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i(5)(p10) in acute myeloid leukemia

Written2005-02Claudia Schoch
MLL Münchner Leukümielabor GmbH, Max-Lebsche-Platz 31, 81377 München, Germany
Updated2010-12Nathalie Douet-Guilbert, Angçle Herry, Audrey Basinko, Marie-Josée Le Bris, Nadia Guéganic, Clément Bovo, Frédéric Morel, Marc De Braekeleer
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

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Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1376
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.
 
  i(5)(p10) G-banding - Claudia Schoch (left), and R-banding - Nathalie Douet-Guilbert (right).

Clinics and Pathology

Phenotype / cell stem 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.
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).
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

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 - 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.
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

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.

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

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, Schoch C, Schnittger S, Haferlach T.
Ann Hematol. 2004 Jun;83(6):386-9. Epub 2003 Nov 13.
PMID 14615911
 
Chromosomal breakpoints and changes in DNA copy number in refractory acute myeloid leukemia.
El-Rifai W, Elonen E, Larramendy M, Ruutu T, Knuutila S.
Leukemia. 1997 Jul;11(7):958-63.
PMID 9204975
 
Isochromosome 5p and related anomalies: a novel recurrent chromosome abnormality in myeloid disorders.
Herry A, Douet-Guilbert N, Morel F, Le Bris MJ, Gueganic N, Berthou C, De Braekeleer M.
Cancer Genet Cytogenet. 2010 Jul 15;200(2):134-9.
PMID 20620596
 
Lack of BCR/ABL reciprocal fusion in variant Philadelphia chromosome translocations: a use of double fusion signal FISH and spectral karyotyping.
Markovic VD, Bouman D, Bayani J, Al-Maghrabi J, Kamel-Reid S, Squire JA.
Leukemia. 2000 Jun;14(6):1157-60.
PMID 10865986
 
Gain of an isochromosome 5p: a rare recurrent abnormality in acute myeloid leukemia.
Panani AD.
In Vivo. 2006 May-Jun;20(3):359-60.
PMID 16724670
 
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, Strehl S, Thaler D, Strunk D, Sill H, Linkesch W, Jager U, Sperr W, Greinix HT, Konig M, Emberger W, Haas OA.
Leukemia. 2004 Jun;18(6):1115-21.
PMID 15085163
 
Gain of an isochromosome 5p: a new recurrent chromosome abnormality in acute monoblastic leukemia.
Schoch C, Bursch S, Kern W, Schnittger S, Hiddemann W, Haferlach T.
Cancer Genet Cytogenet. 2001 May;127(1):85-8.
PMID 11408074
 
Cytogenetic analysis of de novo acute myeloid leukemia with trilineage myelodysplasia in comparison with myelodysplastic syndrome evolving to acute myeloid leukemia.
Tamura S, Takemoto Y, Hashimoto-Tamaoki T, Mimura K, Sugahara Y, Senoh J, Furuyama JI, Kakishita E.
Int J Oncol. 1998 Jun;12(6):1259-62.
PMID 9592183
 

Citation

This paper should be referenced as such :
Douet-Guilbert, N ; Herry, A ; Basinko, A ; Le Bris, MJ ; Guéganic, N ; Bovo, C ; Morel, F ; De, Braekeleer M
i(5)(p10) in acute myeloid leukemia
Atlas Genet Cytogenet Oncol Haematol. 2011;15(8):695-696.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/i5pID1376.html
History of this paper:
Schoch, C. i(5)(p10) in acute myeloid leukemia. Atlas Genet Cytogenet Oncol Haematol. 2005;9(2):147-147.
http://documents.irevues.inist.fr/bitstream/handle/2042/38189/02-2005-i5pID1376.pdf


Translocations implicated (Data extracted from papers in the Atlas)

 i(5)(p10) in acute myeloid leukemia

External links

Mitelman databasei(5)(p10) [Case List]    i(5)(p10) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databasei(5)(p10) in acute myeloid leukemia
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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