t(1;8)(p11-13;q24)

2017-04-01   Adriana Zamecnikova 

1.Kuwait Cancer Control Center, Department of Hematology, Laboratory of Cancer Genetics, Kuwait; annaadria@yahoo.com

Abstract

Review on t(1;8)(p11-13;q24), with data on clinics, and the genes involved.

Clinics and Pathology

Disease

Multiple myeloma (MM) mainly

Epidemiology

Multiple myeloma in 14 cases, found mainly in male patients (12 males and 1 female, 1 unknown) (Sawyer et al., 1998; Marzin et al., 2006; Wu et al., 2007; Gabrea et al., 2008; Sawyer et al., 2014.). Sporadic cases with lymphoid malignancies: CLL in a 64-years old male (Juliusson et al 1985) and T-cell acute lymphocytic leukemia (ALL) in a 1 year old boy (Raimondi et al 1993) (Table 1).
 Sex/AgeDiseaseKaryotype
1M/64CLL46,XY,add(9)(q34),del(11)(q22),+12,-13,-21,-22,+2mar/45,XY,+12,-21,-22/46,XY,t(1;8)(p12;q24)
2M/1T-ALL46,XY,t(1;8)(p13;q24),t(11;17)(q23;q25)
3MMM45-49,XY,t(1;8)(p11;q24),der(3)t(3;8)(p25;q?24),der(6)t(3;6)(q?21;q27),+der(7)t(7;?14)(q11;q11) t(1;14)(q11;q32),der(10)t(1;10)(q11;p15),-13,t(14;14)(q11;q32),+15,+18,+21 10-11.
4MMM47,XY,-1,t(1;8)(p11;q24),t(2;3)(q31;q27),der(3)del(3)(p21)?dup(3)(q21q25),add(4)(p12),del(5) (q22q31),?del(6)(q21q22),inv(7)(p13q32),+der(11)t(11;15)(p15;q15),der(12)t(4;12)(p12;q24), del(13)(q12q14),der(16)t(1;16)(q21;q22),+der(19)t(1;19)(p13;q13),der(21)t(21;21)(q22;?)
5?MM59,X?,t(1;8)(p1?;q24),der(2)t(2;11)(q3;?),-4,-8,-10,-12,del(12)(p?),-13,-14, +15,-16,der(16)t(9;16) (q11;q11),-18,+19,-20
6MMM41-46,X,-Y,del(1)(p12p21),+i(1)(q10),t(1;8)(p12;q24),add(6)(q12),add(7)(p12),del(7)(p12),-8,add(12) (p13),del(12)(p11),-13,-14,+1-5mar
7FMM39-41,-X,der(X)t(X;18)(q28;q11)ins(X;?)(q28;?),t(1;8)(p11-13;q24),add(2)(p25),dup(3)(q21q29), add(4)(q?31),t(4;14)(p16;q32),add(7)(p22),-8,der(9;17) (p10;q10),der(10)t(8;10)(q11;p13),-13,-14, add(15)(p11),der(15)t(9;15)(q12;p11),der(18)t(X;18),add(19)(q13),+20,der(21)t(1;21)(q23;p11)ins(21;?) (p11;?),+mar
8MMM53,X,-Y,+1,t(1;8)(p13;q24)x2,+3,+6,+7,+8,+9,+11,t(12;22)(q13;q12),-13,+15,i(17)(q10),del(20) (q11q12),+21 19-20.
9MMM55-56,Y,der(X)t(X;1)(q28;q12),t(1;8)(p13;q24),+der(1)t(1;8),+der(3)t(1;3)(q12;q29),+8,+9, +11, der(14)t(6;14)(p21;q32),+15,+17,+18+19,+20
10MMM50,X,-X,+1,der(1;16)(q10;p10),+der(1;19)(q10;p10),t(1;8)(p11;q24),+4,+9,-13,?add(14)(q32), +15,+21, +21
11MMM84,XXYY,i(1)(q10)x2,t(1;8)(p13;q24)x2,-2,-4,-4,-8,-9,i(9)(q10),t(9;12)(p22;q24)x2,-13,-13,-14,-14, add(14)(q32),-16,del(16)(q22)x2,+2mar  
12MMM53-56,X,-Y,t(1;8)(p13;q24),+i(5)(p10),+der(7)t(1;7)(q12;p21)add(1)(q?25),+9,+11,+15, +del(17) (p12),+18,+19,+20,+21,+mar/53-56,idem,-der(7),+del(7)(p12), del(12)(q13),+del(17)(q?22q?24), der(19)t(3;?;19)(p11;?;p13),der(19)t(12;?;19)(q11;?;p13)
13MMM43-47,XY,+1,der(1;8)(q10;q10),t(1;8)(p11;q24),?del(2)(q?33),der(3)t(3;?8)(q?25;q?13),del(4)(q?32), -10,del(13)(q12q22),-16,add(16)(p13),del(17)(p12),der(19)t(1;19)(q12;p13)/44-45,idem,der(1)del(1) (p11p22)t(1;15)(q21;q22),+3,-der(3),del(6)(q21),der(15)t(1;15)(q21;q22),-der(19),+ider(19)t(1;19) (q12;p13)
14MMM42,X,-Y,i(1)(q10),t(1;8)(p13;q24),add(2)(p?25),del(3)(p13p22),-4,t(5;14)(q11;q32),del(6)(q25), del(8)(p12),-10,-14,?del(18)(p11)
15MMM81,XX,-Y,-Y,+1,+1,+del(1)(p13p32)x2,t(1;8)(p13;q24)x2,der(1;16)(q10;p10)x2,der(1;22)(q10;q10) x2,-2,-4,-10,-10,add(10)(q26),-13,-13,-14,-14,-17,?del(19)(q13)x2,add(20)(p13)x2/74-75,idem, der(1;15)(q10;q10)x2,-der(1;16),-der(1;22)x2,-3,-4,-5,-9,-12,-add(20),+22,+22
16MMM61-65,XY,-X,t(1;8)(p13;q24),del(1)(p13),+del(1),der(4)t(1;4)(q12;q35),der(6)t(1;6)(q;q21),-10, add(12)(p13),-13,-14,-22

