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t(12;13)(p13;q14) LIN00598/ETV6

Written2007-11Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
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 1323

Clinics and Pathology

Disease Acute lymphoblastic leukemia (ALL) and myeloid malignancies.
Note This translocation is likely to be molecularly heterogeneous.
Epidemiology Only one case to date with identification of ETV6 and TTL as genes involved in the translocation : a 46 year-old male patient with ALL (blasts were CD10+/-, CD19+) (Qiao et al., 2003)..
Clinics Altogether, 15 cases are available:
Pre-B or early pre-B ALL cases, with an unbalanced sex ratio (7M/2F), and a median age of 6 years (range: 2-46), 7 of 9 patients being children (Raimondi et al., 1989; Pui et al., 1991; Raimondi et al., 1991; Chan et al., 1994; Kobayashi et al., 1994; Raimondi et al., 1997; Coignet et al., 1999; Qiao et al., 2003).
Myeloid cases: 1 chronic myelomonocytic leukaemia (CMML), 1 chronic myelogenous leukaemia in blast crisis (BC-CML), 1 M3 acute myeloid leukaemia (AML), 1 M0-AML, and 2 treatment related AML (t-AML). In contrast with lymphoid cases, the sex ratio was balanced (3M/3F), and median age was 58 years (range (51-70) (Zitzelsberger et al., 1990; Abeliovich et al., 1993; Fugazza et al., 1997; Tosi et al., 1998; Castro et al., 2000; Temperani et al., 2000).
Prognosis The patient with ETV6/TTL hybrid gene attained complete remission, but relapsed and died of refractory disease 4 years after diagnosis.


Additional anomalies The t(12;13) accompanied a del(5q) in two (t-AML) cases, del(7q) in one of these two cases, +8 in one myeloid case, t(9;22)(q34;q11) in the BC-CML case, a PML / RARA hybrid without any apparent t(15;17) in the M3 case, an additional 21 in two ALL cases (+21 once, i(21q) once). The t(12;13) was the sole anomaly in four cases (2 ALL and two AML).

Genes involved and Proteins

Note ETV6 was found implicated in 4 ALL cases and 1 AML case; most other cases have been published before ETV6/TEL was known.
Gene NameETV6 (ets variant 6)
Location 12p13.2
Protein HLH domain responsible for hetero- and homodimerization in N-term, and an ETS domain responsible for sequence specific DNA-binding in C-term. Transcriptional regulator; involved in bone marrow hematopoiesis.
Gene NameLINC00598 long intergenic non-protein coding RNA 598
Location 13q14
Protein This gene/protein remains poorly known: there has been no study on it since the princeps paper by Qiao et al (2003).

Result of the chromosomal anomaly

Hybrid gene
Description Both reciprocal transcripts, TTL/ETV6 and ETV6/TTL, were detected. ETV6/TTL fusion transcript comprises 5' ETV6 exon 1, fused to TLL exon 9, resulting in a potential 31 amino acids peptid.
The other transcript, TTL/ETV6, comprises 5' TTL exons 1 to 5 or to 8a, fused to ETV6 from exon 2. The predicted 530 amino acids fusion protein consists mostly of ETV6 with both HLH and ETS domains, and could have modified transcriptional activities. On the other hand, a loss of function of ETV6 and/or of TTL could play the critical role in leukemogenesis.

To be noted

Additional cases, WITH charaterization of the genes involved in the translocation, are needed to delineate the epidemiology of this/these rare entity/ies:
you are welcome to submit a paper to our Case Report section.


