t(18;21)(p11;q11)

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.

Keywords

Chromosome 18; Chromosome 21; Acute erythroleukemia; AML-M6; Acute lymphoblastic leukemia; Follicular lymphoma.

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Identity

ICD-Topo	C420,C421,C424
ICD-Morpho	9840/3 Acute erythroid leukaemia
ICD-Morpho	9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho	9690/3 Follicular lymphoma; Paediatric follicular lymphoma
Atlas_Id	1791
	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).

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.

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section.

Bibliography

De novo erythroleukemia chromosome features include multiple rearrangements, with special involvement of chromosomes 11 and 19.

Cigudosa JC, Odero MD, Calasanz MJ, Solé F, Salido M, Arranz E, Martènez-Ramirez A, Urioste M, Alvarez S, Cervera JV, MacGrogan D, Sanz MA, Nimer SD, Benitez J.

Genes Chromosomes Cancer 2003 Apr;36(4):406-12.

PMID 12619165

Multicolour fluorescence in situ hybridization analysis of t(14;18)-positive follicular lymphoma and correlation with gene expression data and clinical outcome.

Lestou VS, Gascoyne RD, Sehn L, Ludkovski O, Chhanabhai M, Klasa RJ, Husson H, Freedman AS, Connors JM, Horsman DE.

Br J Haematol 2003 Sep;122(5):745-59.

PMID 12930384

Citation

This paper should be referenced as such :

Zamecnikova A

t(18;21)(p11;q11);

Atlas Genet Cytogenet Oncol Haematol. in press

On line version : http://AtlasGeneticsOncology.org/Anomalies/t1821p11q11ID1791.html

Translocations implicated (Data extracted from papers in the Atlas)

	t(18;21)(p11;q11)

External links

Mitelman database	t(18;21)(p11;q11) [Case List]    t(18;21)(p11;q11) [Association List] Mitelman database (CGAP - NCBI)
arrayMap	Morph ( 9840/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap	Morph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap	Morph ( 9690/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
Disease database	t(18;21)(p11;q11)

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indexed on : Fri Jun 30 11:23:57 CEST 2017

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