Tumoral translocations

• t(11,16)(p11;p11)
  26 September 2007

  Tumors
  low-grade fibromyxoid sarcomas (LGFMS)
  Molecular biology
  t(11,16)(p11;p11) translocation creating FUS/CREB3L1 fusion gene.
  NB: Low-grade fibromyxoid sarcomas (LGFMS) bear either the t(7,16) (q32-34;p11) or t(11,16) (p11;p11) translocations, resulting in FUS/CREB3L2 or FUS-CREB3L1 fusions, respectively. The t(7;16)(q33;p11) translocation creating FUS/CREB3L2 fusion gene (#12960807#) (also found in hyalinizing spindle cell tumor with giant rosettes).
  References
  Guillou L, (...)

• t(9;11;19)(p22;q23;p13.3)
  18 September 2007

  Pathology
  ANLL
  Molecular biology
  fusion gene between MLL (ALL1) at 11q23 and MLLT3 (AF9) at 9p22
  Variants
  t(9;11)(p22;q23)
  References
  Vieira L, Sousa AC, Matos P, Marques B, Alaiz H, Ribeiro MJ, Braga P, da Silva MG, Jordan P. Three-way translocation involves MLL, MLLT3, and a novel cell cycle control gene, FLJ10374, in the pathogenesis of acute myeloid leukemia with t(9;11;19)(p22;q23;p13.3). Genes Chromosomes Cancer. 2006 May;45(5):455-69. PMID: (...)

• t(7;12)(q36;p13)
  16 September 2007

  The t(7;12)(q36;p13) is a recurrent translocation involving the ETV6 (TEL) gene at 12p13 and a heterogeneous breakpoint at 7q36.
  A fusion transcript between HLXB9 and ETV6 in AML with t(7;12) is occasionally found.
  The t(7;12) is almost exclusively present in infant AML and covers 30% of infant AML, while it is extremely rare in infant ALL and older children. (#16646086#)
  The t(7;12) is associated with a poor outcome and an ectopic expression of HLXB9 is commonly involved in this (...)

• t(11;17)(q23;q12-q25)
  9 September 2007

  Tumors
  acute myeloid leukemia (AML)
  The majority of translocations that involve the long arms of chromosomes 11 and 17 in acute myeloid leukemia appear identical on the cytogenetic level but they are diverse on the molecular level. Two genes are known in 11q23 and four in 17q12-25 that generate five distinct fusion genes:
  MLL/MLLT6 (AF17)
  MLL/LASP1
  MLL/ACACA
  MLL/SEPT9 (MSF)
  ZBTB16/PLZF (RARA)
  References
  Strehl S, Konig M, Meyer C, Schneider B, Harbott J, Jager U, von Bergh (...)

• dic(17;20)
  3 September 2007

  The dic(17;20) is a recurrent unbalanced translocation occurring rarely in myelodysplastic syndromes and acute myeloid leukemia.
  References
  MacKinnon RN, Patsouris C, Chudoba I, Campbell LJ. A FISH comparison of variant derivatives of the recurrent dic(17;20) of myelodysplastic syndromes and acute myeloid leukemia: Obligatory retention of genes on 17p and 20q may explain the formation of dicentric chromosomes. Genes Chromosomes Cancer. 2007 Jan;46(1):27-36. PMID: (...)

• t(11;17)(q23;q25)
  23 July 2007

  Molecular biology
  MLL-SEPT9 gene fusion (#17250889#)
  Tumors
  acute myeloid leukemia (#20113838#)
  de novo myelodysplastic syndrome (#17250889#)
  References
  Coexistence of alternative MLL-SEPT9 fusion transcripts in an acute myeloid leukemia with t(11;17)(q23;q25). Santos J, Cerveira N, Correia C, Lisboa S, Pinheiro M, Torres L, Bizarro S, Vieira J, Viterbo L, Mariz JM, Teixeira MR. Cancer Genet Cytogenet. 2010 Feb;197(1):60-4. PMID: #20113838#
  Kreuziger LM, Porcher JC, Ketterling (...)

• t(12;22)(p13;q11)
  23 July 2007

  The translocation, t(12;22)(p13;q11) creates an ETV6/MN1 (TEL/MN1) fusion gene between ETV6 at 12p13 and MN1 at 22q12.3-qter.
  Tumors
  minimally differentiated acute myeloid leukemia (AML-M0) (#17476096#)
  See also
  chromosomal translocations
  ETSs genes
  Chen S, Xue Y, Zhu X, Wu Y, Pan J. Related Articles, Links Minimally differentiated acute myeloid leukemia with t(12;22)(p13;q11) translocation showing primary multidrug resistance and expressing multiple multidrug-resistant (...)

• t(2;11)(q37;q23)
  23 July 2007

  Translocation t(2;11)(q37;q23) is a rare recurrent cytogenetic abnormality associated with de novo and therapy-related acute myeloid leukemia. It results in a MLL-SEPT2 fusion gene.
  Molecular biology
  MLL/SEPT2 fusion gene
  References
  van Binsbergen E, de Weerdt O, Buijs A. A new subtype of MLL-SEPT2 fusion transcript in therapy-related acute myeloid leukemia with t(2;11)(q37;q23): a case report and literature review. Cancer Genet Cytogenet. 2007 Jul 1;176(1):72-5. PMID: (...)

• t(1;7)(q10;p10)
  3 July 2007

  der(1;7)(q10;p10)

• t(12;21)(p13;q22)
  26 June 2007

  The ETV6/RUNX1 fusion gene is created by the t(12;21)(p13;q22).
  The t(12;21) is known to arise in utero. The postnatal latency period is protracted and additional mutations are most likely necessary for overt ALL.
  Tumors
  B-cell precursor acute lymphoblastic leukemia (B-ALL)
  References
  Forestier E, Andersen MK, Autio K, Blennow E, Borgstrom G, Golovleva I, Heim S, Heinonen K, Hovland R, Johannsson JH, Kerndrup G, Nordgren A, Rosenquist R, Swolin B, Johansson B; Nordic Society of (...)

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