Translocation t(11;15)(q23;q14) detected in AML at first relapse

Elvira 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)

Previous history

Preleukaemia
-
Malignant disease
+ 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.
Inborn condition
-

Clinics case report

Age
30 years
Sex
M
Liver
-
Spleen
-
Lymph nodes
-
Cns involv
-

Blood data

Wbc
93
Hb
9,8
Platelets
40
Blasts
96
Bone marrow
>90 blasts with myeloid features

Cyto path

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.

Survival data

Date diagnosis
02-2008
Treatment
VP16/ Mitoxantrone/Ara-C
Complete remission
No response
Treatment relat death
-
Relapse
-
Phenotype relapse
-
Status
A
Date last follow
09-2008
Survival
7

Karyotype

Sample
Bone marrow cells
Culture time
24 and 48 hs without stimulating agents
Banding
G
Results
46,XY,t(11;15)(q23;q14)[20]
Karyotype relapse
not applied
Mol cytogenet technics
FISH (bone marrow, LSI MLL Dual Color, Break Apart Rearrangement Probe, Vysis)
Mol cytogenet results
nuc ish(MLLx2)[100]

Other molec studies

Technics
not done

Images

Atlas Image
Partial karyotypes- G-band- showing the t(11;15)(q23;q14) as the sole anomaly
Atlas Image
Interphase FISH using MLL Dual Color, Break Apart Rearrangement probe- no MLL gene rearrangement was observed

Comments section

Comments
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.

Bibliography

Pubmed IDLast YearTitleAuthors
83896141993HRX involvement in de novo and secondary leukemias with diverse chromosome 11q23 abnormalities.Hunger SP et al
204381932010Social nesting: changes in social network and support across the transition to parenthood in couples that conceived spontaneously or through assisted reproductive technologies.Gameiro S et al
111653192001Restricted chromosome breakpoint sites on 11q22-q23.1 and 11q25 in various hematological malignancies without MLL/ALL-1 gene rearrangement.Tanaka K et al
126187662003A t(11;15) fuses MLL to two different genes, AF15q14 and a novel gene MPFYVE on chromosome 15.Chinwalla V et al
126187682003Characterization of the MLL partner gene AF15q14 involved in t(11;15)(q23;q14).Kuefer MU et al

Citation

Elvira D Rodrigues Pereira Velloso, Silvia Helena Figueiredo, Cristina A Ratis, Ana Cláudia Brito, Nydia S Bacal, Yana AS Novis, Cristóvão LP Mangueira

Translocation t(11;15)(q23;q14) detected in AML at first relapse

Atlas Genet Cytogenet Oncol Haematol. 2008-04-01

Online version: http://atlasgeneticsoncology.org/case-report/208832/translocation-t(11;15)(q23;q14)-detected-in-aml-at-first-relapse