Atlas of Genetics and Cytogenetics in Oncology and Haematology
| CASE REPORTS in
HAEMATOLOGY (Paper co-edited with the European LeukemiaNet) |
| t(17;21)(q11.2;q22) as a sole aberration in acute myelomonocytic leukemia |
| Clinics |
| Age and sex : | 87 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 |
| Blood |
| WBC : 30,6 x 109/l; Hb : 99 g/dl; platelets : 71 x 109/l; blasts : 3% |
| Bone marrow : 28% (of blasts) (Hypercellular; 28% of blasts; 20% of monocytic lineage, dispoiesis in megakariocytic lineage and diserithropoiesis) |
| Cyto pathology classification |
| Cytology : Acute myelomonocytic leukemia |
| Immunophenotype : CD4-/CD11c+/CD13+/CD14+/CD15+/CD33+/CD34+↓/CD45+/ CD64+/CD65+/MPO+↓ |
| Rearranged Ig Tcr : - |
| Pathology : Not done |
| Electron microscopy : Not done |
| Precise diagnosis : Acute myelomonocytic leukemia |
| Survival |
| Date of diagnosis: 04-2011 |
| Treatment : Symptomatic (antibiotics) |
| Complete remission : None |
| Treatment related death : - |
| Relapse : - |
| Status : Dead 04-2011 |
| Survival : 1 month(s) |
| Karyotype |
| Sample : Bone marrow ; culture time : 24 h ; banding : GTG |
| Results : 46,XY,t(17;21)(q11.2;q22)[19]/46,XY[1] |
| Other molecular cytogenetics technics : FISH; LSI RUNX1/RUNX1T1, LSI MLL (Abbott); WC 17, 21 (Kreatech) |
| Other molecular cytogenetics results : nuc ish(RUNX1T1x2,RUNX1x3)[130/200]; ish t(17;21)(WCP17+,WCP21+;WCP17+,WCP21+) |
| Other molecular studies |
| technics : PCR |
| results : FLT3-ITD - negative; NPM1 mutation - negative. |
 |
| Figure 1. Partial Karyograme with a balanced translocation t(17;21)(q11.2;q22). |
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| Figure 2. GTG banded metaphase chromosomes. |
 |
| Figure 3. FISH on previously GTG banded chromosomes (Fig. 2). WC 17 (aqua) and WC 21 (red) (Kreatech). |
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| Figure 4. Metaphase FISH by LSI AML1(RUNX1)/ETO(RUNX1T1) DNA probe (Abbott) with split signal for RUNX1 (green). On GTG banded metaphase normal 21 with the strong RUNX1 signal and both derivatives with split RUNX1 signals are indicated. |
| Comments |
| We report the first case of t(17;21)(q11.2;q22) as the sole anomaly in AML. This rare recurrent abnormality has been linked to treatment related leukemia or MDS although it has been also found in de novo leukemia (Roulston et al., 1998; Nadal et al., 2008). Our patient had no previous history of cancer or preleukemia. Cytomorphology of bone marrow cells was, however consistent with dysplastic changes typical for s-AML. FISH analysis with probe specific for RUNX1 has been done in two previous cases with t(17;21)(q11.2;q22). While in one patient RUNX1 has been lost (Nadal et al., 2008) our result corresponds to the case of Roulston et al. (Roulston et al., 1998) where signals from RUNX1 were split by the translocation. Due to his age and poor physical condition our patient was not treated by intensive chemotherapy and he died within a month from diagnosis. |
| Internal links |
| Atlas Card | t(17;21)(q11.2;q22) |
| Bibliography |
| CBFA2(AML1) translocations with novel partner chromosomes in myeloid leukemias: association with prior therapy. |
| Roulston D, Espinosa R 3rd, Nucifora G, Larson RA, Le Beau MM, Rowley JD. |
| Blood. 1998 Oct 15;92(8):2879-85. |
| PMID 9763573 |
| Analysis of translocations that involve the NUP98 gene in patients with 11p15 chromosomal rearrangements. |
| Kobzev YN, Martinez-Climent J, Lee S, Chen J, Rowley JD. |
| Genes Chromosomes Cancer. 2004 Dec;41(4):339-52. |
| PMID 15390187 |
| RUNX1 rearrangements in acute myeloblastic leukemia relapsing after hematopoietic stem cell transplantation. |
| Nadal N, Stephan JL, Cornillon J, Guyotat D, Flandrin P, Campos L. |
| Cancer Genet Cytogenet. 2008 Jan 15;180(2):168-9. |
| PMID 18206548 |
| Contributor(s) |
| Written | 02-2012 | Helena Podgornik, Peter Cernelc |
| University medical center Ljubljana, Department of Haematology, Zaloska 7, 1000 Ljubljana, Slovenia |
| Citation |
| This paper should be referenced as such : |
| Podgornik H, Cernelc P . . Atlas Genet Cytogenet Oncol Haematol. February 2012 . URL : http://AtlasGeneticsOncology.org/Genes/t1721q11q22PodgornikID100063.html |
This paper is referenced by INIST as such : |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Mar 9 12:39:55 CET 2013 |
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