Page 25 - 2020_07-Haematologica-web

Personalized management of MDS
tion/year.11 The median age, 71 years, was similar to that of the Revised International Prognostic Scoring System (IPSS-R) cohort.12 More recent population-based reports show median ages of 75-76 years. A Swiss study showed an incidence of 3.6 cases per million.13 A Swedish study described 1,329 patients with MDS or MDS-MPN, corre- sponding to a crude annual incidence of 2.9 cases per 100,000 population.14 The lower incidence reflects that patients were double-reported from hematology and pathology departments, with non-MDS differential diag- noses most likely being excluded. In all registries the inci- dence sharply increases with age, making MDS one of the most common blood cancers in the elderly population.
The clinical presentation mainly consists of symptoms caused by cytopenia. According to the Swedish Registry 11% and 42% of newly diagnosed patients had hemoglo- bin levels <8 g/dL and 8-10 g/dL, respectively, and 50% needed erythrocyte transfusions, 40% had platelet counts below 100x109/L, 5% received platelet transfusions, and 20% had neutrophil counts <0.8x109/L.14 Hence, symp- toms of anemia, such as dyspnea and fatigue, dominate the clinical picture. Bleeding complications and infections become more pronounced during the course of disease. In a recent survey, 309 consecutive patients received a total of 11,350 red cell units and 1,956 platelet units over 777 person-years of follow-up, corresponding to an overall transfusion intensity of 14.6 and 2.5 units/person-year for red blood cells and platelets, respectively.15
Table 3. World Health Organization classification of myelodysplastic syndrome.
Some MDS patients present with systemic inflammato- ry and autoimmune diagnoses before, in conjunction with, or after the diagnosis of MDS.16 A recent French sur- vey of 123 patients with MDS and systemic inflammatory and autoimmune diagnoses reported systemic vasculitis in 32%, connective tissue disease in 25%, inflammatory arthritis in 23%, and neutrophilic disorders in 10% of cases. A significant association was shown between chronic myelomonocytic leukemia and systemic vasculi- tis. Other symptoms and findings encompassed fever, skin abnormalities including Sweet syndrome, and bleeding due to disturbed coagulation, as recently reviewed.17 It is important to recognize the MDS diagnosis in these patients, since intervention with corticosteroids and azac- itidine may relieve symptoms.
Quality of life
MDS is a disease with a significant impact on every-day life due to cytopenia and the substantial risk of a fatal out- come. Recent studies provide important information about the quality of life in MDS. Troy et al. assessed the NCCN distress thermometer and problem list scores in 110 patients.18 The three most frequently reported symp- toms were fatigue, pain and worry. Stauder et al. used the prospective European LeukemiaNet Registry to compare health-related quality of life in 1,690 consecutive patients
Name
MDS with single lineage dysplasia
MDS with multilineage dysplasia
MDS with ring sideroblasts (MDS-RS)
MDS-RS with single lineage dysplasia
MDS-RS with multilineage dysplasia
MDS with isolated del(5q)
MDS with excess blasts (MDS-EB)
MDS-EB-1
MDS-EB-2
MDS, unclassifiable (MDS-U) MDS-U with 1% blood blasts
MDS-U with single lineage dysplasia
Dysplastic lineages
1
2 or 3
1
2 or 3
1-3
0-3
0-3
1-3
1
Cytopenias*
1 or 2
1-3
1 or 2
1-3
1-2
1-3
1-3
1-3
3
0
1-3
Ring sideroblasts as % of marrow erythroid elements
<15%/ <5%†
<15%/ <5%†
≥15%/≥5%† ≥15%/≥5%† None or any
None or any
None or any
None or any
None or any
1-3 None
BM and PB blasts
BM <5%, PB <1%, no Auer rods
BM <5%, PB <1%, no Auer rods
BM <5%, PB <1%, no Auer rods
BM <5%, PB <1%, no Auer rods
BM <5%, PB <1%, no Auer rods
BM 5%-9% or PB 2%-4%, no
Auer rods
BM 10%-19% or PB 5%-19% or Auer rods
BM <5%, PB 1%,‡ no Auer rods
BM <5%, PB <1%, no Auer rods
≥15%§
BM <5%, PB <2%
Cytogenetics by conventional karyotype analysis
Any, unless fulfills all criteria for MDS with isolated del(5q)
Any, unless fulfills all criteria for
MDS with isolated del(5q)
Any, unless fulfills all criteria for
MDS with isolated del(5q)
Any, unless fulfills all criteria for MDS with isolated del(5q)
del(5q) alone or with 1 additional
abnormality except -7 or del(7q)
Any
Any
Any
Any
BM <5%, PB <1%, no Auer rods MDS-defining abnormality
Any
and pancytopenia
MDS-U based on defining cytogenetic abnormality
Refractory cytopenia of childhood 1-3
*Cytopenias defined as: hemoglobin <10 g/dL; platelet count <100 x109/L; and absolute neutrophil count <1.8 x 109/L. Rarely, myelodysplastic syndrome may present with mild anemia or thrombocytopenia above these levels.The peripheral blood monocyte count must be <1 x 109/L.†If SF3B1 mutation is present.‡One percent peripheral blood blasts must be recorded on at least two separate occasions.§Cases with ≥15% ring sideroblasts by definition have significant erythroid dysplasia,and are classified as myelodysplastic syndrome with ringed siderob- lasts with single lineage dysplasia. BM: bone marrow; PB: peripheral blood.
haematologica | 2020; 105(7)
1767