Mds Flashcards
Myelodysplastic Neoplasm w/ Low Blasts and Isolated 5q Deletion
(MDS-5q)
- This occur in isolation or in the presence of another cytogenetic abnormality
- predominantly_____
- median age of____
females
67
- This occur in isolation or in the presence of another cytogenetic abnormality
- predominantly females
- median age of 67
Myelodysplastic Neoplasm w/ Low Blasts and Isolated 5q Deletion
(MDS-5q)
patients typically have anemia without other cytopenias and dysplastic megakaryocytes
Myelodysplastic Neoplasm w/ Low Blasts and Isolated 5q Deletion
(MDS-5q)
peripheral blood and bone marrow
- less than 2% blasts and less than 5% blasts, respectively
> Patients classified at lower nrisk than many other MDS
> median survival - 54 to 146 months
Myelodysplastic Neoplasm w/ Low Blasts and Isolated 5q Deletion
(MDS-5q)
Myelodysplastic Neoplasm w/ Low Blasts and Isolated 5q Deletion
(MDS-5q)
peripheral blood and bone marrow
- less than_____ blasts and less than____ blasts, respectively
> Patients classified at lower nrisk than many other MDS
> median survival -_____
2%; 5%
54 to 146 months
- 90% of the cases of MDS with
- 17% of all MDS
- > 5% ring sideroblasts in the bone marrow
Myelodysplastic Neoplasm w/ Low Blasts and SF3B1 Mutation
Myelodysplastic Neoplasm w/ Low Blasts and SF3B1 Mutation
-____% of the cases of MDS with
-____% of all MDS
-____% ring sideroblasts in the bone marrow.
90
17
> 5
> Patients have anemia and dyserythropoiesis
> peripheral blood
- demonstrates a dimorphic picture, with a mixed population of hypochromic cells and normochromic cells.
Myelodysplastic Neoplasm w/ Low Blasts and SF3B1 Mutation
> peripheral blood
- demonstrates a dimorphic picture, with a mixed population of hypochromic cells and normochromic cells.
Myelodysplastic Neoplasm w/ Low Blasts and SF3B1 Mutation
Myelodysplastic Neoplasm w/ Low Blasts and SF3B1 Mutation
- Median age between…
70 and 75 years old
Myelodysplastic Neoplasm w/ Biallelic TP53 Inactivation
- multi-hit mutation of both copies of the______, or
- mutation of one copy followed by deletion of the other copy
tumor suppressor gene TP53
- multi-hit mutation of both copies of the tumor suppressor gene TP53, or
- mutation of one copy followed by deletion of the other copy
Myelodysplastic Neoplasm w/ Biallelic TP53 Inactivation
Myelodysplastic Neoplasm w/ Biallelic TP53 Inactivation
_______> leads to genomic instability
- Contributes to most patients with complex karyotypes and a poor prognosis
Loss of wild-type TP53
_______> leads to genomic instability
- Contributes to most patients with complex karyotypes and a poor prognosis
Loss of wild-type TP53
- presence of cytopenia and dysplasia (at least one cell lineage)
- bone marrow - less than 5% blasts
- peripheral blood - less than 2% blasts.
Myelodysplastic Neoplasm w/ Low Blasts
Myelodysplastic Neoplasm w/ Low Blasts
- presence of_____ and _____ (at least one cell lineage)
- bone marrow - less than___ blasts
- peripheral blood - less than____ blasts.
cytopenia and dysplasia
5%
2%
Myelodysplastic Neoplasm w/ Low Blasts
(2)
- recommended for prognostic evaluation
• Molecular and cytogenetic evaluations
- associated with an age-adjusted, profoundly hypocellular bone marrow.
- hypocellularity is the result of T-cell mediated targeting of HSCs
Myelodysplastic Neoplasm, Hypoplastic
Myelodysplastic Neoplasm, Hypoplastic
- associated with an age-adjusted, profoundly hypocellular bone marrow.
- hypocellularity is the result of_____ mediated targeting of HSCs
T-cell
• Cytogenetic and molecular diagnostic testing
- necessary to distinguish MDS-h ( Myelodysplastic Neoplasm, Hypoplastic )
from______ and _____
aplastic anaemia and paroxysmal nocturnal hemoglobinuria
Childhood Myelodysplastic Neoplasm w/ Low Blasts
- younger than____ years are Uncommon
- characterized by (2)
18
cytopenia, dysplasia,
Childhood Myelodysplastic Neoplasm w/ Low Blasts
• Cytogenetic and molecular diagnostic testing
- helpful in differentiating MDS-LB from (3)
bone marrow failure syndromes, germline disorders and
metabolic diseases
- more likely to have RAS-pathway mutations than MDS-LB
Childhood Myelodysplastic Neoplasm w/ Increased Blasts
Chronic Myelomonocytic Leukemia
- persistent monocytosis of more than______
0.5 x 109/L
