i(5)(p10) in acute myeloid leukemia
2010-12-01 Nathalie Douet-Guilbert , Nathalie Douet-Guilbert , Nathalie Douet-Guilbert , Nathalie Douet-Guilbert , Nathalie Douet-Guilbert , Nathalie Douet-Guilbert , Nathalie Douet-Guilbert , Nathalie Douet-Guilbert Affiliation1.Laboratory of Histology, Embryology,, Cytogenetics, Faculty of Medicine, Health Sciences, Université de Bretagne Occidentale, 22, avenue Camille Desmoulins, CS 93837, F-29238 Brest cedex 3, France
2.MLL Münchner Leukümielabor GmbH, Max-Lebsche-Platz 31, 81377 München, Germany
Clinics and Pathology
Phenotype stem cell origin
Type 1: classified as myelodysplastic syndrome (4 cases), acute myeloid leukemia (4 cases) predominantly AML M2;
Type 2: classified as acute myeloid leukemia (5 cases), predominantly AML M5a.
Type 2: classified as acute myeloid leukemia (5 cases), predominantly AML M5a.
Etiology
Unclear
Epidemiology
Type 1: it is found in young adults in MDS (average age: 35 years; range: 19-67) and in older patients in AML (average age: 66 years; range: 50-85).
Type 2: the +i(5)(p10) is found in patients with an average age of 48.5 years (range : 24-78).
Type 2: the +i(5)(p10) is found in patients with an average age of 48.5 years (range : 24-78).
Prognosis
Prognosis of patients with i(5)(p10) seems to be poor compared to patients with del(5q), but it is unclear due to the very small number of cases and the usually associated complex chromosomal abnormalities.
Cytogenetics
A - FISH with partial chromosome painting 5p (pcp 5p) (Green signal) and 5q (pcp 5q) (Red signal).
B - FISH with LSI 5p15.2 (Green signal) / 5q31 (Red signal). Nathalie Douet-Guilbert.
Cytogenetics morphological
The formation of i(5p) results from the loss of the long arm of chromosome 5 and duplication of its short arm inducing trisomy 5p and monosomy 5q in type 1 and tetrasomy 5p in type 2.
A metacentric del(5q) could be an isochromosome of the short arm of chromosome 5. FISH technique with specific probes of chromosome 5p/5q used as a complement of conventional karyotype is necessary to identify i(5)(p10). The i(5p) is a variant of del(5q). The i(5p) is monocentric or dicentric.
A metacentric del(5q) could be an isochromosome of the short arm of chromosome 5. FISH technique with specific probes of chromosome 5p/5q used as a complement of conventional karyotype is necessary to identify i(5)(p10). The i(5p) is a variant of del(5q). The i(5p) is monocentric or dicentric.
Additional anomalies
In one case, i(5)(p10) was the sole anomaly but rapidly evolved into a complex karyotype. Complex karyotypes were present in the other cases: -12/del12p (3 cases), -17/del17p (2 cases), del9q (2 cases).
Supernumerary +i(5)(p10) was accompanied by several additional anomalies, especially trisomy 8
Supernumerary +i(5)(p10) was accompanied by several additional anomalies, especially trisomy 8
Genes Involved and Proteins
Note
Type 1: to explain the specific phenotype of i(5)(p10), loss of tumor suppressor genes in the deleted region (5q) associated with gene dosage effect of genes located on 5p is suggested.
Type 2: gene dosage effect of genes located on the short arm of chromosome 5.
Type 2: gene dosage effect of genes located on the short arm of chromosome 5.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 14615911 | 2004 | Myelodysplastic syndrome (RARS) with +i(12p) abnormality in a patient 10 months after diagnosis and successful treatment of a mediastinal germ cell tumor (MGCT). | Christodoulou J et al |
| 9204975 | 1997 | Chromosomal breakpoints and changes in DNA copy number in refractory acute myeloid leukemia. | El-Rifai W et al |
| 20620596 | 2010 | Isochromosome 5p and related anomalies: a novel recurrent chromosome abnormality in myeloid disorders. | Herry A et al |
| 10865986 | 2000 | Lack of BCR/ABL reciprocal fusion in variant Philadelphia chromosome translocations: a use of double fusion signal FISH and spectral karyotyping. | Markovic VD et al |
| 16724670 | 2006 | Gain of an isochromosome 5p: a rare recurrent abnormality in acute myeloid leukemia. | Panani AD et al |
| 15085163 | 2004 | RT-PCR and FISH analysis of acute myeloid leukemia with t(8;16)(p11;p13) and chimeric MOZ and CBP transcripts: breakpoint cluster region and clinical implications. | Schmidt HH et al |
| 11408074 | 2001 | Gain of an isochromosome 5p: a new recurrent chromosome abnormality in acute monoblastic leukemia. | Schoch C et al |
| 9592183 | 1998 | Cytogenetic analysis of de novo acute myeloid leukemia with trilineage myelodysplasia in comparison with myelodysplastic syndrome evolving to acute myeloid leukemia. | Tamura S et al |
Summary
Note
In literature, two types of i(5)(p10) are observed:
Type 1: i(5)(p10) inducing a loss of the long arm of chromosome 5 (5q) and a trisomy of the short arm of the chromosome 5 (5p);
Type 2: +i(5)(p10) (or supernumerary i(5)(p10) or gain of i(5)(p10)) inducing a tetrasomy of the short arm of chromosome 5 (5p). The i(5)(p10) occurred in addition to two normal chromosomes 5.
The isochromosome of the short arm of chromosome 5 - i(5)(p10) - has only been described in a few cases of myeloid leukemia.
Type 1: i(5)(p10) inducing a loss of the long arm of chromosome 5 (5q) and a trisomy of the short arm of the chromosome 5 (5p);
Type 2: +i(5)(p10) (or supernumerary i(5)(p10) or gain of i(5)(p10)) inducing a tetrasomy of the short arm of chromosome 5 (5p). The i(5)(p10) occurred in addition to two normal chromosomes 5.
The isochromosome of the short arm of chromosome 5 - i(5)(p10) - has only been described in a few cases of myeloid leukemia.
i(5)(p10) G-banding - Claudia Schoch (left), and R-banding - Nathalie Douet-Guilbert (right).
Citation
Nathalie Douet-Guilbert ; Nathalie Douet-Guilbert ; Nathalie Douet-Guilbert ; Nathalie Douet-Guilbert ; Nathalie Douet-Guilbert ; Nathalie Douet-Guilbert ; Nathalie Douet-Guilbert ; Nathalie Douet-Guilbert
i(5)(p10) in acute myeloid leukemia
Atlas Genet Cytogenet Oncol Haematol. 2010-12-01
Online version: http://atlasgeneticsoncology.org/haematological/1376/i(5)(p10)-in-acute-myeloid-leukemia
Historical Card
2005-02-01 i(5)(p10) in acute myeloid leukemia by Claudia Schoch Affiliation
MLL Münchner Leukümielabor GmbH, Max-Lebsche-Platz 31, 81377 München, Germany
