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H/O RC > BMF > Flashcards

BMF Flashcards

1
Q

List congenital and acquired BMFS (all cell lines)

A

inherited
- pancytopenia: FA, DKC, SDS
- RBC: DBA, cong dyserythropoeitic anemia, Pearson
- WBC: SCN, cyclic neutropenia
- plt: CAMT, TAR

Acquired
- SAA
- idiopathic: TEC, ITP

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2
Q

DBA vs TEC

A

DBA: newborn, other anom, macrocytic
TEC: 6mo-6yo, well, normocytic, spont resolution

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3
Q

SAA definition

A

BM cellularity <25% or 25-50% with <30% hematopoietic cells
and 2+ of:
- ANC <0.5 (very severe <0.2)
- retic <40 (1%)
- Plt <20

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4
Q

SAA HSCT indications

A

at dx if MSD available
IST failure

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5
Q

define IST (incl tox) and efficacy

A

ATG (horse), 40 mg/kg/d x4d
- allergic reaction, serum sickness (steroid proph), lymphopenia
CSA x12mo then taper, target 100-250
- HTN, hirsutism, gingival hypertrophy, hypoMg, T cell inhibition, nephrotox

70% response rate
5yOS 93% but 5yEFS 64%

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6
Q

PNH pathophys, presentation, tx

A

GPI deficiency (PIGA-1 mutation) = loss CD 55/59 –> lack of protection from complement mediated hemolysis

intravascular hemolysis, hemoglobinuria
large vessel thrombosis
aplastic anemia

HSCT: BMF, recurrent life threatening thrombosis, uncontrollable hemolysis
Eculizumab (anti C5)

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7
Q

IBMFS with predisposition to MDS

A

FA
DKC
SDS
DBA
GATA2, SAMD9, RUNX1
SCN
NF1, Bloom
Familial Monosomy 7

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8
Q

MDS common cytogenetic anomalies

A

monosomy 7
del7q
del5q

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9
Q

SAA malignancy risk

A

AML 10% at 10y

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10
Q

DBA pathophys, inheritance, malig risk, dx, tx (incl HSCT indications)

A

RPS19 (DBA1) mutation 25%
aut dom
AML/MDS 5%, osteosarcoma
elevated ADA

Pred
PRBC + chelation
HSCT: transf-dep, allo-imm, MDS/AML

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11
Q

FA pathophys, inheritance, malig risk, dx, tx (incl HSCT indications)

A

FA DNA repair genes, 60-70% FANCA
aut rec except FANC B (X) and FANC R (aut dom)
chromosomal breakage

HSCT: moderate BMF w MSD or severe BMF w MUD, MDS/AML

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12
Q

SDS pathophys, inheritance, malig risk, dx, tx (incl HSCT indications)

A

SBDS mutation (ribosome biogenesis)
aut rec
20y cumulative risk 12%
low ANC, macrocytic anemia, thrombocytopenia, exocrine pancreas dysfunction

GCSF
pancreatic replacement
HSCT: severe cytopenias, MDS w excess blasts, MDS/AML

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13
Q

DKC pathophys, inheritance, malig risk, dx, tx (incl HSCT indications)

A

telomere maintenance genes - DKC1 20-30%
X linked and others
20-30% malig by 50yo: SCC, MDS, MDS/AML
FISH telomere testing

HSCT: transfusion dependent

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14
Q

Pathophys of: FA, DKC, SDS, DBA, CAMT, MIRAGE

A

FA: DNA repair defect
DKC: impaired telomere maintenance (DKC1 most common)
SDS: ribosome biogenesis
DBA: ribosome biogenesis disorder
CAMT: thrombopoietin receptor defect
MIRAGE: SAMD9 defect

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15
Q

acquired aplastic anemia DDx

A

drugs: chemo, anticonvulsants
chemicals: benzene, solvents, pesticides
RT
infection: parvoB19, HIV, EBV, CMV, HHV6, hepatitis (nontypable)
immune: eosinophilic fasciitis, hypogamm, SLE, thymoma
PNH
B12/folate deficiency

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16
Q

Dx of: FA, DKC, SDS, DBA, PNH

A

FA: chromosomal breakage, genetics
DKC: telomere length
SDS: component features (pancreas, cytopenias)
DBA: elevated ADA, persistent i Ag, elevated EPO
PNH: flow CD 55/59

17
Q

SAA 2nd line therapies

A

alemtuzumab (anti CD52)
Cy
MMF

18
Q

DBA dx criteria

A

diagnostic:
- <1yo
- macrocytic anemia
- reticulocytopenia
- reduction/absence of BM erythroid precursors

Major
- pathogenic mutations
- FHx

Minor:
- elevated ADA
- congenital anomalies
- elevated HbF
- no other IBMFS

19
Q

DBA associated features

A

50% craniofacial: hypertelorism, flat nasal bridge, cleft palate, microcephaly, etc
40% skeletal: arm/hand/thumb, short stature
40% GU: absent or horseshoe kidney
30% cardiac: VSD< ASD, coarc

20
Q

FA associated features

A

40% skin: hyper/hypopig, cafe au lait
40% short stature
35% absent or hypoplastic thumb - if radii absent, thumb absent
25% axial skeletal anom
25% hypogonadism
20% eye: strabismus, hypo/hypertelorism
8% conductive hearing loss

21
Q

chromosomal breakage reagants

A

DEB: diepoxybutane
MMC: mitomycin C

22
Q

SDS associated features (not pancreatic)

A

skeletal: bell chest, metaphyseal chondrodysplasia, short stature
elevated transaminases
eczema
neurodevelopmental

23
Q

Pearson syndrome pathophys, features, tx

A

mitochondrial DNA deletion

refractory sideroblastic anemia by 6mo, with vacuolated precursors and ringed sideroblasts

observation, EPO, GCSF
(no HSCT)

24
Q

SDS pancreatic ix

A

<3yo serum trypsinogen, >3yo serum isoamylase
low fecal elastase
low ADEK
pancreatic lipomatosis (imaging)

25
Q

DKC associated features

A

Triad:
- nail dysplasia
- oral leukoplakia
- reticulated skin hyperpigmentation

pulmonary fibrosis
dental caries
bifid uvula
excessive tearing, cataracts, conjunctivitis, glaucoma, strabismus
alopecia
early greying
liver fibrosis, malabsorption
hpogonadism

H/O RC (31 decks)

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