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i(22)(q10) in myeloid malignancies

Written2018-03Adriana Zamecnikova
Kuwait Cancer Control Center, Kuwait

Abstract Isochromosome i(22)(q10) is a rare but non-random karyotypic change in hematologic malignancies, often associated with complex karyotypes and with partial or complete loss of chromosomes 5 and/or 7.

Keywords Isochromosome; chromosome 22.

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ICD-Topo C420,C421,C424
ICD-Morpho 9875/3
ICD-Morpho 9983/3 Refractory anaemia with excess blasts
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
ICD-Morpho 9874/3 AML with maturation
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 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1819
  Partial karyotypes with i(22)(q10) (A). Fluorescence in situ hybridization with LSI BCR/ABL dual color probe revealing extra copy of the BCR gene on 22q11 as a result of isochromosome formation (Abott Molecular/Vysis, US) (B).

Clinics and Pathology

Disease Chronic and acute myeloid malignancies
Phenotype / cell stem origin Chronic myeloid malignancies in 7 (4 males and 3 females aged 59 to 73 years, median 68 years): refractory anemia with excess of blasts in 5 (Musilova & Michalova 1988; Geddes et al., 1990; Padua et al., 1998; Martinez-Ramirez et al., 2004; Lessard et al., 2007), 1 myelodysplastic syndrome (Andersen et al., 2005) and 1 chronic myeloid leukemia (Werner et al., 1991).
Acute myeloid leukemia in 16 (10 males and 6 females; median age 61 years; range 2-76 years): 5 with M2 (Berger et al., 1987; Van Limbergen et al., 2002; Rucker et al., 2006; Xu et al., 2008; ), 2 with M4 (Shurtleff et al., 1995; Johansson et al., 1997; Asou et al., 2009; ), 1 with M5 (Gervais et al., 2008), 1 with M6 (Bitter et al., 1985) and 7 with unspecified AML (Michels et al., 1989; Pedersen & Jensen; GFCH 1996; Morrison et al., 2002; Lugthart et al., 2010; Haferlach et al., 2012; Lavallee et al., 2015).
Epidemiology 23 patients (14 males, 9 females aged 2 to 76 years; median 63 years).
Prognosis The presence of i(22)(q10) in association with chromosome 5 and/or chromosome 7 anomalies in complex karyotypes is indicator of poor prognosis, representing a therapeutic challenge.


Note To exclude the possibility that der(22) chromosome contain two centromeres, use of centromere 22-specific FISH probes is recommended.
Cytogenetics Morphological Sole anomaly in 1 patient, loss of 5 and/or 7 chromosomal material seemed the most common event, and their losses in combination were observed in many cases: found with del(5q)/-5 in 4, with simultaneous del(5q)/del(7q) or del(7q)/-7 in 8 and with monosomy of both chromosomes in 2. Found as an additional anomaly to inv(16)(p13q22) in 2 and with miscellaneous or highly complex anomalies in the remaining patients.

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis While trisomy 22 is a well know anomaly in myeloid leukemia, in particular, acute myelomonocytic leukemia with eosinophilia, i(22)(q10) is less common. The i(22q) formation leads to the gain of the entire long arm of chromosome 22 suggesting its possible role in oncogenesis. Gain of the whole long arm leads to overexpression of genes located on 22q due to a dosage effect. i(22)(q10) is mainly found as part of complex karyotypes, therefore may not be the primary disease determining aberration but rather a secondary event associated with disease evolution.


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This paper should be referenced as such :
Adriana Zamecnikova
i(22)(q10) in myeloid malignancies
Atlas Genet Cytogenet Oncol Haematol. 2019;23(4):95-97.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)


External links

Mitelman databasei(22)(q10)
arrayMap (UZH-SIB Zurich)Morph ( 9875/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9983/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9989/3) -   [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 ( 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 ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
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