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Heme / Onc > SM_268: MDS > Flashcards

SM_268: MDS Flashcards

1
Q

Myelodysplastic syndrome is ___

A

Myelodysplastic syndrome is group of diseases caused by abnormal growth of abnormal-looking myeloid cells

  • Myeloid neoplasm
  • Myeloid cells: erythrocytes, granulocytes and monocytes, megakaryocytes
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2
Q

Describe myeloid neoplasms

A

Myeloid neoplasms

  • Chronic myeloid leukemia and myeloproliferative neoplasms
  • Acute myeloid neoplasms
  • Myelodysplastic syndrome
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3
Q

Chronic myeloid leukemia and myeloproliferative neoplasms are ___

A

Chronic myeloid leukemia and myeloproliferative neoplasms are overgrowth of neoplastic myeloid cells in the bone marrow with full maturation and blood cytosis

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4
Q

Acute myeloid leukemia is ___

A

Acute myeloid leukemia is overgrowth of neoplastic myeloid precursors (blast) in bone marrow without maturation and circulating blasts in blood

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5
Q

Describe myelodysplastic syndrome

A

Myelodysplastic syndrome: group of clonal hematopoietic stem cell neoplasms characterized by

  • Peripheral cytopenia: ineffective hematopoiesis in the bone marrow
  • Morphologic dysplasia: abnormal looking cells in myeloid cell lines
  • Risk of transformation to acute myeloid leukemia
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6
Q

In normal hematopoiesis, a myeloid stem cell undergoes ___

A

In normal hematopoiesis, a myeloid stem cell undergoes a series of ordered and well-controlled differentiation and maturation steps to produce mature blood cells

(RBCs, neutrophils, and platelets)

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7
Q

In myelodysplastic syndrome, ____ in a single stem cell ____ and confer a growth advantage

A

In myelodysplastic syndrome, genetic changes in a single stem cell disrupt normal maturation and confer a growth advantage

  • Bone marrow is replaced by progenies of the abnormal stem cell
  • Abnormal stem cells have deranged maturation and are not able to produce mature blood cells
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8
Q

In myelodysplastic syndrome, there is an increased degree of ___ within bone marrow precursors

A

In myelodysplastic syndrome, there is an increased degree of apoptosis within bone marrow precursors

  • Ineffective hematopoiesis
  • Anemia, neutropenia, and thrombocytopenia
  • Disease worsens over time
  • MDS patients eventually succumb to complications of cytopenia
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9
Q

Chronic myeloid leukemia and myeloproliferative neoplasm involves ____

A

Chronic myeloid leukemia and myeloproliferative neoplasm involves cytosis (< 20% blasts)

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10
Q

Acute myeloid leukemia involve ___

A

Acute myeloid leukemia involve increased blasts (> 20% blasts)

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11
Q

Myelodysplastic syndrome involves ___

A

Myelodysplastic syndrome involves cytopenia (< 20% blasts)

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12
Q

Myelodysplastic syndromes typically occur at age ___

A

Myelodysplastic syndromes typically occur at age 70

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13
Q

Describe risk factors for myelodysplastic syndrome

A

Myelodysplastic syndrome risk factors

  • De novo (85%): etiology largely unknown, benzene and tobacco
  • Therapy-related MDS (t-MDS): arises after treatment with chemo or radiation therapy
  • Rare cases of familial MDS which are associated with germline mutations in RUNX1, CEBPA, GATA2, and other genes
  • Some inherited disorders such as Fanconi anemia, dyskeratosis congenita have increased risk of MDS
  • Acquired aplastic anemia is associated with increased risk of developing MDS
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14
Q

Describe clinical features of MDS

A

MDS clinical features

  • Anemia: fatigue, SOB, chest pain, palpitations, dizziness, and syncope
  • Neutropenia: recurrent or severe infection
  • Thrombocytopenia: petechiae, bruising, bleeding
  • Organomegaly is infrequent
  • Slow-onset and long-standing
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15
Q

Describe diagnostic evaluation of MDS

A

Diagnostic evaluation of MDS

  • Clinical history
  • CBC and blood smear review: anemia, neutropenia, and thrombocytopenia
  • Reticulocyte count: low
  • Laboratory tests
    • Iron studies: no iron deficiency
    • B12, folate levels: normal
    • Copper level: normal
  • Bone marrow aspirate and biopsy (morphologic evaluation): dysplasia, blast count
  • Cytogenetics: chromosomal aberrations
  • Molecular studies: gene mutations
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16
Q

Describe MDS morphology

A

MDS morphology

  • Hypercellular
  • Erythroid hyperplasia (increased erythroid precursors)
  • Dysplastic megakaryocyte
17
Q

