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Written2015-09Adriana Zamecnikova, Soad Al Bahar
Kuwait Cancer Control Center, Department of Hematology, Kuwait

Abstract Review on t(1;12)(q11-21;p11-13), with data on clinics.

(Note : for Links provided by Atlas : click)


ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1652

Clinics and Pathology

Disease Myeloid disorders, less frequently multiple myeloma and lymphoid malignancies
Note The balanced t(1;12)(q21;p13) translocation results in a ETV6 / ARNT fusion gene.
Phenotype / cell stem origin 16 cases with an unbalanced sex ratio (11 males/5 females aged 0 to 79-years old). Most cases were diagnosed with myeloid malignancies (10 patients; 7 males and 3 females aged 0 to 72 years old): 3 patients with refractory anemia (RA) (Pedersen-Bjergaard et al., 1998; Andersen et al., 2005; Gerr et al., 2006), among them 2 were treated for multiple myeloma (MM) (Pedersen-Bjergaard et al., 1998; Andersen et al., 2005) and 7 patients were diagnosed with acute myeloid leukemia (AML) (Trent et al., 1983; La Starza et al., 1999; Odero et al., 2001; Andersen et al., 2005; Fitzgibbon et al., 2005; Raghavan et al., 2005; Gerr et al., 2006; Tuborgh et al., 2013; Parihar et al., 2014). The AML cases were most often M5 AML (5/7) and in this small AML M5 series, 3 cases are found in infant patients. 3 cases were diagnosed with multiple myeloma (Calasanz et al., 1997; González et al., 2004; Gabrea et al., 2008) and 3 with lymphoid malignancies: chronic lymphocytic leukemia (CLL) (Miyamoto et al., 1981), Burkitt's lymphoma (Schoch et al., 1995) and mature B-cell neoplasm (Kuroda et al., 2000) (Table 1).





Myeloid neoplasms






RA post MM













45-47,XY,+del(1)(p21),dic(1;7)(p11;q11),der(6)t(3;6)(?;p?22),t(6;21)(p?22;q22), dic(7;13)(p11;p11), der(12)t(1;12)(q21;p13)












47,XY,+8,add(9)(p11),+add(9)(q11),del(20)(p11),+21,add(21)(p11)x2/47, idem, der(1)del(1)(p34)t(1;21)(q12;p12),der(12)t(1;12)(q12;p12),add(14)(p11),-add(21)




47,XY,t(6;19;11)(p22;p13;q23),+der(6)t(6;11)(p22;q23)/48,idem,+8/48,idem,+8, der(12)t(1;12)(q11;p13)/48,X,der(Y)t(Y;1)(q12;q11),t(6;19;11),+der(6)t(6;11),+8






Multiple myeloma











46-47,X,-X,der(1;16)(q10;p10),-4,+5,+7,t(8;22)(q24;q11),der(12)t(1;12)(q11-12;p13),-13,+del(15)(q12q13),der(17)(1;17)(q11-12;p13),+18,der(20)t(19;20) (?;q2?2),+21


B-cell neoplasms










B-cell neoplasm



Abbreviations: Ref, reference; M, male; F, female; AML, acute myeloid leukemia; RA, refractory anemia; MM, multiple myeloma; RAEB, refractory anemia with excess of blasts; CLL, chronic lymphocytic leukemia; BL, Burkitt's lymphoma.
References: 1. Trent et al., 1983; 2. Pedersen-Bjergaard et al., 1998; 3. La Starza et al., 1999; 4. Odero et al., 2001; 5. Andersen et al., 2005; 6. Fitzgibbon et al., 2005; 7. Raghavan et al., 2005; 8. Gerr et al., 2006; 9. Tuborgh et al., 2013; 10. Parihar et al., 2014; 11. Calasanz et al., 1997; 12. González et al., 2004; 13. Gabrea et al., 2008; 14. Miyamoto et al., 1981; 15. Schoch et al., 1995; 16. Kuroda et al., 2000.

Prognosis Unknown; may be unfavorable in association with complex karyotypes and in association with poor-risk genetic features.


Cytogenetics Morphological Unbalanced rearrangement; breakpoint has been defined on 1q to be between q11-q21; breakpoints in 12p are heterogeneous (assigned to chromosome bands from 12p11 to p13); most of cases reported 12p13 breakpoint (9 out of 16 cases).
Sole aberration in 3 AML patients (Trent et al., 1983; Fitzgibbon et al., 2005; Raghavan et al., 2005) and part of a complex karyotype in the remaining AML cases that are associated with +8 in 3 (La Starza et al., 1999; Gerr et al., 2006; Tuborgh et al., 2013) and 11q23 aberration in 2 patients (Odero et al., 2001; Tuborgh et al., 2013). Found in complex karyotypes and in association with t(11;14)(q13;q32) in 1 MM patient (Calasanz et al., 1997) and with 8q24 rearrangement in both lymphoma cases (Schoch et al., 1995; Kuroda et al., 2000).

Genes involved and Proteins

Note This unbalanced translocation is likely to be molecularly heterogeneous and whether the same gene(s) are involved in both myeloid and lymphoid malignancies is unknown.