Therapy-related myelodysplastic syndrome. Two cytogenetically unrelated abnormal clones in a patient with multiple myeloma.
Abeliovich D, Yehuda O, Ben-Neriah S, Matzner Y.
Cancer Genet Cytogenet. 1993 Oct 15; 70(2): 117-9.
PMID 8242590
Deletions of chromosome 5q13.3 and 17p loci cooperate in myeloid neoplasms.
Castro PD, Liang JC, Nagarajan L.
Blood. 2000 Mar 15; 95(6): 2138-43.
PMID 10706886
Cytogenetics and immunophenotypes of childhood acute lymphoblastic leukemia in Hong Kong.
Chan LC, Ha SY, Ching LM, Lee CP, Lau YL, Yuen P, Leung NK.
Cancer Genet Cytogenet. 1994 Sep; 76(2): 118-24.
PMID 7923060
Myeloid- and lymphoid-specific breakpoint cluster regions in chromosome band 13q14 in acute leukemia.
Coignet LJ, Lima CS, Min T, Streubel B, Swansbury J, Telford N, Swanton S, Bowen A, Nagai M, Catovsky D, Fonatsch C, Dyer MJ.
Genes Chromosomes Cancer. 1999 Jul; 25(3): 222-9.
PMID 10379868
Duplication of the der(13)t(12;13)(p13;q14) in chronic myelomonocytic leukemia.
Fugazza G, Cerri R, Bruzzone R, Patrone F, Sessarego M.
Haematologica. 1997 May-Jun; 82(3): 336-7.
PMID 9234584
Clinical significance of chromosome abnormalities in childhood acute lymphoblastic leukemia in Japan.
Kobayashi H, Maseki N, Homma C, Sakurai M, Kaneko Y.
Leukemia. 1994 Nov; 8(11): 1944-50.
PMID 7967740
Characterization of childhood acute leukemia with multiple myeloid and lymphoid markers at diagnosis and at relapse.
Pui CH, Raimondi SC, Head DR, Schell MJ, Rivera GK, Mirro J Jr, Crist WM, Behm FG.
Blood. 1991 Sep 1; 78(5): 1327-37.
PMID 1878594
Identification of a novel fusion gene, TTL, fused to ETV6 in acute lymphoblastic leukemia with t(12;13)(p13;q14), and its implication in leukemogenesis.
Qiao Y, Ogawa S, Hangaishi A, Yuji K, Izutsu K, Kunisato A, Imai Y, Wang L, Hosoya N, Nannya Y, Sato Y, Maki K, Mitani K, Hirai H.
Leukemia. 2003 Jun; 17(6): 1112-20.
PMID 12764377
12p abnormalities and the TEL gene (ETV6) in childhood acute lymphoblastic leukemia.
Raimondi SC, Shurtleff SA, Downing JR, Rubnitz J, Mathew S, Hancock M, Pui CH, Rivera GK, Grosveld GC, Behm FG.
Blood. 1997 Dec 1; 90(11): 4559-66.
PMID 9373267
Late-appearing PML/RARalpha fusion transcript with coincidental t(12;13)(p13.2;q14) in acute promyelocytic leukemia lacking the t(15;17) cytogenetic anomaly.
Temperani P, Luppi M, Giacobbi F, Medici V, Morselli M, Barozzi P, Marasca R, Torelli G, Emilia G.
Cancer Genet Cytogenet. 2000 Jun; 119(2): 121-6.
PMID 10867147
Identification of new partner chromosomes involved in fusions with the ETV6 (TEL) gene in hematologic malignancies.
Tosi S, Giudici G, Mosna G, Harbott J, Specchia G, Grosveld G, Privitera E, Kearney L, Biondi A, Cazzaniga G.
Genes Chromosomes Cancer. 1998 Mar; 21(3): 223-9.
PMID 9523197
Cytogenetic and molecular analysis of a "masked" Philadelphia chromosome in chronic and blastic phases of chronic myeloid leukemia.
Zitzelsberger H, Bauchinger M, Wilmanns W, Strauss PG.
Cancer Genet Cytogenet. 1990 Jul 15; 47(2): 219-25.
PMID 2357696


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2008;12(6):469-470.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]

Genes ETV6 LINC00598

Translocations implicated (Data extracted from papers in the Atlas)

 t(12;13)(p13;q14) LIN00598/ETV6

External links

Mitelman databaset(12;13)(p13;q14)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9920/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9975/3) -   [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]
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