Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

i(5)(p10) in hematological malignancies

Written2018-06Adriana Zamecnikova
Kuwait Cancer Control Center, Kuwait

Abstract Isochromosome of the short arm of chromosome 5 is an infrequent chromosome anomaly that has been reported in myeloid, and less frequently in in lymphoid malignancies, including leukemia and lymphomas.

Keywords AML, acute monoblastic leukemia, isochromosome 5p, clonal evolution.

(Note : for Links provided by Atlas : click)


ICD-Topo C420,C421,C424
ICD-Morpho 9875/3
ICD-Morpho 9873/3 AML without maturation
ICD-Morpho 9874/3 AML with maturation
ICD-Morpho 9866/3 Acute promyelocytic leukaemia with t(15;17)(q22;q12); PML-RARA
ICD-Morpho 9867/3 Acute myelomonocytic leukaemia
ICD-Morpho 9891/3 Acute monoblastic and monocytic leukaemia
ICD-Morpho 9840/3 Acute erythroid leukaemia
ICD-Morpho 9805/3
ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
ICD-Morpho 9732/3 Plasma cell myeloma / Multiple myeloma
ICD-Morpho 9823/3 Chronic lymphocytic leukaemia /small lymphocytic lymphoma
Atlas_Id 1825
  Partial karyotypes with i(5)(p10) (A). Fluorescence in situ hybridization with LSI CSF1R/D5S23, D5S721 probe hybridizing to 5p15.2 and 5q33-34 sequences (Abbott Molecular/Vysis, US) showing combination of chromosome 5 abnormalities: deletion of the long arm of chromosome 5, duplication of 5q33-34 sequences and isochromosome i(5)(p10) (B).

Clinics and Pathology

Disease Chronic or acute myeloid malignancies and lymphoid neoplasms.
Note See also i(5)(p10) in acute myeloid leukemia
Etiology 38 patients (20 M/18 F aged 8 to 86 years; median 69 years). Myeloid malignancies mainly (26 patients): 18 AML, 7 MDS and 1 CML. In 10 of the 18 AML patients the cells were of monoblastic (8 patients)/monocytic (2 patients) lineage. Among them, 4 had therapy-related MDS, 1 had therapy-related AML (t-MDS/t-AML), and one patient had chronic myelogenous leukemia in myeloid blast phase. The primary diagnoses for patients with t-MDS/t-AML were mediastinal germ cell tumor (Christodoulou et al., 2004), carcinoma of the ovary (Lessard et al., 2007), breast carcinoma (Gervais et al., 2008) and multiple myeloma (Jimenez-Sousa et al., 2010; Reddi et al., 2012). The occurrence of i(5)(p10 was not restricted to myeloid malignancies as it was also detected in 8 patients with B-cell and in 3 with T-cell lymphoid malignancies.
Epidemiology Chronic myeloproliferative disorders (MPD) in 8 (4M/4F aged 19 to 81 years; median 66 years): 1 chronic myeloid leukemia (Markovic et al., 2000) and 7 MDS (Christodoulou et al., 2004; Lessard et al., 2007; Herry et al., 2010; Jimenez-Sousa et al., 2010; Douet-Guilbert et al., 2011; Reddi et al., 2012; Giudici et al., 2013).
Acute myeloid leukemia (AML) in 18 (9M/9F aged 8 to 86 years, median 64 years): 2 AML (Flach et al., 2011; Hartmann et al.,2014), 2 acute myeloblastic leukemia without maturation (M1) (Calabrese et al., 2000; Choi et al., 2007), 2 acute myeloblastic leukemia with maturation (M2) (Tamura et al., 1998; Herry et al., 2007), 1 acute promyelocytic leukemia (M3) (Goldschmidt et al., 2010), 2 acute myelomonocytic leukemia (M4) (El-Rifai et al., 1997; Panani 2006), 8 acute monoblastic leukemia (M5) (Yunis 1984; Slovak et al., 1991; Schoch et al 2001; Schmidt et al., 2004; Gervais et al., 2008; Paar et al., 2013) and 1 acute erythroleukemia (M6) (Herry et al., 2010) patient.
Multiple myeloma was diagnosed in a single male (Sawyer et al., 2014).
Lymphoid malignancies in 12 patients. B-cell lymphomas in 7 (3M/4F aged 55, 71, 78 and 86 years, 3 unknown) (Hashimoto et al., 1995; Dierlamm et al., 1997; Wlodarska et al., 1999; Hernandez et al., 2001; Bastard et al., 1992; Cook et al., 2004; Johnson et al., 2008), and there was a 54-years old male with chronic lymphocytic leukemia (Jarosova et al., 2010). 3 patients were diagnosed with T-cell lymphoid malignancies (2M/1F aged 38 and 69 years, 1 unknown) (Heinonen et al., 1994; Lepretre et al., 2000; Nelson et al., 2008) and an 11- years old male with bilineage or biphenotypic leukemia (La Starza et al., 1993).
Prognosis i(5)(p10 is frequently part of complex karyotypes representing clonal evolution that may reflect genomic instability. Most of these patients showed a more aggressive course of the disease and poor response to chemotherapy (Paar et al., 2013).


