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der(9)t(1;9)(q11-12;q34)

Written2015-12Adriana Zamecnikova, Soad Al Bahar
Kuwait Cancer Control Center, Department of Hematology annaadria@yahoo.com

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9837/3 T lymphoblastic leukaemia/lymphoma
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 1648

Clinics and Pathology

Disease Myeloid malignancies, multiple myeloma (MM) and plasma cell leukemia (PCL).
Phenotype / cell stem origin 3 patients were diagnosed with myeloid malignancies: 1 patient with acute myelomonocytic leukemia (Piccaluga et al., 2004), 1 with polycytemia vera (PV) (Andrieux et al 2003) and 1 with chronic myelomonocytic leukemia (CMML) (Suh et al., 2009). There were 4 patients with MM (Smadja et al., 2001; Mohamedet al., 2007; Sawyer et al., 2014) and 1 case was diagnosed with plasma cell leukemia (Ueshima et al., 1983).
6 additional cases were found with various 1q21-25 and 9q34 breakpoints: 4 AML cases (Lai et al., 1987; Smadja et al 1992; Raimondi et al., 1999; Yoshida et al., 2013), 1 Chronic myelogenous leukemia (CML) patient (Erdag et al., 2009) and 1 patient withbiphenotypic leukemia (Matsuda et., al 2009). (Table 1)
Table 1. Reported patients with der(9)(q11-q12;q34) including additional cases with 1q21-q25 and 9q34 breakpoints.

 

 

der(9)t(1;9)(q11-12;q34)

 

M/35

PCL

44,X,-Y,t(6;8)(q13;p11),der(9)t(1;9)(q12;q34)dup(1)(q12q44),-13

1.

M

MM

45,XY,del(1)(p21p31),der(9)t(1;9)(q11;q34),del(12)(q13q24),-13,add(14)(q32),del(16)(q21),+19/44,idem,del(6)(q16),der(14;15)(q10;q10)add(14)(q32)/90,idemx2

2.

M

MM

46-56,XY,+2,+3,+5,+6,del(6)(q23)x2,+7,+9,der(9)t(1;9)(q12;q34)x2,+11,+15,+17,+19,+mar

3.

F/52

PV

46,XX,del(3)(p21),der(9)t(1;9)(q11;q34)
46,XX,der(9)t(1;9)

4.

F/56

AML- M4

46,XX,der(9)t(1;9)(q11;q34)

5.

M/57

MM

44,XY,der(3)t(1;3)(q21;q29),t(4;14)(p16;q32),der(9)t(1;9)(q12;q34),-10,-13

6.

M/45

CMML

46,XY,der(9)t(1;9)(q11;q34)BCR-ABL1 negative

7.

M

MM

82-92,XXY,-Y,-1,-1,der(1)add(1)(p36)add(1)(q42),-2,-2,del(3)(q21)x2,-4,-4,add(5)(q15),der(5)
t(1;5)(q12;q15),add(6)(q21)x2,+7,+7,+7,add(7)(p22),add(7)(q36),der(7)t(1;7)(q12;q32)x3,+8,der(8)
t(1;8)(q12;q22)x2,+9,+9,add(9)(p24),der(9)t(1;9)(q12;q34),der(10)t(1;10)(q12;q26),add(11)(p15)x2,
-12,-13,del(?13)(q12q22)x3,-14,der(14)t(1;14)(p11;q32)x3,-15,15,add(15)(p11),add(16)(q24),-17,
add(17)(p11)x2,+19,+19,-20,+21,add(21)(p11),+22,add(22)(q13),inc

8.

 

 

der(9)(1;9)(q21-q25;q34)

 

F/59

AML- M4

46,XX,t(8;16)(p11;p13)/46,idem,der(3)t(3;11)(q27;q13),der(9)t(1;9)(q24;q34)

9.

F/54

AML- M7

48,XX,+5,t(9;22)(q34;q11),+der(22)t(9;22)
47,XX,t(9;22),+der(22)/47,idem,der(9)t(1;9)(q21;q34)/46,XX,del(1)(p11),add(3)(q26),+8,t(9;22),-21
47,XX,t(8;10)(q21;q23),der(9),t(9;22),add(12)(q24),del(13)(q13q32),+der(22)

10.

F

AML

48,XX,der(9)t(1;9)(q23;q34),+11,+21

11.

M/66

CML

46,XY,t(2;17)(p13;q22),der(9)t(1;9)(q21;q34),t(9;22)(q34;q11),der(19)t(19;20)(p13;p11),-20,
der(22)t(9;22)/46,X,t(X;20)(q22;q13),t(6;12)(p21;q24). 5 months after PBSCT

12.

F/0

BAL

46,XX,+1,t(1;15;11;10)(p36;q11;q23;q24),der(1;12)(q10;q10)/46,idem,t(1;12)(p10;p10)/46,idem,
t(1;12)(p10;p10),der(9)t(1;9)(q25;q34)

13.

F/1

AML-M7

46,XX,i(7)(q10),der(9)t(1;9)(q25;q34),-16,add(19)(q13),+21c

14.


