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Flashcards in Heme/Onc Deck (63)
1

Fanconi anemia

Pancytopenia!
- macrocytic RBC
- hypocellular bone marrow

Autosomal recessive

Aplastic anemia + bone marrow fail

Sx:
Short
Microcephaly
Abnl thumbs
Hearing loss
Microphthalmia
thrombocytopenia --> neutropenia --> anemia

Dx:
- Chromosomal breaks on genetic analysis in presence of diepoxybutane

Tx:
- transfusions
- abx
- steroids
- bone marrow transplant

Complication:
AML

2

#1 RBC enzyme deficiency causing anemia

G6PD

3

Iron deficiency anemia

Microcytic hypochromic

Usually 6-24 mo old

#1 cause = inadequate intake of iron
Usually on diet of milk

4

Iron deficiency anemia
- signs
- dx
- tx

Pale
Tachy
Koilonychia (spoon nails)

Dx
- retic count (minimal)
- CBC
- LOW serum iron and ferritin
- TIBC high

Tx
- ferrous sulfate (6 mg/kg/d)
- reticulocytosis should be seen within 72 h of start of ferrous sulfate
- get retic count 5d after starting iron
- Hg increase in 3-4 weeks
- continue iron for 4-5 months after Hb level returned to normal
- check Hct 1 mo after starting therapy

If iron therapy doesn't work, consider Meckels

5

Hemolytic anemia

Premature destruction (eg spherocytosis) vs. enzymatic (G6PD)

6

Hereditary spherocytosis labs

Spherocytes

Increased
- retic count
- indirect bilirubin
- LDH

Decreased
- haptoglobin

Negative coombs

Osmotic fragility test +

7

G6PD labs

Blister cells

Reticulocytosis

8

Tx spherocytosis

Folate

Splenectomy for severe but only do > 5 yo

Remember to give vaccines for
- pneumo
- meningo
- Hib

9

Tx G6PD

Avoid triggers (sulfas, fava beans, high dose ASA, antimalarials)

Oral folic acid

Splenectomy w/ chronic disease

10

Sickle Cell disease

Valine --> glutamic acid @ 6th position of Beta chain

Sickling when oxygen low

NO features as newborn since HbF still there
Sx 2-4 months

11

Sickle cell sx

Dactylitis (swelling)

Autoinfarct of spleen --> encapsulated organism infection prone

Vasoocclusive episodes

Gallstones 2/2 increased bile production from chronic hemolysis

Prone to salmonella osteo

Aplastic crisis (2/2 parvovirus, etc)

12

Tx sickle cell

Maintenence:
- Immunize
- Ppx w/ PCN until 5 yo
- folic acid suppement
- hydroxyurea for pts w/ recurrent vascoocclusive events

Acute pain crises
- hydration
- analgesia
- transfusion

Fevers --> IV ceftriaxone

Aplastic crisis --> transfusion

13

Beta Thalassemia major

surplus of alpha globin chains

Sx after 6 months

PE:
- facial deformities 2/2 expansion of marrow
- splenomegaly
- heart failure 2/2 high urine output
- gallstones

Labs
- hypochromic microcytic anemia
- hemosiderosis
- increased unconj bilirubin
- dx w/ Hb electrophoresis
- high levels of HbF

Tx
- transfusion therapy
- chelation
- deferoxamine for hemochromatosis

14

Diamond Blackfan sydnrome

Congenital pure red blood cell anemia

Pale infants in first few days
Anemia 2-6 mo old

Macrocytic anemia
- but no hypersegmented neutrophils

Bone marrow - reduced red cell precursors

Elevated EPO

PE:
- short stature
- webbed neck
- cleft lip
- shielded chest
- triphalangeal thumbs

Tx
- transfusions
- steroids

15

Acquired Aplastic Anemia

Dec in RBC, WBC, platelet

Causes
- ionizing radiation
- chloramphenicol, sulfas, anticonvulsants
- parvovirus, mono
- idiopathic