The formation of i(5)(p10) may be observed in two patterns: (1) i(5)(p10) replacing a normal chromosome 5 leading to the loss of the long arm of chromosome 5 and duplication of its short arm. (2) It occurs as a supernumerary +i(5)(p10) chromosome, with two normal copies of chromosome 5, resulting in 5p tetrasomy, that has been reported in AML and B-cell lymphoid malignancies, but not in MDS.


Note Because of their similar cytogenetic appearance, the incidence of i(5)(p10) may be underestimated as it might have been misinterpreted as 5q deletion, a known chromosome abnormality in myeloid malignancies. Therefore, to discriminate between 5q deletion and i(5)(p10), fluorescence in situ hybridization using locus specific probes for 5p/5q sequences is recommended.
Cytogenetics Morphological Presents as i(5)(p10) resulting in 5q deletion in 7 MPD, 6 AML, 1 CLL, 1 mature B-cell neoplasm and 3 T-cell lymphoid malignancies. Among them, sole anomaly in 1 MDS (Douet-Guilbert et al., 2011), sole additional anomaly to +8 in 1 MDS (Jimenez-Sousa et al., 2010), to -Y in 1 MDS (Reddi et al., 2012) and found as +8 and complex karyotypes in 2 AML (El-Rifai et al., 1997; Herry et al., 2007). In 1 MDS patient, 2 copies of isochromosome 5p and a single normal chromosome 5 have been detected (Giudici et al., 2013). Presents as a supernumerary +i(5)(p10) in 11 out of 17 AML, in the bilineage or biphenotypic leukemia, in 1 MM an in 6 out of 7 B-cell lymphomas. Among them, +8 was found in 8 AML patients (Panani 2006; Yunis 1984; Schoch et al 2001; Slovak et al., 1991; Calabrese et al., 2000; Flach et al., 2011) while it was a sole additional anomaly to +8 in 3 patients (Schoch et al 2001; Panani 2006). Found with 14q32 rearrangement and complex karyotypes in 3 out of 6 B-cell lymphomas and as part of complex karyotypes in the remaining patients.

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis Isochromosome of the short arm of chromosome 5 represents a rare but recurrent chromosome anomaly in hematological malignancies. Its occurrence has been mainly associated with myeloid malignancies, especially AML with monocytic lineage, but it has also been reported in lymphoid disorders, including leukemia and lymphomas. When present in a single copy, i(5)(p10) results in 5p trisomy and 5q monosomy, that might be similar to a 5q- syndrome. Therefore, loss of material from chromosome 5q arm and gain of 5p material may play a key pathogenic role in these patients. In contrast, when presents as a supernumerary +i(5)(p10) chromosome, the formation of isochromosome leads to 5q disomy and 5p tetrasomy, thus duplication of its short arm leading to copy gain imbalances could contribute to proliferative advantage of the cells. i(5)(p10) is mainly observed as an additional chromosomal abnormality to known anomalies such as trisomy 8 in myeloid malignancies or is part of a complex karyotypes, likely representing a secondary cytogenetic event in the majority of patients.


