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Heme boards > Bone marrow failure syndromes > Flashcards

Bone marrow failure syndromes Flashcards

1
Q

Diamond blackfan anemia clinical features + lab features

A

Lab =
1) infant with progressive macrocytic anemia + reticulocytopenia
2) high EPO level (ineffective erythropoiesis)
Clinical
- congenital malformations (craniofacial abnormalities, thumb anomalies, cardiac anomalies, hypogonadism, intellectual disability)
- short stature
- predisposition to cancer
- bone marrow lacking RBC precursors

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2
Q

Diamond blackfan anemia pathophysiology

A
  • ribosomopathy (gene mutations affecting ribosome synthesis and processing)
  • ribosome defects reslts in activation of TP53 pathway, which impairs erythropoiesis
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3
Q

Diamond blackfan anemia diagnosis

A

Initial evaluation:
- Measurement of fetal hemoglobin (Hgb F; eg, by Hgb electrophoresis)
- Increased erythrocyte adenosine deaminase (eADA) activity
Confirmatory:
- genetic testing for mutations in genes associated with DBA
- bone marrow biopsy but not done at all centers

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4
Q

Diagnostic features of diamond blackfan anemia

A

1) Onset of anemia at age <1 year
2) Macrocytic anemia with no other significant cytopenias
3) Reticulocytopenia
4) Normal marrow cellularity with a paucity of erythroid precursors

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5
Q

Fanconi anemia mechanism

A

Defect in DNA repair and oxidative stress

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6
Q

Fanconi anemia gene mutations

A

FANCA
FANCC
FANC-G

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7
Q

Fanconi anemia clinical features

A
  • pancytopenia
  • short stature
  • microcephaly
  • cafe au lait spots
  • hypoplastic thumbs
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8
Q

Fanconi anemia sequelae

A

MDS
AML
ALL

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9
Q

Fanconi anemia diagnosis

A
  • chromosomal breakage studies using diepoxybutane (DEB) (CONFIRM), confirmed with genetic testing
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10
Q

Fanconi anemia treatment

A
  • steroids
  • danazol
  • transplant w/ low dose TBI conditioning and alkylating agent (cytoxan)
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11
Q

Dyskeratosis congenita mechanism

A
  • telomere maintenance dysfunction
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12
Q

Dyskeratosis congenita mutation

A

DKC1 gene mutation
OR TERC gene

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13
Q

Dyskeratosis congenita inheritance pattern

A

x linked or autosomal dominant

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14
Q

Dyskeratosis congenita clinical features

A
  • dyskeratotic hair, nails
  • leukoplakia
  • reticular rash
  • skin hypertrophy
  • ataxia
  • esophageal strictures
  • squamous cell carcinoma of head neck, GI, or GU tract
  • pulmonary fibrosis
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15
Q

Dyskeratosis congenita treatment

A
  • androgens
  • can be role for GCSF or ESA
  • transplant curative (ensure donor is not a silent carrier) w/ non-myeloablative conditioning
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16
Q

GATA2 1) lab features 2) monomac clinical features

A
  • monocytopenia
  • b and natural kill cell lymphocytopenia
  • mycobacterial infections
  • HPV leading to multiple warts
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17
Q

GATA2 treatment

A

stem cell transplant

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18
Q

GATA2 sequela

A

MDS, AML

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19
Q

Diamond blackfan mutations and inheritance

A

RPS19 gene (autosomal dominant)
OR
GATA1 (x-linked)

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20
Q

Diamond blackfan anemia treatment

A

steroids

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21
Q

Severe congenital neutropenia pathophys

A
  • misfolded neutrophil elastase, leading to neutrophil arrest at promyelocyte phase
22
Q

Severe congenital neutropenia mutation

A

ELAN

23
Q

Severe congenital neutropenia clinical features

A
  • *delayed cord separation at birth
  • recurrent infections
24
Q

Severe congenital neutropenia treatment

A

GCSF
transplant

25
Q

Schwachman-diamond syndrome CBC abnormality

A
  • congenital neutropenia
26
Q

Schwachman-diamond syndrome gene mutation

A

SBDS gene

27
Q

Schwachman-diamond syndrome clinical features

A
  • *neutropenia only
  • pancreatic insufficiency
  • skeletal deformities
  • cognitive dysfunction
  • Failure to thrive
28
Q

Schwachman-diamond syndrome treatment

A
  • GCSF
  • transplant
29
Q

Congenital amegakaryocytic thrombocytopenia mechanism

A

reduced megakaryocytes from defective response to TPO

30
Q

Congenital amegakaryocytic thrombocytopenia gene mutation

A

TPO receptor gene - CMPL gene

31
Q

Congenital amegakaryocytic thrombocytopenia treatment

A

transplant
plt transfusions

32
Q

wiskott aldrich clinical features

A

thrombocytopenia
immunodeficiency
eczema
GI bleeds

33
Q

wiskott aldrich treatment

A

IVIG for infections
splenectomy
transplant

34
Q

Germline mutation commonly assocaited with Monosomy 7 MDS in young adult patients

A

GATA2

35
Q

General clinical features of inherited bone marrow failure syndromes

A

typically slow symptom onset + longer history/variably low blood counts + developmental or other organ system abnormalities

36
Q

Genes associated with Diamond-Blackfan anemia

A

RPL - 5, 11,19
RPS - 10, 19

37
Q

Very severe aplastic anemia criteria

A

ANC <200
*think this is the threshold below which pts are at risk of severe infection and death

38
Q

Basic aplastic anemia algorithm since 1990s

A

IF <40 years (and typically matched related donor) →
IF rapidly available MRD (only 15-30%), proceed directly Allo-HSCT
IF unavailable → immune suppression as bridge to allo-HSCT (process can take 6-8 weeks)
IF count recovery and no clonal evolution, wean immunosuppressive therapy and observe
IF refractory/relapse/MDS develops, haploidental or Unrelated donor SCT

39
Q

What is triple IST for aplastic anemia?

A

Equine ATG + cyclosporine + eltrombopag

40
Q

Sequelae of bone marrow failure disorders

A
  • all have a high risk of cancer: MDS/AML
    *Also solid tumors in FA, DC, and SDS
  • hypersensitivity to radiation and chemo in most as well
41
Q

Fanconi anemia inheritance

A
  • most autosomal recessive
42
Q

Pathway fanconi anemia is related to

A

BRCA2
BRCA2 gene = FANCD1 gene

43
Q

Subtype of fanconi anemia associated with T-ALL

A

FANCD1 (Biallelic BRCA2)

44
Q

sequelae of telomere disorders and dyskeratosis congenita

A

1000x risk of head/neck cancers
- also derm and anorectal

45
Q

Diamond blackfan anemia and malignancy association

A

At risk of lower GI + osteosarcoma

46
Q

SCN bone marrow

A

neutrophil arrest at promyelocyte stage

47
Q

Cyclic neutropenia clinical features

A
  • mouth ulcers
  • interval fevrs
48
Q

Severe congenital neutropenia treatment

A
  • GCSF can normalize ANC but at a cost (severe osteopenia, splenomegaly, high risk of progression to MDS/AML)
    *so need transplant
    *SCT outcomes much better before MDS/AML
49
Q

congenital amegakaryocytic thrombocytopenia gene mutation

A

c-MPL (TPO receptor)

50
Q

Schwachman diamond syndrome genetic associations

A
  • biallelic TP53 mutations
  • del(7q)

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