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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
 
Written2007-02Jennifer 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
University of Wisconsin-Madison, School of Medicine and Public Health, Department of Pediatrics, University of Wisconsin Cytogenetic Services, Wisconsin State Laboratory of Hygiene, Madison, WI, USA (JJSL); University of Wisconsin Cytogenetic Services, Wisconsin State Laboratory of Hygiene, Madison, WI, USA (SJMD) (EBJ) (KJT); Gundersen Lutheran Medical Center, La Crosse, WI, USA (WAB); University of Wisconsin-Madison, School of Medicine and Public Health, Department of Pathology and Laboratory Medicine, University of Wisconsin Cytogenetic Services, Wisconsin State Laboratory of Hygiene, Madison, WI, USA (PHP) (GR) (KDM) (DFK)
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 x 109/L; blasts : 1 % .
Bone marrow : AML, M4; 80% monocytoid blasts.
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 Cardinv(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, Hammerstr&oring;m 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, Adélaïde 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.
 

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. in press
On line version : http://AtlasGeneticsOncology.org/Reports/08LaffinID100027.html

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