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

2015-12-01 Soad Al Bahar , Adriana Zamecnikova Affiliation

1.Kuwait Cancer Control Center, Department of Hematology [email protected]

Clinics and Pathology

Disease

Myeloid malignancies, multiple myeloma (MM) and plasma cell leukemia (PCL).

Phenotype stem cell 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).

Genes Involved and Proteins

Result of the Chromosomal Anomaly

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).

Article Bibliography

Pubmed ID	Last Year	Title	Authors
12645649	2003	Karyotypic abnormalities in myelofibrosis following polycythemia vera.	Andrieux J et al
19380032	2009	Long-term persistence of nonpathogenic clonal chromosome abnormalities in donor hematopoietic cells after allogeneic stem cell transplantation.	Erdag G et al
3472640	1987	Three cases of translocation (8;16)(p11;p13) observed in acute myelomonocytic leukemia: a new specific subgroup?	Laï JL et al
19380030	2009	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 et al
17654686	2007	Chromosome aberrations in a series of 120 multiple myeloma cases with abnormal karyotypes.	Mohamed AN et al
15120916	2004	Identification of a novel t(1;9)(q11;q34) in acute myelocytic leukemia.	Piccaluga PP et al
10572083	1999	Chromosomal abnormalities in 478 children with acute myeloid leukemia: clinical characteristics and treatment outcome in a cooperative pediatric oncology group study-POG 8821.	Raimondi SC et al
24497533	2014	Jumping translocations of 1q12 in multiple myeloma: a novel mechanism for deletion of 17p in cytogenetically defined high-risk disease.	Sawyer JR et al
1638509	1992	A case of trisomy 5 in a Philadelphia positive leukemia.	Smadja N et al
11568011	2001	Hypodiploidy is a major prognostic factor in multiple myeloma.	Smadja NV et al
19667417	2009	Chronic myelomonocytic leukemia with der(9)t(1;9)(q11;q34) as a sole abnormality.	Suh B et al
6401225	1983	Cytogenetic studies and clinical aspects of patients with plasma cell leukemia and leukemic macroglobulinemia.	Ueshima Y et al
24056718	2013	The landscape of somatic mutations in Down syndrome-related myeloid disorders.	Yoshida K et al

Citation

Soad Al Bahar ; Adriana Zamecnikova

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

Atlas Genet Cytogenet Oncol Haematol. 2015-12-01

Online version: http://atlasgeneticsoncology.org/haematological/1648/der(9)t(1

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