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Unbalanced whole-arm translocation der(1;10)(q10-q11;p10-p12)

Written2015-11Adriana Zamecnikova, Soad Al Bahar
Kuwait Cancer Control Center, Department of Hematology annaadria@yahoo.com

Abstract Unbalanced whole-arm chromosome translocations (WAT) involving the long arm of chromosome 1 are relatively rare anomalies in hematologic malignancies. They may involve acrocentric chromosomes (e.g der(15)t(1;15)(q10;p10), der(21)t(1;21)(q10;p13) and der(22)t(1;22)(q10;p10) ) or telomeric regions of nonacrocentric chromosomes (e.g der(12)t(1;12) (q10;q24.3) and der(19)t(1;19)(q10;q13.4). The most common WAT of 1q to centromeric or pericentromeric regions of other recipient chromosomes (indicated as p10 or q10;p10 or q10) are the der(1;7), der(1;13), der(16)t(1;16) and der(19)t(1;19) that are non-randomly distributed among hematological malignancies. The derivatives of these translocations have been shown to give rise to a dicentric chromosome in a few cases (Sawyer et al., 1998; Fogu et al 2012).

Keywords chromosome 1; chromosome 10; hematologic malignancies; multiple myeloma; myeloid malignancies.

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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 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1650

Clinics and Pathology

Disease Myeloid malignancies and multiple myeloma
Epidemiology Four recurrent translocations of 1q10-q11 to centromeric or pericentromeric regions of 10p have been identified, including an 61-year old male patient who was diagnosed with refractory anemia with excess blasts-1 (Odish et al., 2007), a 1-year old acute myelomonocytic leukemia (AML- M4) infant (Brown et al., 2012), a 49-years old chronic myeloid leukemia (CML) male patient and a male multiple myeloma (MM) patient with (Calasanz et al., 1997). Because of the close breakpoint in the 10p centromecric region, a case with der(10)t(1;10)(q11;p12) is included (Christodoulidou et al., 1994) (Table 1).
In addition, an unbalanced der(1)t(1;10) that resulted in trisomy of the long arm of chromosome 1 and monosomy of the short arm of chromosome 10 have been described in a 36-years old male case diagnosed with refractory cytopenia with multilineage dysplasia. The rearranged chromosome contained the centromeres of both chromosomes 1 and 10, leading to a dic(1;10)(p11;p11) chromosome (Sambani et al., 2002).

 

Sex/Age

Disease

Karyotype

1.

M/49

CML

48,XY,+8,t(9;22),der(10)t(1;10)(q11;p12)

2.

M

MM

46,XY,del(5)(q13q22),der(10)t(1;10)(q11;p11),t(11;14)(q13;q32),der(14)t(11;14)/46,XY,del(5),t(11;14),der(12) t(1;12)(q11;p11),der(14)t(11;14)

3.

M/ 36

MDS

46,XY,+1,dic(1;10)(p11;p11)

4.

61/M

MDS

46,XY,+1,der(1;10)(q10;p10)

5.

1/F

AML

46,XX,t(8;16)(p11;p13)/46,idem,der(10)t(1;10)(q11;p11)/46,idem,add(7)(p21)/46,idem,add(7),der(10)


Table 1. Reported patients with der(1;10)(q10-q11;p10-p12) in hematologic malignancies.
1. Christodoulidou et al., 1994; 2. Calasanz et al., 1997 ; 3. Sambani et al., 2002; 4. Odish et al., 2007; 5. Brown et al., 2012.
Prognosis Only sporadic cases with uncertain clinical importance.

Cytogenetics

Cytogenetics Morphological Characterized by the presence of two copies of normal chromosome 1, a single copy of normal chromosome 10 and a der(10) chromosome containing 1q and 10p.
Additional anomalies Appears as a sole chromosomal abnormality in a patient with MDS (Odish et al., 2007), found in association with +8 and in the Ph-positive CML, complex karyotype in the remaining cases.

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis Unbalanced whole-arm chromosome translocations with involvement of the 1q heterochromatin are non-random chromosomal rearrangements, detectable in both hematologic neoplasms and lymphomas. WAT of 1q to centromeric or pericentromeric regions of a partner chromosome involve breakage of non-homologous chromosomes at their centromeres leading to aberrant heterochromatin/euchromatin junctions. The main consequence of unbalanced WAT 1q translocation is a genomic imbalance resulting from the gain of the long arm of chromosome 1 and loss of the entire whole arm of the partner chromosome. Genomic imbalances leading to gene dosage abnormalities are likely to play an important role in neoplastic processes that are associated with chromosome 1q WAT rearrangements.
  

Bibliography

Prognosis of patients with t(8;16)(p11;p13) acute myeloid leukemia
Brown T, Swansbury J, Taj MM
Leuk Lymphoma 2012 Feb;53(2):338-41
PMID 21846182
 
Cytogenetic analysis of 280 patients with multiple myeloma and related disorders: primary breakpoints and clinical correlations
Calasanz MJ, Cigudosa JC, Odero MD, Ferreira C, Ardanaz MT, Fraile A, Carrasco JL, Solé F, Cuesta B, Gullón A
Genes Chromosomes Cancer 1997 Feb;18(2):84-93
PMID 9115968
 
Unbalanced 1q whole-arm translocation resulting in der(14)t(1;14)(q11-12;p11) in myelodysplastic syndrome
Fogu G, Campus PM, Cambosu F, Moro MA, Sanna R, Fozza C, Nieddu RM, Longinotti M, Montella A
Cytogenet Genome Res 2012;136(4):256-63
PMID 22571950
 
Recurrent unbalanced whole-arm t(1;10)(q10;p10) in myelodysplastic syndrome: a case report and literature review
Odish OF, Gotoh A, Liu YC, Shoji N, Kimura Y, Kodama A, Ohyashiki K
Cancer Genet Cytogenet 2007 Jan 15;172(2):165-7
PMID 17213027
 
A novel dic(1;10) in a patient with myelodysplastic syndrome
Sambani C, La Starza R, Stavropoulou C, Manola KN, Harhalakis N, Mecucci C
Cancer Genet Cytogenet 2002 Feb;133(1):87-9
PMID 11890996
 
Jumping translocations of chromosome 1q in multiple myeloma: evidence for a mechanism involving decondensation of pericentromeric heterochromatin
Sawyer JR, Tricot G, Mattox S, Jagannath S, Barlogie B
Blood 1998 Mar 1;91(5):1732-41
PMID 9473240
 

Citation

This paper should be referenced as such :
Zamecnikova A, Al Bahar S
Unbalanced whole-arm translocation der(1;10)(q10-q11;p10-p12);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/der0110q10p10ID1650.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(1;10)(q10;p10)

External links

Mitelman databaset(1;10)(q10;p10) [Case List]    t(1;10)(q10;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 ( 9975/3) - 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 databaseUnbalanced whole-arm translocation der(1;10)(q10-q11;p10-p12)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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