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CASE REPORTS in HAEMATOLOGY
(Paper co-edited with the European LeukemiaNet)
Trisomy 16 and 18 in acute lymphoblastic leukemia patient with ETV6-RUNX1 rearrangement
 
Written2011-03Adriana Zamecnikova
Kuwait Cancer Control Center, Dep of Hematology, Laboratory of Cancer Genetics, Kuwait
Clinics
Age and sex : 3 year(s) old female patient.
Previous History : no preleukemia
no previous malignant disease
no inborn condition of note
Organomegaly : no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement
Blood
WBC : 3.2 x 109/L ; Hb : 9.8 g/dL ; platelets : 52 x 109/L; blasts : 29 % (Neutrohils 8 Lymphocytes 61% Eosinophils 2% atypical lymphocytes 29%).
Bone marrow : Hypercellular, with 70% lymphoblasts replacing normal marrow elements
Cyto pathology classification
Cytology : ALL
Immunophenotype : Positive for CD10 (90%), CD19 (81%), CD22 (81 %), 13 (61%), 33 (82%), 79a (38%), 34 (82%), HLDR (90%) and TdT (56%)
Precise diagnosis : B-lineage ALL
Survival
Date of diagnosis: 01-2011
Karyotype
Sample : Bone marrow ; culture time : 24 h ; banding : G-band
Results : 48,XX,+16,+18
Other molecular cytogenetics technics : Fluorescence in situ hybridization with LSI TEL-AML1 (ETV6-RUNX1), LSI IGH/BCL2 and LSI CBFB probes
Other molecular cytogenetics results : Applying the LSI TEL-AML1 probe on bone marrow cells we detected in 70% of cells fusion signal for TEL-AML1. Applying the LSI IGH/BCL2 and LSI CBFB probes on metaphases we detected 3 copies for BCL2 and CBFB confirming the presence of extra chromosomes 16 and 18.
Other molecular studies
technics : RT-PCR for TEL-AML1
results : Positive
Karyotype of the patient showing the presence of extra chromosomes 16 and 18 (A). Fluorescence in situ hybridization studies with LSI IGH/BCL2 and CBFB probes showing the presence of 3 copies of BCL2 and CBFB probes on chromosomes 16 and 18 (B). Hybridization with LSI TEL-AML1 (ETV6-RUNX1) probe showing the fusion signals on interphase cells (C).
Comments
Current evidence suggests that in childhood acute lymphoblastic leukemia (ALL) with t(12;21), while the translocation may initiate the leukemic process, secondary genetic events are believed to be pivotal in disease promotion. We report a case of a patient displaying trisomy 16 and 18 as the sole cytogenetic anomaly detected by karyotyping. The patient, a previously healthy 3 years old female presented with fever and pancytopenia. Immunophenotyping showed B-lineage ALL, with aberrant expression of myeloid markers. Chromosome analysis performed at diagnosis revealed extra copies of chromosomes 16 and 18 in all the 20 examined metaphases. Fluorescence in situ studies revealed ETV6-RUNX1 fusion signal in 70% of cells and the rearrangement was confirmed by reverse-transcriptase polymerase chain reaction. While extra copies of chromosomes 16 and 18 may be observed in pediatric ALL patients with hyperdiploid karyotypes suggesting that they may exists as an evolutionary change, isolated trisomy 16 or 18 have been reported only rarely. A case similar to ours was previously reported in a child cytogenetically characterized by an isolated trisomy 16 and ETV6-RUNX1 fusion. Our case together with the previously reported case of B-cell ALL with ETV6-RUNX1 rearrangement suggests that trisomy of chromosome 16 and is an important additional or secondary genetic event in childhood ALL with ETV6-RUNX1 fusion. In addition, several cases of pediatric ALL with isolated trisomy 16 or 18 were reported potentially harboring the ETV6-RUNX1 rearrangement. As the translocation t(12;21) usually escapes diagnosis on conventional karyotyping, our case further reinforces the importance of fluorescence in situ hybridization studies in pediatric leukemias to reveal cryptic genomic rearrangements in addition to visible cytogenetic changes.
Internal links
Atlas Card+16 or trisomy 16 (solely)
Atlas Card+18 or trisomy 18 in lymphoproliferative disorders
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