Atlas of Genetics and Cytogenetics in Oncology and Haematology
| CASE REPORTS in
HAEMATOLOGY (Paper co-edited with the European LeukemiaNet) |
| inv(8)(p11.2q13) found in a patient with chronic myelomonocytic leukemia that progressed to acute myeloid leukemia |
| Jennifer JS Laffin, Sara J Morrison-Delap, Wayne A Bottner, Eric B Johnson, Patricia Howard-Peebles, Kate J Thompson, Gordana Raca, Karen D Montgomery, Daniel F Kurtycz |
| Clinics |
| Age and sex : | 67 year(s) old male patient. |
| Previous History : | preleukemia |
| no previous malignant disease | |
| no inborn condition of note | |
| Organomegaly : | no hepatomegaly ; splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement |
| Blood |
| WBC : 30.5 x 109/l; Hb : 13.5 g/dl; platelets : 17,000 x 109/l; blasts : 1% |
| Cyto pathology classification |
| Cytology : M4 |
| Immunophenotype : Negative for: CD34, CD2, CD3, CD19, CD20, TdT, cyto CD3, CD7 |
| Rearranged Ig Tcr : not done |
| Pathology : AML, M4 |
| Electron microscopy : not done |
| Precise diagnosis : AML, M4 |
| Survival |
| Date of diagnosis: 12-2006 |
| Treatment : Ara-C/Daunorubicin |
| Complete remission was obtained |
| Comments : ; marrow still recovering as of 02/09/07 w/ WBC 1900; ANC 670; Hg 10.0; plt 63,000; Abs Mono Count 228 |
| Relapse : + |
| Phenotype at relapse : normal karyotype 46,XY. The patient died shortly after the last cytogenetic analysis due to disease relapse. |
| Status : Dead 02-2007 |
| Survival : 2 month(s) |
| Karyotype |
| Sample : Bone Marrow ; culture time : Overnight and 24 ; banding : G-banding; 450 band level |
| Results : 46,XY,inv(8)(p11.2q13)[6]/46,XY[14] |
 |
| Partial metaphases and partial karyotypes showing the inv(8)(p11q13) |
| Comments |
| A review of the literature revealed six reports of inv(8)(p11q13) associated with AML M4 or M5 all involving female patients ages 10 months, 15, 19, 21, 29, and 56 years old (References 1-6, 8-9). This is the first report of inv(8)(p11.2q13) associated with AML M4 in a male patient and older than 56 years. The inversion causes the fusion of the MOZ gene at 8p11.2 with TIF2 at 8q13. Deguchi et al described the requirement for C2HC nucleosome recognition of MOZ and the CBP recruitment activity of TIF2 for transformation leading to leukemogenesis. The propensity of affected females requires further investigation, but may just be a bias in the literature (Reference 7). |
| Internal links |
| Atlas Card | inv(8)(p11q13) |
| Bibliography |
| Abnormalities of chromosome band 8p11 in leukemia: two clinical syndromes can be distinguished on the basis of MOZ involvement. |
| Aguiar RC, Chase A, Coulthard S, Macdonald DH, Carapeti M, Reiter A, Sohal J, Lennard A, Goldman JM, Cross NC |
| Blood. 1997 ; 90 (8) : 3130-3135. |
| PMID 9376594 |
| A novel fusion between MOZ and the nuclear receptor coactivator TIF2 in acute myeloid leukemia. |
| Carapeti M, Aguiar RC, Goldman JM, Cross NC |
| Blood. 1998 ; 91 (9) : 3127-3133. |
| PMID 9558366 |
| Two cases of inv(8)(p11q13) in AML with erythrophagocytosis: a new cytogenetic variant. |
| Coulthard S, Chase A, Orchard K, Watmore A, Vora A, Goldman JM, Swirsky DM |
| British journal of haematology. 1998 ; 100 (3) : 561-563. |
| PMID 9504640 |
| Acute mixed lineage leukemia with an inv(8)(p11q13) resulting in fusion of the genes for MOZ and TIF2. |
| Liang J, Prouty L, Williams BJ, Dayton MA, Blanchard KL |
| Blood. 1998 ; 92 (6) : 2118-2122. |
| PMID 9731070 |
| Acute myeloid leukemia with inv(8)(p11q13). |
| Panagopoulos I, Teixeira MR, Micci F, Hammerstrˆ½m J, Isaksson M, Johansson B, Mitelman F, Heim S |
| Leukemia & lymphoma. 2000 ; 39 (5-6) : 651-656. |
| PMID 11342350 |
| A further case of acute myeloid leukaemia with inv(8)(p11q13) and MOZ-TIF2 fusion. |
| Billio A, Steer EJ, Pianezze G, Svaldi M, Casin M, Amato B, Coser P, Cross NC |
| Haematologica. 2002 ; 87 (5) : page ECR15. |
| PMID 12010678 |
| MOZ-TIF2-induced acute myeloid leukemia requires the MOZ nucleosome binding motif and TIF2-mediated recruitment of CBP. |
| Deguchi K, Ayton PM, Carapeti M, Kutok JL, Snyder CS, Williams IR, Cross NC, Glass CK, Cleary ML, Gilliland DG |
| Cancer cell. 2003 ; 3 (3) : 259-271. |
| PMID 12676584 |
| Rearrangement of the MOZ gene in pediatric therapy-related myelodysplastic syndrome with a novel chromosomal translocation t(2;8)(p23;p11). |
| Imamura T, Kakazu N, Hibi S, Morimoto A, Fukushima Y, Ijuin I, Hada S, Kitabayashi I, Abe T, Imashuku S |
| Genes, chromosomes & cancer. 2003 ; 36 (4) : 413-419. |
| PMID 12619166 |
| A further case of acute myelomonocytic leukemia with inv(8) chromosomal rearrangement and MOZ-NCOA2 gene fusion. |
| Murati A, Adˆ©laˆØde J, Popovici C, Mozziconacci MJ, Arnoulet C, Lafage-Pochitaloff M, Sainty D, Birnbaum D, Chaffanet M |
| International journal of molecular medicine. 2003 ; 12 (4) : 423-428. |
| PMID 12964013 |
| inv(8)(p11q13). |
| Boyer J |
| Atlas Genet Cytogenet Oncol Haematol. 2004 ; 8 (numero 2) : 197-200. |
| Contributor(s) |
| Written | 02-2007 | Jennifer JS Laffin, Sara J Morrison-Delap, Wayne A Bottner, Eric B Johnson, Patricia Howard-Peebles, Kate J Thompson, Gordana Raca, Karen D Montgomery, Daniel F Kurtycz |
| Citation |
| This paper should be referenced as such : |
| Laffin JJS, Morrison-Delap SJ, Bottner WA, Johnson EB, Howard-Peebles P, Thompson KJ, Raca G, Montgomery KD, Kurtycz DF . inv(8)(p11.2q13) found in a patient with chronic myelomonocytic leukemia that progressed to acute myeloid leukemia. Atlas Genet Cytogenet Oncol Haematol. February 2007 . URL : http://AtlasGeneticsOncology.org/Reports/08LaffinID100027.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Sep 24 21:09:47 2008 |
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