Maximizing mailed questionnaire responses
Baker CM
Image J Nurs Sch 1985 Fall;17(4):118-21
PMID 3852770
Karyotype refinement in five patients with acute myeloid leukemia using spectral karyotyping
Calabrese G, Fantasia D, Spadano A, Morizio E, Di Bartolomeo P, Palka G
Haematologica 2000 Nov;85(11):1219-21
PMID 11064476
C/EBPbeta suppression by interruption of CUGBP1 resulting from a complex rearrangement of MLL
Choi WT, Folsom MR, Azim MF, Meyer C, Kowarz E, Marschalek R, Timchenko NA, Naeem RC, Lee DA
Cancer Genet Cytogenet 2007 Sep;177(2):108-14
PMID 17854664
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
PMID 14615911
Isolated 5p isochromosome in myelodysplastic syndrome: report of the first case
Douet-Guilbert N, Basinko A, De Braekeleer E, Guéganic N, Bovo C, Le Bris MJ, Morel F, Eveillard JR, Berthou C, Herry A, De Braekeleer M
Leuk Res 2011 Nov;35(11):e193-7
PMID 21803421
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
An accumulation of cytogenetic and molecular genetic events characterizes the progression from MDS to secondary AML: an analysis of 38 paired samples analyzed by cytogenetics, molecular mutation analysis and SNP microarray profiling
Flach J, Dicker F, Schnittger S, Schindela S, Kohlmann A, Haferlach T, Kern W, Haferlach C
Leukemia 2011 Apr;25(4):713-8
PMID 21233836
Interstitial insertion of RARα gene into PML gene in a patient with acute promyelocytic leukemia (APL) lacking the classic t(15;17)
Goldschmidt N, Yehuda-Gafni O, Abeliovich D, Slyusarevsky E, Rund D
Hematology 2010 Oct;15(5):332-7
PMID 20863428
Isochromosome 5p and related anomalies: a novel recurrent chromosome abnormality in myeloid disorders
Herry A, Douet-Guilbert N, Morel F, Le Bris MJ, Guéganic N, Berthou C, De Braekeleer M
Cancer Genet Cytogenet 2010 Jul 15;200(2):134-9
PMID 20620596
Quit wasting time with "nursing rituals"
Huttmann B
Nursing 1985 Oct;15(10):34-9
PMID 3850404
Myelodysplastic syndrome with isochromosome 5p and trisomy 8 after treatment of a multiple myeloma
Jimenez-Sousa MA, Ferro MT, Talavera M, Villalon C, Cabello P, Laraña J, Herrera P, Garcia Sagredo JM
Cancer Genet Cytogenet 2010 Dec;203(2):345-7
PMID 21156257
Fluorescence in situ hybridization analysis of 110 hematopoietic disorders with chromosome 5 abnormalities: do de novo and therapy-related myelodysplastic syndrome-acute myeloid leukemia actually differ? Cancer Genet Cytogenet
Lessard M, Hélias C, Struski S, Perrusson N, Uettwiller F, Mozziconacci MJ, Lafage-Pochitaloff M, Dastugue N, Terré C, Brizard F, Cornillet-Lefebvre P, Mugneret F, Barin C, Herry A, Luquet I, Desangles F, Michaux L, Verellen-Dumoulin C, Perrot C, Van den Akker J, Lespinasse J, Eclache V, Berger R; Groupe Francophone de Cytogénétique Hématologique
2007 Jul 1;176(1):1-21
PMID 17574959
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
Myeloid neoplasms secondary to plasma cell myeloma: an intrinsic predisposition or therapy-related phenomenon? A clinicopathologic study of 41 cases and correlation of cytogenetic features with treatment regimens
Reddi DM, Lu CM, Fedoriw G, Liu YC, Wang FF, Ely S, Boswell EL, Louissaint A Jr, Arcasoy MO, Goodman BK, Wang E
Am J Clin Pathol 2012 Dec;138(6):855-66
PMID 23161720
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, Jäger U, Sperr W, Greinix HT, König 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
Acute monoblastic leukemia (FAB-M5b) with t(8;14)(p11;q11
Slovak ML, Nemana L, Traweek ST, Stroh JA
1) Cancer Genet Cytogenet
PMID 1756469
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
Recurrent chromosomal defects are found in most patients with acute nonlymphocytic leukemia
Yunis JJ
Cancer Genet Cytogenet 1984 Feb;11(2):125-37
PMID 6692334


This paper should be referenced as such :
Adriana Zamecnikova
i(5)(p10) in hematological malignancies
Atlas Genet Cytogenet Oncol Haematol. 2019;23(10):304-306.
Free journal version : [ pdf ]   [ DOI ]
On line version :

External links

arrayMap (UZH-SIB Zurich)Morph ( 9875/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9873/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9874/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9866/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9867/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9891/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9840/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9805/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9920/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9732/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9823/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Dec 14 18:24:43 CET 2020

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us