| Written | 2018-06 | Adriana Zamecnikova |
| Kuwait Cancer Control Center, Kuwait annaadria@yahoo.com |
| 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. |
| Identity |
| 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. |
| 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). |
| Genetics |
| 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. |
| Cytogenetics |
| 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 |
| 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. |
| Bibliography |
| 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 PubMed PMID: 17574959 |
| 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 |
| Citation |
| This paper should be referenced as such : |
| Zamecnikova A |
| i(5)(p10) in hematological malignancies; |
| Atlas Genet Cytogenet Oncol Haematol. in press |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/i05p10ID1825.html |
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| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Thu Aug 16 12:51:38 CEST 2018 |
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