that produce abnormal red blood cells and platelets. Therefore, more red blood cells prone to breakage due to a faulty protective shield are in the bloodstream, and when they fall apart, the hemoglobin leaks into the bloodstream, in an abnormal amount that can’t be cleared, as well as the nitric oxide overflow. This translates as painful spasms, shortness of breath, anemia, and dark urine since the excess hemoglobin is excreted in the urine. Long-term excretion of hemoglobin can lead to kidney damage. 

The definite cure for paroxysmal nocturnal hemoglobinuria is a stem cell transplant, having a good quality of life and life expectancy after the transplant. 


Precursor conditions for hematological malignancies such as MDS, AML, and CLL were listed above. The correct clinical overview, risk stratification and early treatment of these precursor conditions can modify the long-term survival and quality of life of the patients. 


The author Jimena Vicencio

about the author
Jimena Vicencio

Jimena is an International Medical Graduate who is part of the HealthTree Patient Experience team. She loves learning new things led by her curiosity, playing with her pets, and exercising in her free time.

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