High mortality rate!
Death 2/2 hemorrhage or infection

16

Idiopathic Thrombocytopenic Purpura (ITP)
- etiology
- features
- dx
- tx
-

Immune mediated, can be preceded by viral infection

Signs:
- acute onset
- bruising and petechial rash
- joint bleeding rare
- NO splenomegaly

Dx
- bone marrow - normal or increased megakaryocytes; all other findings and cell lines normal
- varying degress of thrombocytopenia

Tx
- excellent even w/p Tx
- IVIG

17

Other causes of thrombocytopenia

Wiskott Aldrich (X linked)

Kasabach-Merritt

TAR syndrome

18

Kasabach Merritt

Rapidly enlarging cavernous hemangioma
+
Consumption coagulopathy -->
Thrombocytopenia

Usually cutaneous lesion
Low plt
Anemia

Tx:
- surgery to remove
- laser therapy
- high dose steroids
- interferon
- aminocaproic acid for coagulopahty

19

Thrombocytopenia + absent radius

TAR syndrome

20

Hemophilia A
- definition
- presentation
- PE
- dx
- tx

X linked recessive

Deficiency factor 8

Bleeding seen in neonatal period
Hemarthrosis can happen

Dx:
- family hx
- prolonged bleed after circumcision
- increased PTT
- decreased factor 8 activity, normal vWF
- plt normal
- PT normal

Tx
- tx bleeds w/ factor 8
- DDAVP to increase factor 8 levels in mild cases

21

Hemophilia B
- definition
- presentation
- PE
- dx
- tx

X linked recessive

Deficiency factor 9
Less common than A

Vit K dependent factor - not distinguishable clinically from A

Dx:
- low factor 9

Tx:
- replace factor 9

22

von Willebrand disease
- definition
- presentation
- PE
- dx
- tx

#1 inherited bleeding tendency

Autosomal dominant

p/w nosebleeds, gum bleeds; spontaneous hemarthrosis rare

Dx:
- increased bleeding time
- mildly increased PTT
- normal platelets, PT

Tx
- FFP
- Cryoprecipitate
- DDAVP

23

Function of vWF

Adhesion platelets

Platelet to platelet aggregation

Carrier factor 8

24

Acute lymphocytic leukemia
- definition
- risks
- presentation

Lots of lymphoblasts in bone marrow

Peak @ 3-4 yo

Increased risk with:
- downs
- ataxia telangiectasia
- von Recklinhausen
- sideroblastic anemia

Presentation
- anorexia
- pallor
- bleeding
- bruising
- LAD
- splenomegaly

25

ALL
- dx
- tx

Dx:
- Blasts on periph smeark
- abnormal CBC
- maybe mediastinal mass on CXR

Tx:
- vincristine + prednisone + L asparagine
- ppx CNX radiation or intrathecal MTX
- maintenance therapy for 2-3 years

Bone marrow is most common site of relapse

Poor prognosis if < 2 yo, boy, black, CNS mets

26

Tumor lysis sydnrome

Hyperuricemia 2/2 chemo

Tx
- hydration
- alkalization of urine
- allopurinol

Be weary of Hyper K

Hyper PO4 can cause decrease in Ca resulting in tetany

27

Hodgkin disease
- risk factors
- what is it?
- presentation

Older kids

Risk factors:
- EBV???
- immunodeficiency?

Pathology:
- Reed sternberg cell
- 4 major histo types:
- lymphocyte predominant
- nodular sclerosing
- mixed cellularity
- lymphocytic depleted (worst prognosis)

Presentation
- localized adenopathy (firm, nontender enlarged cervical or supraclavicular LN)
- mediastinal mass
- night sweats
- fever, wt loss, anorexia

28

When do you do bone marrow bx for pts with HOdgkins?

Stage 3 or 4 disease

Pts w/ B symptoms

29

What are B symptoms

How often do they happen?

