del(7q)
del(7)(q31)
Monosomy 7 (-7) and deletion del(7q) are common anomalies of blood malignancies.
non-Hodgkin lymphomas (NHL)
- splenic lymphoma with villous lymphocytes
- marginal zone B-cell lymphoma
- splenic marginal zone lymphoma
myelodysplastic syndromes (MDS)
- 30% of RAEB/RAEB-T
- 20% of CMML
- 5% of RA with an abnormal karyotype
acute non lymphocytic leukemia (ANLL) (17%)
Predisposition
de novo occurence
secondary occurence (alkylating agents)
predisposing leukemia syndromes
- Fanconi anemia
- Kostmann syndrome
- Shwachman-Diamond syndrome
- Neurofibromatosis type I
- trisomy 21 (Down syndrome)
- familial monosomy 7
Target genes
CDK6
ASNS (asparagine synthetase gene) at 7q21.3-q22.1;
ACHE (acetyl cholinesterase)
EPO (erythropoietin)
PLANH1 (plasminogen activator inhibitor 1) at 7q22
MET at 7q31.2-31.3
Critical regions
- del(7)(q31)
7q22q32
- del(7)(q22q32)
