Translocation t(5;17)(q13;q21) as the sole cytogenetic anomaly in acute myeloid leukemia after chemotherapy and allogeneic bone marrow transplantation for AML-M4: a case report

Elvira D Rodrigues Pereira Velloso, Cristina A Ratis, Edi Cabral, Denize Gonsalez, Nydia S Bacal, Cristóvão LP Mangueira  

Clinical Laboratory, Hospital Israelita Albert Einstein, São Paulo, Brazil (EDRPV, CAR, NSB, CLPM); Hospital Santa Cruz, São Paulo, Brazil (ED, DG)

Previous history

Preleukaemia
-
Malignant disease
+ AML in April, 2005, characterized as AML-M4 (FAB classification), BM cytogenetics with no clonal anomaly (46,XX[12]), immunophenotyping of blast cells showed positivity for CD34, HLA-DR,CD117, cMPO, CD33, CD13, CD4, CD15, CD64 and CD71. The patient was treated with Idarubicin for 3 days, and Ara-C for 7 days, with complete remission. Consolidation chemotherapy with HDARA-C was done. In September, 2005 a full-matched related bone marrow transplantation was performed, from her brother. Karyotypes performed in April and September, 2006 and September, 2007 showed a complete chimerism (//46,XY[20]).
Inborn condition
-

Clinics case report

Age
40 yrs
Sex
F
Liver
-
Spleen
-
Lymph nodes
-
Cns involv
-

Blood data

Wbc
312
Hb
8,7
Platelets
27
Blasts
98
Bone marrow
90% myeloid/monocytic blast cells

Cyto path

Cytology
AML-M4
Immunophenotype
blast cells positivity for: CD34, HLA-DR,CD117, cMPO, CD33, CD13, CD4, CD15, CD64 and CD71.
Rearranged ig tcr
not done
Pathology
not done
Electron microscopy
not done
Precise diagnosis
AML-M4 in first relapse after allogeneic BMT.

Survival data

Date diagnosis
01-2008
Treatment
Idarubicin + ARA-C (I3A7)
Complete remission
-
Treatment relat death
+
Relapse
-
Status
D
Date last follow
02-2008
Survival
1,5

Karyotype

Sample
Bone Marrow
Culture time
24 and 48- hours without stimulating agents
Banding
G- band
Results
46,XX, (5;17)(q13;q21)[20]//
Karyotype relapse
not applied
Mol cytogenet technics
not done

Other molec studies

Technics
not done

Images

Atlas Image
t(5;17)(q13;q21) (G- banding)

Comments section

Comments
The present case was the first that described the t(5;17) as a sole cytogenetic anomaly in AML. Unfortunately we could not review the first karyotype to see if there was a small clone with translocation, but the finding of the same phenotype at diagnosis and relapse suggests that this could be a primary event in this leukemia. More than this, this could be a very interesting rearrangement to study, as it was found in T-ALL, BAL and AML.

Bibliography

Pubmed IDLast YearTitleAuthors
75645261995Proposals for the immunological classification of acute leukemias. European Group for the Immunological Characterization of Leukemias (EGIL).Bene MC et al
8580796199517p anomalies in lymphoid malignancies: diagnostic and prognostic implications.Schoch C et al
118013182002Translocation (5;17)(q13;q21) in a case with precursor T-lymphoblastic lymphoma/leukemia.Zamora L et al

Citation

Elvira D Rodrigues Pereira Velloso, Cristina A Ratis, Edi Cabral, Denize Gonsalez, Nydia S Bacal, Cristóvão LP Mangueira

Translocation t(5;17)(q13;q21) as the sole cytogenetic anomaly in acute myeloid leukemia after chemotherapy and allogeneic bone marrow transplantation for AML-M4: a case report

Atlas Genet Cytogenet Oncol Haematol. 2008-08-01

Online version: http://atlasgeneticsoncology.org/case-report/208837/translocation-t(5;17)(q13;q21)-as-the-sole-cytogenetic-anomaly-in-acute-myeloid-leukemia-after-chemotherapy-and-allogeneic-bone-marrow-transplantation-for-aml-m4-a-case-report