Describe erythroid dysplasia in MDS

A

Erythroid dysplasia in MDS

  • Nuclear budding
  • Internuclear bridging
  • Multinucleation
  • Bizarre nuclei
  • Ring sideroblasts (iron)
18
Q

Describe granulocytic dysplasia in MDS

A

Granulocytic dysplasia in MDS

  • Hyposegmentation (pseudo Pelger-Huet)
  • Hypogranularity
19
Q

Describe megakaryocytic dysplasia

A

Megakaryocytic dysplasia

  • Small and hypolobulated nuclei
  • Separate nuclear lobes
20
Q

Recurrent chromosomal abnormalities are more common in ____ than MDS

A

Recurrent chromosomal abnormalities are more common in treatment-related MDS than MDS

  • -7 or del(71), del(5q),+8, i(17q) or t(17p), t(11q23;v)
21
Q

Genetic aberrations in MDS involve ___

A

Genetic aberrations in MDS involve gain or loss of a chromosome or part of a chromosome

  • Copy number changes in key genes may contribute to MDS
22
Q

Describe del(5q) in MDS

A

Del(5q) in MDS

  • Loss of long arm of chromosome 5 leads to haploinsufficiency in a number of genes including ribosomal protein RPS14: loss of one coppy of RPS14 causes ineffective erythropoiesis resulting in macrocytic anemia
  • Haploinsufficiency of miR145 and miR146a in the 5q region may contribute to megakaryocytic abnormalities
23
Q

Describe recurrent gene mutations in MDS

A

Recurrent gene mutations in MDS

24
Q

Describe dyserythropoiesis in benign conditions

A

Dyserythropoiesis in benign conditions

  • B12 / folate deficiency
  • Exposure to heavy metals (arsenic)
  • Copper deficiency
  • Zinc deficiency
  • Chemotheraoy
  • Certain medications (isoniazid)
  • Congenital dyserythropoietic anemia
25
Q

Describe dysplastic neutrophils in benign conditions

A

Dysplastic neutrophils in benign conditions

  • B12 / folate deficiency
  • G-CSF
  • Antibiotics: co-trimoxazone
  • Immunosuppressants
  • Chemo
26
Q

MDS diagnosis requires that ____

A

MDS diagnosis requires that non-neoplastic causes of cytopenia and dysplasia have been ruled out, particularly if no cytogenetic abnormalities are present

27
Q

Describe WHO classification of MDS

A

WHO classification of MDS

  • MDS with single lineage dysplasia: BM < 5% blasts
  • MDS with multilineage dysplasia: BM < 5% blasts
  • MDS with ring sideroblasts: BM < 5% blasts
  • MDS with isolated del(5q): BM < 5% blasts
  • MDS with excess blasts
    • MDS-EB-1: BM 5-9% or PB 2-4%
    • MDS-EB-2: blasts 10-19% or PB 5-19%
28
Q

Describe prognosis of MDS

A

MDS prognosis

  • Heterogeneous, highly variable natural history
  • Median survival of de novo: 9-29 months
  • Median survival of therapy-related: 4-8 months
  • Some have indolent course and live for more than 5 years
29
Q

Describe morphologic risk groups of MDS

A

Morphologic risk groups of MDS

  • Low risk: MDS with single lineage dysplasia, MDS with ring sideroblasts
  • Intermediate risk: MDS with multilineage dysplasia, MDS withe xcess blasts-1 (5-9%)
  • High risk: MDS with excess blasts-2 (10-19%)
30
Q

___, ___, and ___ are most important prognostic factors for MDS

A

Blast count, cytogenetic abnormalities, and gene mutations are most important prognostic factors for MDS

31
Q

MDS treatment depends on ___

A

MDS treatment depends on symptoms, risk scores, performance status, and other facvtors

  • Asymptomatic low risk patients may be followed without treatment
  • Symptomatic patients: supportive care, low intensity therapy, or high intensity therapy
32
Q

Describe myelodysplastic syndrome with isolated del(5q)

A

Myelodysplastic syndrome with isolated del(5q)

  • Women more commen
  • Macrocytic anemia: normal or increased platelets
  • Increased megakaryocytes with hypo- or unilobulated nuclei
  • Median survival: 66-145 months
  • Lenalidomide is effective
33
Q

Describe MDS with excess blasts

A

MDS with excess blasts

  • 40% of all MDS
  • Cytogenetic abnormalities in 30-50%
  • Prognosis: progressive bone marrow failure, progression to AML common, and median survival is 9-16 months
34
Q

Summarize MDS

A

MDS

  • Clonal hematopoietic stem cell neoplasm
  • Affects older individuals
  • Always has cytopenia
  • Always has morphologic dysplasia
  • Most important prognostic factors: percentage of blasts, cytogenetic abnormalities
  • Likely due to acquired genetic aberrations that result in ineffective hematopoiesis

Heme / Onc (41 decks)

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