30% kids

Temp > 100.4
Night sweats
Wt loss more than 10% in 6 months

30

Tx Hodgkin's disease

Determined by disease stage, age, presence or absence of B sx

Chemo:
- Mechlorethamine hydrochloride
- vincrisine sulfate
- procarbazine
- prednisone

OR

Doxyrubicin
Bleomycin
Vinblastine
Dacarbazine


Radiotherapy to LN

Prognosis good

31

Non-hodgkin lymphoma
- what is it
- risks

Neoplastic proliferation of immature lymphoid cells
vs ALL - accumulate outside of bone marrow

NHL kids younger than HL kids

Usually extranodal in presentation

Neoplasms of mature B cells
- Burkitts
- diffuse large B cell
- mantle cell
- follicular lymphoma

Neoplasms of mature T cells
- adult T cell
- mycosis fungoides/sezary syndrome

32

Burkitt's lymphoma - genetics

t (8,14)

33

Mantle cell lymphoma - genetics

t (11,14)

translocation of cyclin D1 (11) and heavy chain Ig (14)

34

Follicular lymphoma - genetics

t(14,18)

translocation of heavy chain Ig (14) and bcl-2 (18)

Indolent course! difficult to cure. bcl2 ---| apoptosis

35

What is Adult T cell lymphoma usually caused by?

HTLV-1

36

Tx nonhodgkins lymphoma

Surgical debulking

CHOP
- cyclophosphamide
- vincristine
- MTX
- prednisone

37

Brain tumors in kids

#1 solid tumors in childhood

2/3 infratentorial

38

Cerebellar astrocytoma

2 histo types of astrocytoma:
1) pilocytic (most common, benign)
2) diffuse or fibrillary

#1 tumor of kids and best prognosis

Kids 5-10 yo

MRI to see

Tx:
- resection
- chemo depending on type, age, and if tumor is recurrent

5 yr survival = 90%

39

Medulloblastoma

Primitive neuroectodermal tumor

#2 most common in kids

Sometimes originate from roof of 4th ventricle

Aggressive, can mets extracranially

< 7 yo usually
Boys > girls

Usually in midline of cerebellum
Can cause hydrocephalus

Tx:
- surgical excision
- radiation
- chemo

Poor prognosis if < 4 yo

40

Brain stem fliomas

#3 common posterior fossa tumor in kids

2 types:
1) anaplastic (poor prognosis)
2) low grade focal

Tx:
- limited radiotherapy
- chemo for palliative
- surgery

Poor prognosis in general

41

Ependymoma

Can be infra or supratentorial

4th ventricle is #1 site

Usually present as obstructive hydrocephalus

Tx:
- surgery usually doesn't get it all
- radiotherapy
- cyclic chemo

Prognosis for 5 yr
- low grade (70%)
- high grade (20%)

42

Infratentorial tumors

Cerebellar astrocytoma
Medulloblastoma
Brainstem glioma
Ependymoma

43

Supratentorial tumors

Craniopharyngioma
Optic gliomas

44

Craniopharyngioma

Supratentorial

Cystic + solid areas that tend to calcify

Can present w/
- short stature
- periph vision loss
- hydrocephalus

Can see calcifications on Xray or CT

Tx:
- resect
- radiation maybe

Need to f/u closely b/c can get hypothyroidism, DI, adrenal insufficiency

45

Optic gliomas

Low grade astrocytomas

Cause decreased VA and pallor of the dics

More common in pts with:
- neurofibromatosis
- chiasmal tumors

Can present with asymmetric nystagmus if has chiasmatic tumor

Tx
- delayed until tumor progresses
- no tx if optic N tumor but normal vision - reeval q6 mo w/ CT
- chemo for pts w/ visual changes
- carboplatin + vincristine

46

Wilms Tumor
- what is it
- risk
- presentation
- ddx

Tumor of neoplastic embryonal renal cells of the metanephros
- blastema + epithelium + stroma

Histo
- spindle shaped cells
- anaplasia
- fibrillar inclusions
- w/ presence of striated muscle

Most renal tumors = Wilms tumors

Associations:
- WAGR (Wilms tumor, ANiridia, GU anomalies, MR)
- Beckwith-Wiedemann
- Denys Drash syndrome

