ALL Flashcards
Name the syndrome associated with Hypodiploid ALL
Li Fraumeni syndrome
50% germline mutation
Leukemia subtype proportions according to age
0-5 years: ALL:81% AML 14% CML 2% JMLL 3%
15-19 years: ALL:51%, AML:36%, CML:9%, JMLL:4%
Concordance rates in identical twins
100% if less 12 months
10-15% if more than 12 month
Name 5 syndromes associated with ALL
- Li Fraumeni syndrome
- Ataxia telangiectasia (T-ALL, NHL)
- NF1
- Bloom syndrome
- Down syndrome
- Kleinfelters
What is the most common cytogenetic abnormality in DS-ALL
CRLF2-R; P2RY8-CRLF2
Immunophenotype of Pre-B ALL
TdT+, CD10+, CD19+, CD22+, CD79a+
Immunophenotype of T-ALL
cCD3+, s CD3+, CD7+, CD2+, CD4+, CD8+
preB-ALL expresses CD13+, CD33+ molecular rearrangement is associated with?
- ETV6-RUNX1
- Ph+
- MLL ( less common)
Typical immunophenotype of Infant ALL
-CD10-
Burkitt’s Leukemia Immunophenotype
Surface Ig
What is the characteristic translocation of Burkitt’s Leukemia?
- t(2;8), t(8;14), t(8:22)
- c-Myc to heavy/light chain locus
Black, old teenager boy
T-cell ALL
Hypereosinophilia at diagnosis of ALL
t(5;14)(q31;q32) IL-3 gene under control of IgH promoter.
Can be a rare presentation of ALL
Name 8 x-rays findings associated with ALL
- Osteolysis
- Methaphyseal bands
- Osteopenia
- Osteosclerosis
- Permeative pattern
- Pathological fracture
- Periostial reaction
- Mixed lysis-sclerosis lesions
40% of children with ALL will complain of this symptom
Bone pain
ALL- Definition of CNS involvement
CNS1: NO blast in cytospin, regardless of the number of WBC.
CNS2:Presence of <5/uL WBC and cytospin positive for blast OR >=WBC but negative for Steinherts/Bleyer algorithm
CNS3: >+ 5/uL WBC and cytospin positive for blasts and/or clinical signs of CNS involvement.
Name 5 signs/symptoms of CNS involvement
- Cranial nerve palsies
- Headache
- Lethargy
- Seizures
- Papilledema
Name 3 subtypes of ALL with high incidence of CNS involvement
- Infant ALL (15-25%)
- Burkitt’s Leukemia (15-25%)
- T- ALL (15%)
Name 5 negative prognostic factors at the time of relapse
- Short time to relapse <18 months from diagnosis
- Isolated bone marrow relapse
- Age at initial diagnosis (worse for teenagers that relapse)
- ## T-ALL relapse
Immunophenotype of Pro-B ALL
CD19+, CD10-, cIG-, sIg-
Re-arrangement associated to CD10 Negative leukemia
t(4;11)
Cytogenetic abnormalities in ALL
- ETV6-RUNX1 aka TEL-AML1 25% ( Most common)- Good outcome- t(12;21)
- TCF3-PBX1 aka E2A-PBX1 5% t(1;19) - neutral outcome
- MLL-rearranged 3% t(?;11) or t(11;?)- Poor outcomes
- BCR-ABL1 t(9;22) Poor outcome add TKI
- MYC- IgH, Igl, Igk t(8;14), t(2;8), t(8;22) Burkitt’s
Define NCI risk groups:
- SR- Age: 1-9.99 WBC <50
- HR: Age <1>10 WBC >50
Prognostic factors:
- Age
- WBC
- Genotype
- Treatment response- Strongest prognostic factor
