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(Paper co-edited with the European LeukemiaNet)
Translocation t(11;15)(q23;q14) detected in AML at first relapse
Written2008-04Elvira D Rodrigues Pereira Velloso, Silvia Helena Figueiredo, Cristina A Ratis, Ana Cláudia Brito, Nydia S Bacal, Yana AS Novis, Cristóvão LP Mangueira
Laboratorio clinico Hospital Israelita Albert Einstein, Av. Albert Einstein, 627/701 - Morumbi - Sao Paulo, Brazil (EDRPV, SHF, CAR, ACB, NSB, CLPM); Hospital Sirio Libanes, Sao Paulo, Brazil (YASN)
Age and sex : 30 year(s) old male patient.
Previous History : no preleukemia
17 months before (September, 2006) an AML-M6 "de novo" (FAB) was diagnosed. Immunophenotype study showed expression of CD117,CD34, HLA-DR, CD33, CD13, CD71, CD38, CD36 and CD11c, Bone Marrow karyotype showed clonal trisomy 21 (47,XY,+21[2]/46,XY[13]). The treatment included chemotherapy induction cycle with Idarrubicin and Ara-C (3+7) and consolidation with HDDAC. In April, 2007 a hematologic and immunophenotypic remission was observed, although a karyotype showed one methaphase with trisomies 13 and 21 (48,XY,+13,+21[1]/46,XY[19]. In October, 2007, cytometry and cytogenetic bone marrow studies showed complete remission.
no inborn condition of note
Organomegaly : no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement
WBC : 93 x 109/L ; Hb : 9 g/dL (8); platelets : 40 x 109/L; blasts : 96 % .
Bone marrow : >90 blasts with myeloid features
Cyto pathology classification
Cytology : AML-M1
Immunophenotype : CD 45+ gate: CD117, CD34, HLA-DR, CD33, CD13, CD71, CD38, CD36, CD11c and cMPO.
Rearranged Ig Tcr : not done
Pathology : not done
Electron microscopy : not done
Precise diagnosis : AML in first relapse.
Date of diagnosis: 02-2008
Treatment : VP16/ Mitoxantrone/Ara-C
Complete remission : None
Treatment related death : -
Relapse : -
Phenotype at relapse : -
Status : Alive 09-2008
Survival : 7 month(s)
Sample : Bone marrow cells ; culture time : 24 h, and 48 hs without stimulating agents ; banding : G
Results : 46,XY,t(11;15)(q23;q14)[20]
Karyotype at relapse : not applied
Other molecular cytogenetics technics : FISH (bone marrow, LSI MLL Dual Color, Break Apart Rearrangement Probe, Vysis)
Other molecular cytogenetics results : nuc ish(MLLx2)[100]
Other molecular studies
technics : not done
Partial karyotypes- G-band- showing the t(11;15)(q23;q14) as the sole anomaly
Interphase FISH using MLL Dual Color, Break Apart Rearrangement probe- no MLL gene rearrangement was observed
Translocation t(11;15)(q23;q14) have been described in few cases of acute leukemia, including ALL2 and AML 1,3,4,7. Although rare, molecular studies have demonstrated the diversity of this cytogenetic abnormality, and MLL gene rearrangement could be or not detected 2,5. When it is present, two different genes could be fused to MLL (AF15q14 and MPFVE) 6,7.
We described herein a t(11;15)(q23;q14) without MLL rearrangement in AML at first relapse. As this translocation was not detected at diagnosis, we could not discard the implication of previous chemotherapy in this cytogenetic abnormality.
Internal links
Atlas Cardt(11;15)(q23;q14)
HRX involvement in de novo and secondary leukemias with diverse chromosome 11q23 abnormalities.
Hunger SP, Tkachuk DC, Amylon MD, Link MP, Carroll AJ, Welborn JL, Willman CL, Cleary ML.
Blood. 1993; 81: 3197-203.
PMID 8389614
Frequency and prognostic significance of HRX rearrangements in infant acute lymphoblastic leukemia: a Pediatric Oncology Group study.
Rubnitz JE, Link MP, Shuster JJ, Carroll AJ, Hakami N, Frankel LS, Pullen DJ, Cleary ML.
Blood 1994; 84: 570-573.
PMID 94297229
Translocation (11;15)(q23;q14) in three patients with acute non-lymphoblastic leukemia (ANLL): clinical, cytogenetic and molecular studies.
Hernandez JM, Mecucci C, Beverloo HB, Selleri L, Wlodarska I, Stul M, Michaux L, Verhoef G, Van Orshoven A, Cassiman JJ, et al.
Leukemia 1995; 9: 1162-1166.
PMID 95356566
AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14).
Hayette S, Tigaud I, Vanier A, Martel S, Corbo L, Charrin C, Beillard E, Deleage G, Magaud JP, Rimokh R.
Oncogene 2000; 19: 4446-4450.
PMID 20438193
Restricted chromosome breakpoint sites on 11q22-q23.1 and 11q25 in various hematological malignancies without MLL/ALL-1 gene rearrangement.
Tanaka K, Eguchi M, Eguchi-Ishimae M, Hasegawa A, Ohgami A, Kikuchi M, Kyo T, Asaoku H, Dohy H, Kamada N.
Cancer Genet Cytogenet. 2001 Jan 1;124(1):27-35.
PMID 11165319
A t(11;15) fuses MLL to two different genes, AF15q14 and a novel gene MPFYVE on chromosome 15.
Chinwalla V, Chien A, Odero M, Neilly MB, Zeleznik-Le NJ, Rowley JD.
Oncogene. 2003 Mar 6; 22: 1400-10.
PMID 12618766
Characterization of the MLL partner gene AF15q14 involved in t(11;15)(q23;q14).
Kuefer MU, Chinwalla V, Zeleznik-Le NJ, Behm FG, Naeve CW, Rakestraw KM, Mukatira ST, Raimondi SC, Morris SW.
Oncogene. 2003 Mar 6; 22: 1418-24.
PMID 12618768


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