Diagnosis and Stem Cell Transplantation in MDS

Diagnosis

• Typically diagnosed through a combination of:
  • Complete Blood Count (CBC) and blood smear analysis
  • Bone marrow biopsy and aspiration
  • Cytogenetic analysis (e.g., chromosomal analysis)
• Diagnosis based on World Health Organization (WHO) criteria, which includes:
  • Dysplastic changes in ≥ 1 hematopoietic cell lineages
  • Cytopenias (anemia, neutropenia, thrombocytopenia)
  • Blast cells in peripheral blood or bone marrow ≥ 5%

Stem Cell Transplantation

• Allogenic stem cell transplantation (allo-SCT) is a potentially curative treatment option
• Indications for allo-SCT:
  • High-risk MDS
  • Multiple relapses
  • Failure of other treatments
• Reduced-intensity conditioning (RIC) regimens are often used to reduce toxicity

Prognosis

• Prognosis varies depending on:
  • IPSS (International Prognostic Scoring System) score
  • Cytogenetic risk group
  • Response to treatment
• Median overall survival ranges from 0.4 to 5.3 years, depending on IPSS score
• Patients with low IPSS scores have a better prognosis

Gene Mutations

• MDS is characterized by genetic mutations, including:
  • Chromosomal abnormalities (e.g., del(5q), -7, +8)
  • Gene mutations (e.g., ASXL1, TET2, TP53)
• Mutations can affect hematopoietic stem cell function and differentiation
• Genetic testing can help guide treatment decisions and prognosis

Treatment Options

• Supportive care:
  • Blood transfusions
  • Growth factors (e.g., erythropoietin)
• Low-intensity therapies:
  • Hypomethylating agents (e.g., azacitidine, decitabine)
  • Lenalidomide
• High-intensity therapies:
  • Chemotherapy (e.g., anthracycline-based regimens)
  • Allogenic stem cell transplantation (allo-SCT)
• Investigational therapies:
  • Targeted therapies (e.g., JAK2 inhibitors)
  • Immunotherapies (e.g., checkpoint inhibitors)

Diagnosis

• Diagnosis involves a combination of CBC, blood smear analysis, bone marrow biopsy and aspiration, and cytogenetic analysis
• Dysplastic changes in ≥ 1 hematopoietic cell lineages, cytopenias, and blast cells in peripheral blood or bone marrow ≥ 5% are key diagnostic criteria
• Diagnosis is based on World Health Organization (WHO) criteria

Stem Cell Transplantation

• Allogenic stem cell transplantation (allo-SCT) is a potentially curative treatment option for high-risk MDS, multiple relapses, and failure of other treatments
• Reduced-intensity conditioning (RIC) regimens are used to reduce toxicity

Prognosis

• Prognosis varies depending on IPSS score, cytogenetic risk group, and response to treatment
• Median overall survival ranges from 0.4 to 5.3 years, depending on IPSS score
• Patients with low IPSS scores have a better prognosis

Gene Mutations

• MDS is characterized by genetic mutations, including chromosomal abnormalities (e.g., del(5q), -7, +8) and gene mutations (e.g., ASXL1, TET2, TP53)
• Genetic mutations affect hematopoietic stem cell function and differentiation
• Genetic testing guides treatment decisions and prognosis

Treatment Options

• Supportive care includes blood transfusions and growth factors (e.g., erythropoietin)
• Low-intensity therapies include hypomethylating agents (e.g., azacitidine, decitabine) and lenalidomide
• High-intensity therapies include chemotherapy (e.g., anthracycline-based regimens) and allogenic stem cell transplantation (allo-SCT)
• Investigational therapies include targeted therapies (e.g., JAK2 inhibitors) and immunotherapies (e.g., checkpoint inhibitors)