t(18;21)(p11;q11)
2017-06-01 Adriana Zamecnikova Affiliation1.Kuwait Cancer Control Center, Department of Hematology, Laboratory of Cancer Genetics, Kuwait; [email protected]
Abstract
Chromosome translocation between the short arm of chromosome 18 and the long arm of chromosome 21 including the t(18;21)(p11;q11) is a rare event, reported only in sporadic cases.
Clinics and Pathology
Disease
Acute erythroleukemia (FAB type M6), acute lymphoblastic leukemia (ALL) and follicular lymphoma
Epidemiology
Only 3 cases to date: a 71-years old male diagnosed with acute erythroleukemia (Cigudosa et al., 2003), a female patient with follicular lymphoma (Lestou et al., 2003) and a 27-years old male with B-cell ALL (present case, personal observation).
Prognosis
Unknown (sporadic cases described). The ALL patient relapsed after 7 months of therapy and was alive in the last follow-up 2 years from the diagnosis.
Cytogenetics
Note
Breakpoints on 18p and 21q are difficult to ascertain in suboptimal preparations.
Additional anomalies
Associated with del(5)(q13q31) del(5)(q13q31), monosomy 7, hsr and complex karyotype in the AML case (Cigadusa et al., 2003), del(5)(q15q31), +7, t(14;18)(q32;q21) in the lymphoma case (Lestou et al., 2003) and with homozygous 9p deletion (70% of cells), detected by fluorescence in situ hybridization in the present case.
Variants
Genes involved are unknown.
Genes Involved and Proteins
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 12619165 | 2003 | De novo erythroleukemia chromosome features include multiple rearrangements, with special involvement of chromosomes 11 and 19. | Cigudosa JC et al |
| 12930384 | 2003 | Multicolour fluorescence in situ hybridization analysis of t(14;18)-positive follicular lymphoma and correlation with gene expression data and clinical outcome. | Lestou VS et al |
Summary
Partial karyotypes with t(18;21)(p11;q11) (A). Fluorescence in situ hybridization with LSI TEL-AML1 probe (Vysis/Abott Molecular, US) probe showing relocation of AML1 (RUNX1) sequences from 21q22 to the short arm of chromosome 18 (B).
Citation
Adriana Zamecnikova
t(18;21)(p11;q11)
Atlas Genet Cytogenet Oncol Haematol. 2017-06-01
Online version: http://atlasgeneticsoncology.org/haematological/1791/t(18
