Minimally Differentiated Acute Myeloid Leukemia with t(12;22)(p13;q11) Translocation Showing Primary Multidrug Resistance and Expressing Multiple Multidrug-Resistant Proteins

Here we report a rare chromosomal translocation, t(12;22)(p13;q11), which was detected in a 53-year-old female patient diagnosed as having minimally differentiated acute myeloid leukemia (AML-M0) according to the French-American-British classification criteria. Chromosome painting analysis with probes for chromosomes 12 and 22 confirmed the result of the conventional cytogenetic analysis. Reverse transcriptase polymerase chain reaction revealed the TEL-MN1 fusion transcript. Interestingly, she presented primary multidrug resistance and did not respond to several kinds of chemotherapy regimens. Moreover, she could not achieve remission after two doses of monotherapy with Mylotarg. Flow cytometry analysis detected high levels of expression of P-glycoprotein, multidrug-resistant-related protein, lung-related protein, and glutathione S-transferase π in this case at presentation. As far as we know, this is the first report of t(12;22)(p13;q11) translocation involving TEL and MN1 genes in an AML-M0 patient.

[1]  S. Bohlander ETV6: a versatile player in leukemogenesis. , 2005, Seminars in cancer biology.

[2]  E. Zwarthoff,et al.  Expression of the MN1–TEL fusion protein in the human UCSD/AML1 leukemic cell line , 2004, Leukemia.

[3]  H. Mizoguchi,et al.  TEL/MN1 fusion in a de novo acute myeloid leukaemia‐M2 patient who showed strong resistance to treatment , 2001, British journal of haematology.

[4]  M. Boavida,et al.  TEL and MN1 Fusion In Myelodysplastic Syndrome: New Evidence For A Therapy‐Related Event , 2000, British journal of haematology.

[5]  R Berger,et al.  A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia. , 1997, Science.

[6]  P. Marynen,et al.  Fusion of TEL, the ETS-variant gene 6 (ETV6), to the receptor-associated kinase JAK2 as a result of t(9;12) in a lymphoid and t(9;15;12) in a myeloid leukemia. , 1997, Blood.

[7]  J. Rowley,et al.  A t(6;12)(q23;p13) results in the fusion of ETV6 to a novel gene, STL, in a B‐cell ALL cell line , 1997 .

[8]  P. Marynen,et al.  Fluorescence in situ hybridization analysis of t(3; 12)(q26; p13): a recurring chromosomal abnormality involving the TEL gene (ETV6) in myelodysplastic syndromes. , 1996, Blood.

[9]  E. Macintyre,et al.  High frequency of t(12;21) in childhood B-lineage acute lymphoblastic leukemia. , 1995, Blood.

[10]  P. Riegman,et al.  Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11. , 1995, Oncogene.

[11]  L. Wiedemann,et al.  The novel activation of ABL by fusion to an ets-related gene, TEL. , 1995, Cancer research.

[12]  Todd R. Golub,et al.  Fusion of PDGF receptor β to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation , 1994, Cell.

[13]  D. Harnden,et al.  Catalog of Chromosome Aberrations in Cancer , 1989 .

[14]  C. Reid,et al.  Fluorescence In Situ Hybridization Analysis of t ( 3 ; 12 ) ( q 26 ; p 13 ) : A Recurring Chromosomal Abnormality Involving the TEL Gene ( E T V 6 ) in Myelodysplastic Syndromes , 2022 .