Abbreviations:M, male; F, female; CLL, chronic lymphocytic leukemia; ALL, acute lymphoblastic leukemia/lymphoblastic lymphoma; MM, multiple myeloma. >
1. Juliusson et al., 1985; 2. Raimondi et al., 1993; 3-4. Sawyer et al., 1998; 5. Marzin et al., 2006; 6. Wu et al., 2007; 7-8. Gabrea et al., 2008; 9-16. Sawyer et al., 2014CLINICS

Cytogenetics

Cytogenetics morphological

The most common breakpoints described on 1p were 1p13 (8 patients) and 1p11 (4 cases).

Additional anomalies

Found in a sideline in the CLL case (Juliusson et al., 1985) and in association with t(11;17)(q23;q25) in a T-ALL (Raimondi et al., 1993); highly complex karyotypes in MM showing mainly either pseudodiploid, hypodiploid or near-triploid/tertraploid karyotypes; associated with 14q32 rearrangements in 6 (Sawyer et al., 1998; Gabrea et al., 2008; Sawyer et al., 2014) and del(13q)/-13 was found in 10 MM patients (Sawyer et al., 1998; Marzin et al., 2006; Wu et al., 2007; Gabrea et al., 2008; Sawyer et al., 2014).

Result of the Chromosomal Anomaly

Oncogenesis

The chromosomal translocation t(1;8)(p11-p13;q24) is found mainly in multiple myeloma, indicating that it may play an important role in myeloma pathogenesis or progression of disease. While the translocation involve the MYC loci at 8q24, its rearrangement and/or overexpression was studied only in a few reported patients (Gabrea et al., 2008). Translocations involving MYC have been shown to be important in B-cell maturation or myeloma pathogenesis resulting in its increased expression and an aggressive disease phenotype. MYC translocations in MM are often complex with non-identified partner regions affecting non-IG partners (Walker et al., 2014). Therefore it is likely, that 1p11-13 is an additional partner loci not involving an IG gene causing dysregulation of MYC affecting proliferation, growth and apoptosis.

Bibliography

Pubmed IDLast YearTitleAuthors
183816412008Secondary genomic rearrangements involving immunoglobulin or MYC loci show similar prevalences in hyperdiploid and nonhyperdiploid myeloma tumors.Gabrea A et al
38711611985Prognostic information from cytogenetic analysis in chronic B-lymphocytic leukemia and leukemic immunocytoma.Juliusson G et al
166194922006Chromosome 1 abnormalities in multiple myeloma.Marzin Y et al
83297121993Cytogenetically different leukemic clones at relapse of childhood acute lymphoblastic leukemia.Raimondi SC et al
98342331998Identification of new nonrandom translocations in multiple myeloma with multicolor spectral karyotyping.Sawyer JR et al
244975332014Jumping translocations of 1q12 in multiple myeloma: a novel mechanism for deletion of 17p in cytogenetically defined high-risk disease.Sawyer JR et al
246328832014Translocations at 8q24 juxtapose MYC with genes that harbor superenhancers resulting in overexpression and poor prognosis in myeloma patients.Walker BA et al
172239152007Abnormalities of chromosome 1p/q are highly associated with chromosome 13/13q deletions and are an adverse prognostic factor for the outcome of high-dose chemotherapy in patients with multiple myeloma.Wu KL et al

Citation

Adriana Zamecnikova

t(1;8)(p11-13;q24)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/haematological/1454/t(1;8)(p11-13;q24)

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