Atlas of Genetics and Cytogenetics in Oncology and Haematology
| CASE REPORTS in
HAEMATOLOGY (Paper co-edited with the European LeukemiaNet) |
| t(1;21)(p32;q22) as a non-random abnormality in AML M4 |
| Clinics |
| Age and sex : | 63 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 : 3.980 x 109/l; Hb : 7.9 g/dl; platelets : 64.000 x 109/l; blasts : 48,5% |
| Cyto pathology classification |
| Cytology : (FAB) AML M4. |
| Immunophenotype : Hypercellular bone marrow showed a myelomonocytic blast population. 49.5% blasts were detected in total bone marrow. 30% of the cells were clearly EST positive. Futhermore POX was positive, no ringsiderobalsts were found and erythropoiesis showed dysplasia. Myelomonocytic cells with MPO+ (48%), CD13+ (17%), CD33+ (63%), CD14 (19%) and CD64 (37%). |
| Precise diagnosis : AML M4 |
| Survival |
| Date of diagnosis: 06-2008 |
| Treatment : None |
| Complete remission : None |
| Treatment related death : - |
| Relapse : - |
| Status : Lost |
| Karyotype |
| Sample : bone marrow ; culture time : 24 - 48 h ; banding : GAG. |
| Results : 46,XX,t(1;21)(p32;q22)[15/15]. |
| Other molecular cytogenetics technics : FISH with commercial AML1 probe (Abbott) and whole chromosome painting with WCP#1 and WCP#21 (MetaSystems). |
| Other molecular cytogenetics results : 40% of cells with AML1-split. |
| Other molecular studies |
| technics : PCR |
| results : Tandem duplication of MLL gene (MLL-PTD positive). |
 |
| Partial GTG-banding karyotype showing t(1;21)(p32;q22). |
 |
| FISH and whole chromosome painting of the same metaphase with t(1;21)(p32;q22); Left picture: AML1 probe on metaphase; Right picture: whole chromosome painting, WCP#1 green, WCP#21 red. |
| Comments |
| Only two cases with t(1;21)(p32;q22) were described so far in literature. The first reported case is a 25-year-old male with an acute myelomonoblastic leukemia (M4 by FAB subtype) (Cherry et al., 2001). The second patient, a 29-year-old Japanese male, showed a acute myelogenous leukemia M4 with NUP98-HOXA9 fusion detected by PCR at the initial diagnosis. In relapse he acquired additional to the NUP98-HOXA9 fusion a t(1;22)(p32;q22) (Aoki et al., 2008). The here reported case is a 63-year-old female with an acute myeloid leukemia (M4 by FAB subtype). So far the cases have the same morphology in common. Correlations to age or sex cannot be determined yet. |
| Call for collaboration |
| Lena Reindl MLL, Munich Leukemia Laboratory, Max-Lebsche-Platz 31, Germany lena.reindl@mll-online.com |
| Internal links |
| Atlas Card | t(1;21)(p32;q22) |
| Bibliography |
| A unique AML1 (CBF2A) rearrangement, t(1;21)(p32;q22), observed in a patient with acute myelomonocytic leukemia. |
| Cherry AM, Bangs CD, Jones P, Hall S, Natkunam Y. |
| Cancer Genet Cytogenet. 2001 Sep;129(2):155-60. |
| PMID 11566347 |
| Human homeobox gene HOXC13 is the partner of NUP98 in adult acute myeloid leukemia with t(11;12)(p15;q13). |
| La Starza R, Trubia M, Crescenzi B, Matteucci C, Negrini M, Martelli MF, Pelicci PG, Mecucci C. |
| Genes Chromosomes Cancer. 2003 Apr;36(4):420-3. |
| PMID 12619167 |
| A de novo AML with a t(1;21)(p36;q22) in an elderly patient. |
| Dal Cin P, Yee AJ, Dey B. |
| Atlas Genet Cytogenet Oncol Haematol. March 2007 URL : http://AtlasGeneticsOncology.org/Reports/0121DalCinID100021.html . |
| Additional acquisition of t(1;21)(p32;q22) in a patient relapsing with acute myelogenous leukemia with NUP98-HOXA9. |
| Aoki T, Miyamoto T, Yoshida S, Yamamoto A, Yamauchi T, Yoshimoto G, Mori Y, Kamezaki K, Iwasaki H, Takenaka K, Harada N, Nagafuji K, Teshima T, Akashi K. |
| Int J Hematol. 2008 Dec;88(5):571-4. Epub 2008 Nov 13. |
| PMID 19005624 |
| Contributor(s) |
| Written | 08-2009 | Lena Reindl, Claudia Haferlach |
| MLL, Munich Leukemia Laboratory, Max-Lebsche-Platz 31, Germany |
| Citation |
| This paper should be referenced as such : |
| Reindl L, Haferlach C . . Atlas Genet Cytogenet Oncol Haematol. August 2009 . URL : http://AtlasGeneticsOncology.org/Genes/0121ReindlID100041.html |
This paper is referenced by INIST as such : |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Mar 9 12:39:46 CET 2013 |
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