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(Paper co-edited with the European LeukemiaNet)
A new case of Acute Myeloid Leukemia with semi-cryptic t(7;21)(p22;q22)
Written2012-04Tatiana Gindina, Ildar Barkhatov, Elmira Boychenko, Irina Garbuzova, Maria Vlasova, Elena Nikolaeva, Irina Petrova, Varvara Ovechkina, Tatiana Shorstova
I.P. Pavlov State Medical University, R.M. Gorbacheva Memorial Institute of Children Hematology and Transplantation, Cytogenetic Laboratory, Saint Petersburg, Russia (TG, IB, MV, EN, IP, VO, TS); City Children's Hospital No.1, Saint Petersburg, Russia (EB, IG)
Age and sex : 13 year(s) old male 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
WBC : 2 x 109/L (5); Hb : 11 g/dL (3); platelets : 278 x 109/L;
Bone marrow : 56 Hypocellular bone marrow, the number of blasts increased up to 56%. Blasts had round shape with a rounded nucleus and looped chromatin structure, with large blue nucleoli. The cytoplasm of blasts was blue and narrow without granularity. Part of the blasts had irregular shape with a bean-shaped nucleus and bright large nucleolus. Their cytoplasm was moderate or abundant, gray-blue with small azurophilic granules. Myelopoiesis: myeloid dysplasia, some cells have giant nuclei, scanty specific granularity, dissociation in the maturation of the nucleus and cytoplasm. Granulocytic population comprised approximately 26% of bone marrow cells. Erythropoiesis was represented by normoblasts. Megakaryocytopoiesis was decreased with hypolobular megakaryocytes.
Cyto pathology classification
Cytology : Acute myelomonocytic leukemia (AML), M4
Immunophenotype : Positive for CD45dim, CD33, CD56, CD34, CD7, CD117, CD13, CD71, HLA-DR; additionally, there is abnormal coexpression of CD4 and CD11b.
Rearranged Ig Tcr : Not performed.
Pathology : Not performed.
Electron microscopy : Not performed.
Precise diagnosis : AML M4 (FAB), AML with multilineage dysplasia (WHO).
Date of diagnosis: 12-2011
Treatment : Induction therapy included AIE (cytarabine/idarubicin/etoposide) and HAM (high-dose cytarabine 3 g/m2/mitoxantrone). Complete remission was achieved after FLAG regimen (fludarabine, cytarabine, granulocyte-colony-stimulating factor) applied as consolidation therapy.
Complete remission was obtained
Comments : Complete hematological and cytogenetic remissions were achieved in April 2012.
Treatment related death : -
Relapse : -
Status : Alive 04-2012
Survival : 5 month(s)
Sample : Bone marrow aspirate. ; culture time : 24 h, , without stimulating agents. ; banding : GTG
Results : Analysis of 20 metaphase cells revealed an abnormal male karyotype. 46,XY,add(21)(q22)[19]/46,XY,idem,del(5)(q13q31)[1].
Other molecular cytogenetics technics : Multicolour fluorescence in situ hybridisation (mFISH) using the 24XCyte Human Multicolor FISH Probe kit (MetaSystems, Germany) and FISH with LSI ETV6(TEL)/RUNX1 (AML1) Dual Color Translocation Probe Set (Abbott Molecular, USA) were performed.
Other molecular cytogenetics results : The semi-cryptic translocation t(7;21) was revealed in all metaphases and split of the RUNX1 gene was detected in the interphase nuclei (three red signals). 46,XY,t(7;21)(p22;q22)[20].ish t(7;21)(RUNX1+;RUNX1+)[20].
Other molecular studies
technics : ASO-PCR, RFLP.
results : Mutations in NPM1 and FLT3 genes (ITD&D835) were not detected.
G-banded and partial mFISH karyograms showing t(7;21).
Interphase FISH with three signals of RUNX1 (red) and two signals of ETV6 (green) genes.
FISH with LSI ETV6/RUNX1 probe showing the red signals of RUNX1 on der(7) chromosome, der(21) chromosome and on normal chromosome 21. Two normal signals (green) of ETV6 are seen on the chromosomes 12.
Here, we report a new case of AML M4 with semi-cryptic t(7;21)(p22;q22). As known the translocation t(7;21)(p22;q22) is a rare recurrent abnormality in MDS and AML that results in a RUNX1-USP42 fusion as described previously (Paulsson et al., 2006). Although all four patients with t(7;21) revealed a similar cytogenetic lesion, they varied in their clinicopathological features: of the three adults, the first one presented with RAEB-2, the second AML M5, the third AML M0 and the 7-year-old child had AML M0 too. All adults had chemosensitive disease, whereas the child had refractory AML following initial induction therapy and relapsed following allogeneic bone marrow transplantation. Current case of 13-year-old boy diagnosed with acute myelomonocytic leukemia also had evidence of persistent AML after initial course of treatment; he achieved complete hematological and cytogenetic remissions after FLAG.
Call for collaboration
MD, PhD Tatiana Gindina
Cytogenetic Laboratory, R.M. Gorbacheva Memorial Institute of Children Hematology and Transplantation, I.P. Pavlov State Medical University, Saint-Petersburg, Russia, Leo Tolstoi Str., 6/8, 197022
Telephone: + 7 (812) 233 12 43
Fax: + 7 (812) 233 96 01
Internal links
Atlas Cardt(7;21)(p22;q22)
A novel and cytogenetically cryptic t(7;21)(p22;q22) in acute myeloid leukemia results in fusion of RUNX1 with the ubiquitin-specific protease gene USP42.
Paulsson K, Bekassy AN, Olofsson T, Mitelman F, Johansson B, Panagopoulos I.
Leukemia. 2006 Feb;20(2):224-9.
PMID 16357831
Molecular characterisation of a recurrent, semi-cryptic RUNX1 translocation t(7;21) in myelodysplastic syndrome and acute myeloid leukaemia.
Foster N, Paulsson K, Sales M, Cunningham J, Groves M, O'Connor N, Begum S, Stubbs T, McMullan DJ, Griffiths M, Pratt N, Tauro S.
Br J Haematol. 2010 Mar;148(6):938-43. Epub 2010 Jan 11.
PMID 20064152
Microhomologies and topoisomerase II consensus sequences identified near the breakpoint junctions of the recurrent t(7;21)(p22;q22) translocation in acute myeloid leukemia.
Giguere A, Hebert J.
Genes Chromosomes Cancer. 2011 Apr;50(4):228-38. doi: 10.1002/gcc.20848. Epub 2011 Jan 14.
PMID 21319259


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