Usually start ~3 yo

HTN in many presentations

Usually asymptomatic ab mass
- DOES NOT cross midline

Ddx - Neuroblastoma which is tumor of renal Origin

47

Wilms tumor
- dx
- tx
- prognosis

Dx
- UA = microscopic or gross hematuria
- US = see if intrarenal
- CT to see how much the tumor covers
- bx to stage

Tx
- surgical resection
- radiotherapy
- actinomycin D + vincristine

Prognosis - most are good

48

Neuroblastoma
- what is it
- risks
- presentation

Malignancy of neural crest cells - usually give rise to chromaffin and adrenal medulla

#1 solid malignancy in kids outside of CNS

Usually in preschool kids, mostly < 5 yo
Boys > girls

Assoc w/ Beckwith Wiedemann syndrome

Presentation:
- ab mass
- HTN
- resp distress if in thoracic tumor
- horner syndrome
- opsoclonus myoclonus causing "dancing eyes and feet syndrome"

Mets common to bone, liver, skin

CROSSES the midline

49

Neuroblastoma
- dx
- tx
- complications
- prognosis

Dx
- CT scan
- VMA and HMA levels for dx and response to therapy
- bx
- should do bone marrow bx and bone scan for mets
- other markers: enolase, ferritin, LDH

Tx
- Stage I + II = surgery
- stage III + IV = chemo
--vincristine + cyclophosphamide + doxorubicin + cis-platinum + etoposide + danorubicin
- high rate of spontaneous regression w/o therapy in stage IV-S (small tumors < 1 yo w/ mets but none to cortical bone)

Complications
- < 1 yo best prognosis
- > 2 yo worst prognosis
- N-myc amplification or 1p deletion poorer prognosis

50

Rhabdomyosarcoma
- what is it
- presentation

Striated muscle tumor
#1 sarcoma in kids

Presentation
- #1 = mass (nasopharynx, face, trunk, GU, etc)
- vaginal rhabdo --> vaginal grapelike mass (sarcoma botryoides)
- tumors can mets to lung or bone

51

Rhabdomyosarcoma
- dx
- tx
- complications

Dx
- CT or US
- bone marrow, bone scan, CXR, and chest CT before surgery

Tx
- dependent on primary tumor location
- rarely is it complete resectable
- will need combo of surgery or radiation or chemo

Primary site, extent of dz, and tx used determines best prognosis

52

Anemia of prematurity tx

with iron supp, hg checks, blood transfusion if needed

Iron is given not because iron deficiency but because it will be stored and reutilized during active phase if eruthropoiesis

53

Burr cells

- spiculated RBCs seen in uremia or as artifact of prep

54

Lab findings of sickle cell

Dec:
- hematocrit

Increased:
- retic
- serum LDL
- unconj bilirubin

Peripheral smear:
- sickled cells
- howell jolly bodies

55

Main dose limiting side effect of hydroxyurea

Myelosuppression

56

Wilms tumor vs neuroblastoma

Wilms tumor more common than neuroblastoma

WIlms does not cross midline

Neuroblastoma crosses midline

57

How do you dx paroxysmal noctunral hemoglobinuria?

sugar water test

58

The presence of Howell-Jolly bodies means...

splenectomy

59

#1 cancer in kids

Acute lymphoblastic leukemia

Ages 2-5 yo

60

Iron deficiency in kids

Fe store usually run out by 6 mo so need to supplement then

DO NOT use cows milk --> will cause iron deficiency anemia

+ iron (oral) therapy in those with deficiency
- recheck Hg in 4 weeks
- con't oral therapy until Hg normalizes

61

#1 complication in sickle cell TRAIT is

painless hematuria

2/2 sickling in renal medulla

62

Kasabach Merritt phenomenon

Seen with large vascular anomalies

Platelet and RBC sequestration within vascular tumor causes peripheral thrombocytopenia, coagulopathy, and microangiopathic hemolytic anemia

Tx:
- steroids
- a-interferon
- vincristine

63

DIC lab values

Consumption of
- fibrinogen
- 2, 5, 8

Prolongation of:
- PT
- PTT
- TT

Decrease in
- factor 8
- platelet

Increase in:
- fibrin split production