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis Unbalanced translocations between the long arm of chromosome 1 and the short arm of chromosome 12 are infrequent but might be relatively specific to myeloid-lineage malignancies. Although cytogenetically heterogeneous, der(12)t(1;12)(q11-21;p11-13) results in a gain of 1q leading to genomic imbalances. Gains/amplification of 1q are common in a broad spectrum of myeloid and lymphoid haematological malignancies indicating that that genes of the 1q region may provide selective growth advantages for the leukemic cells in a variety of neoplasms.
The unbalanced der(12)t(1;12)(q11-21;p11-13) may be present as the sole anomaly or in association with complex karyotypes, implicating that it may have a key role in disease initiation and/or progression. Alternatively, it is possible that genes on the 12p11-p13 region may also be involved in disease pathogenesis either as a result of the chromosome translocation and/or deletions. Notably, chromosome 12 breakpoint in der(12)t(1;12)(q11-21;p11-13) is most often localized on 12p13, that include the TEL/ETV6 gene, therefore it is possible that ETV6 may be affected by the translocation, at least in some patients. In addition, 12p rearrangements are frequently accompanied by small interstitial deletions that include ETV6 and CDKN1B among other genes. Thus, haploinsufficiency or loss of tumor suppressor function of genes located on the 12p11-p13 region may play a role in oncogenesis. Whether genes located on the 12p11-p13 region are involved in this aberration has not been determined.


Centromeric breakage and highly rearranged chromosome derivatives associated with mutations of TP53 are common in therapy-related MDS and AML after therapy with alkylating agents: an M-FISH study
Andersen MK, Christiansen DH, Pedersen-Bjergaard J
Genes Chromosomes Cancer 2005 Apr;42(4):358-71
PMID 15645489
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
Association between acquired uniparental disomy and homozygous gene mutation in acute myeloid leukemias
Fitzgibbon J, Smith LL, Raghavan M, Smith ML, Debernardi S, Skoulakis S, Lillington D, Lister TA, Young BD
Cancer Res 2005 Oct 15;65(20):9152-4
PMID 16230371
Secondary genomic rearrangements involving immunoglobulin or MYC loci show similar prevalences in hyperdiploid and nonhyperdiploid myeloma tumors
Gabrea A, Martelli ML, Qi Y, Roschke A, Barlogie B, Shaughnessy JD Jr, Sawyer JR, Kuehl WM
Genes Chromosomes Cancer 2008 Jul;47(7):573-90
PMID 18381641
Fluorescence in situ hybridization reveals closely correlated results in cytological and histological specimens of hematological neoplasias compared to conventional cytogenetics
Gerr H, Gadzicki D, Kreipe H, Schlegelberger B, Wilkens L
Pathobiology 2006;73(6):271-9
PMID 17374964
The value of fluorescence in situ hybridization for the detection of 11q in multiple myeloma
González MB, Hernández JM, García JL, Lumbreras E, Castellanos M, Hernández JM, Fernández-Calvo J, Gutiérrez NC, San Miguel JF
Haematologica 2004 Oct;89(10):1213-8
PMID 15477206
Primary cardiac lymphoma with variant Burkitt-type translocation, t(8;22)(q24;q11)
Kuroda J, Kimura S, Akaogi T, Hayashi H, Abe T, Kobayashi Y, Kondo M
Am J Hematol 2000 Dec;65(4):327-8
PMID 11074568
Characterization of 12p molecular events outside ETV6 in complex karyotypes of acute myeloid malignancies
La Starza R, Stella M, Testoni N, Di Bona E, Ciolli S, Marynen P, Martelli MF, Mandelli F, Mecucci C
Br J Haematol 1999 Nov;107(2):340-6
PMID 10583222
Abnormalities of chromosome no
Miyamoto K, Hamasaki K, Kitajima K, Adachi T, Tanaka T, Sato J
1 related to blood dyscrasias: study of 10 cases Acta Med Okayama
PMID 6456645
Further characterization of complex chromosomal rearrangements in myeloid malignancies: spectral karyotyping adds precision in defining abnormalities associated with poor prognosis
Odero MD, Carlson KM, Calasanz MJ, Rowley JD
Leukemia 2001 Jul;15(7):1133-6
PMID 11455985
Jumping translocation in a case of de novo infant acute myeloid leukemia
Parihar M, Gupta A, Yadav AK, Mishra DK, Bhattacharyya A, Chandy M
Pediatr Blood Cancer 2014 Feb;61(2):387-9
PMID 24019227
Cytogenetically unrelated clones in therapy-related myelodysplasia and acute myeloid leukemia: experience from the Copenhagen series updated to 180 consecutive cases
Pedersen-Bjergaard J, Timshel S, Andersen MK, Andersen AS, Philip P
Genes Chromosomes Cancer 1998 Dec;23(4):337-49
Genome-wide single nucleotide polymorphism analysis reveals frequent partial uniparental disomy due to somatic recombination in acute myeloid leukemias
Raghavan M, Lillington DM, Skoulakis S, Debernardi S, Chaplin T, Foot NJ, Lister TA, Young BD
Cancer Res 2005 Jan 15;65(2):375-8
PMID 15695375
17p anomalies in lymphoid malignancies: diagnostic and prognostic implications
Schoch C, Rieder H, Stollmann-Gibbels B, Freund M, Tischler HJ, Silling-Engelhardt G, Fonatsch C
Leuk Lymphoma 1995 Apr;17(3-4):271-9
PMID 8580796
Cytogenetic analysis of leukaemic colonies from acute and chronic myelogenous leukaemia
Trent JM, Davis JR, Durie BG
Br J Cancer 1983 Jan;47(1):103-9
PMID 6571782
Complex three-way translocation involving MLL, ELL, RREB1, and CMAHP genes in an infant with acute myeloid leukemia and t(6;19;11)(p22
Tuborgh A, Meyer C, Marschalek R, Preiss B, Hasle H, Kjeldsen E
2;p13 1;q23
PMID 23735562


This paper should be referenced as such :
Adriana Zamecnikova, Soad Al Bahar
Atlas Genet Cytogenet Oncol Haematol. 2016;20(9):499-501.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)


External links

Mitelman databaset(1;12)(q11-21;p11-13)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
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