Abbreviations: M, male; F, female; PCL, plasma cell leukemia; MM, multiple myeloma; PV, polycythemia vera; AML-M4, acute myelomonocytic leukemia; CMML, chronic myelomonocytic leukemia; AML-M7, acute megakaryoblastic leukemia; CML, chronic myelomonocytic leukemia; PBSCT, peripheral blood stem cell transplantation; BAL, bilineage or biphenotypic leukemia.
1. Ueshima et al., 1983; 2-3. Smadja et al., 2001; 4. Andrieux et al., 2003; 5. Piccaluga et al., 2004; 6. Mohamed et al 2007; 7. Suh et al., 2009; 8. Sawyer et al 2014; 9. Lai et al 1987; 10. Smadja et al 1992; 11. Raimondi et al., 1999; 12. Erdag et al 2009; 13. Matsuda et al 2009; 14. Yoshida et al 2013.

Epidemiology There was 7 male and 7 female patients (sex ratio 1:1) aged 0 to 66 years including 2 infant patients, one of them with Down syndrome.
Prognosis Unknown, very rare occurrence in patients with hematologic malignancies.

Cytogenetics

Cytogenetics Morphological Presents as 2 normal chromosomes 1, one normal chromosome 9 and a der(9)t(1;9) chromosome, resulting in 1q trisomy associated with partial monosomy of 9q.
Additional anomalies All the 3 reported patients with myeloid malignancies showed this translocation either as the sole abnormality (Piccaluga et al., 2004; Suh et al., 2009) or as part of a simple karyotype (Andrieux et al., 2003). A complex karyotype was present in all MM patients, among them the 14q32 rearrangement was found as an accompanying anomaly in 3 out of 4 patients (Smadja et al., 2001; Mohamed et al., 2007; Sawyer et al., 2014).

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis The unbalanced der(9)t(1;9)(q11-12;q34) is created by fusion in the centromeric region of 1q to a distant telomeric region of chromosome 9. It is a rare anomaly in patients with hematologic malignancies that results in trisomy of 1q associated with partial monosomy of 9q. The formation of an extra copy of the entire 1q suggest that trisomy of genes located on 1q, rather than partial 9q monosomy is involved in disease pathogenesis. This is further supported by the occurrence of additional cases of der(9)t(1;9) with various 1q21-25 breakpoints, suggesting that altered gene dosages in a part or the entire long arm of chromosome 1 may be important for disease initiation or progression. Alternatively, the breakpoint at 9q34, where the ABL1 gene is located rises the possibility of its involvement in the translocation, at least in some patients. However, the absence of ABL1 rearrangement or the BCR / ABL1 fusion gene was excluded only in sporadic cases (Piccaluga et al., 2004; Suh et al., 2009). Because of the rare occurrence, further studies are needed to evaluate the genes involved in the oncogenesis as well as the suggested association of this rearrangement with monocytic-lineage leukemia (Suh et al., 2009).
  

Bibliography

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Cancer Genet Cytogenet 2003 Jan 15;140(2):118-23
PMID 12645649
 
Long-term persistence of nonpathogenic clonal chromosome abnormalities in donor hematopoietic cells after allogeneic stem cell transplantation
Erdag G, Meck JM, Meloni-Ehrig A, Matyakhina L, Donohue T, Srinivasan R, Mowrey P, Kelly J, Smith A, Childs R
Cancer Genet Cytogenet 2009 Apr 15;190(2):125-30
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Three cases of translocation (8;16)(p11;p13) observed in acute myelomonocytic leukemia: a new specific subgroup? Cancer Genet Cytogenet
Laï JL, Zandecki M, Jouet JP, Savary JB, Lambiliotte A, Bauters F, Cosson A, Deminatti M
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PMID 3472640
 
Cryptic insertion into 11q23 of MLLT10 not involved in t(1;15;11;10)(p36;q11;q23;q24) in infant acute biphenotypic leukemia
Matsuda K, Tanaka M, Araki S, Yanagisawa R, Yamauchi K, Koike K
Cancer Genet Cytogenet 2009 Apr 15;190(2):113-20
PMID 19380030
 
Chromosome aberrations in a series of 120 multiple myeloma cases with abnormal karyotypes
Mohamed AN, Bentley G, Bonnett ML, Zonder J, Al-Katib A
Am J Hematol 2007 Dec;82(12):1080-7
PMID 17654686
 
Identification of a novel t(1;9)(q11;q34) in acute myelocytic leukemia
Piccaluga PP, Luatti S, Ascani S, Bianchini M, Malagola M, Rondoni M, Gaitani S, Testoni N, Pileri SA, Baccarani M, Martinelli G, Visani G
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Chronic myelomonocytic leukemia with der(9)t(1;9)(q11;q34) as a sole abnormality
Suh B, Park TS, Kim JS, Song J, Kim J, Yoo JH, Choi JR
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Cytogenetic studies and clinical aspects of patients with plasma cell leukemia and leukemic macroglobulinemia
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Citation

This paper should be referenced as such :
Zamecnikova A, Al Bahar S
der(9)t(1;9)(q11-12;q34);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/der0109q11q34ID1648.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(1;9)(q11;q34)

External links

Mitelman databaset(1;9)(q11;q34) [Case List]    t(1;9)(q11;q34) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9837/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
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 databaseder(9)t(1;9)(q11-12;q34)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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