Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals   Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA


do you wish to send a case report ?


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
 
Written2012-02Helena Podgornik, Peter Cernelc
University medical center Ljubljana, Department of Haematology, Zaloska 7, 1000 Ljubljana, Slovenia
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 x 109/L (6); 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).
Figure 2. GTG banded metaphase chromosomes.
Figure 3. FISH on previously GTG banded chromosomes (Fig. 2). WC 17 (aqua) and WC 21 (red) (Kreatech).
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 Cardt(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
 

Citation

This paper should be referenced as such :
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Reports/t1721q11q22PodgornikID100063.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu May 4 17:26:57 CEST 2017


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals   Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.