Bottner, Wayne A.

Howard-Peebles, Patricia

Johnson, Eric B.

Kurtycz, Daniel F.

Laffin, Jennifer J.S.

Montgomery, Karen D.

Morrison-Delap, Sara J.

Raca, Gordana

Thompson, Kate J.

Atlas of Genetics and Cytogenetics in Oncology and Haematology

I-Revues

  
 
 
 
 
Case Report Section 
Paper co-edited with the European LeukemiaNet 
 
Atlas Genet Cytogenet Oncol Haematol. 2007;11(4)  363 
Atlas of Genetics and Cytogenetics 
in Oncology and Haematology                         
                         OPEN ACCESS JOURNAL AT INIST-CNRS 
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 
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) 
Published in Atlas Database: February 2007 
Online updated version: http://AtlasGeneticsOncology.org/Reports/08LaffinID100027.html  
DOI: 10.4267/2042/15948 
This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence. 
© 2007 Atlas of Genetics and Cytogenetics in Oncology and Haematology 
 
Clinics 
Age and sex: 67 years old male patient. 
Organomegaly : no hepatomegaly ; splenomegaly ; no 
enlarged lymph nodes ; no central nervous system 
involvement. 
Previous history: 67 year old man with normal CBC 
until 02.23.1993, when first noted to have monocytosis 
(wbc 6900; mono 17%; Absolute Mono Count (AMC) 
1173/mm3), mild anemia (Hgb 13.4/ nl 13.6-16.7) and 
thrombocytopenia (121,000/nl 150-400,000). 
Otherwise clinically well. No significant other medical 
history. CMML by marrow biopsy 12/2001 (WBC 
15,300; Hg 13.0; plt 65,000; AMC 3060/mm3). Initial 
cytogenetic analysis was normal, 46,XY. No treatment 
for 5 years because of stable counts and no symptoms. 
He presented with fatigue and purpura December 2006 
(see description below)  
Blood 
WBC: 30.5 x 109/l; Hb: 13.5 g/dl; platelets: 17,000 x 
109/l; blasts: 1%. 
Bone marrow: AML, M4; 80% monocytoid blasts. 
Cytopathology classification 
Cytology: M4. 
Immunophenotype: Positive for: CD33, CD13, HLA-
DR, CD64, CD16, CD14, CD56 (partial), MPO, CD45 
Negative for: CD34, CD2, CD3, CD19, CD20, TdT, 
cyto CD3, CD7. 
Rearranged Ig or 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: 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 months 
Karyotype 
Sample: Bone Marrow; Culture time: Overnight and 
24h; Banding: G-banding; 450 band level. 
Results: 46,XY,inv(8)(p11.2q13)[6]/46,XY[14] 
inv(8)(p11.2q13) found in a patient with chronic myelomonocytic leukemia that progressed to acute myeloid leukemia Laffin JJS et al. 
 
 
 
 
 
Atlas Genet Cytogenet Oncol Haematol. 2007;11(4)  364 
 
 
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). 
References 
Aguiar RC, Chase A, Coulthard S, Macdonald DH, Carapeti M, 
Reiter A, Sohal J, Lennard A, Goldman JM, Cross NC. 
Abnormalities of chromosome band 8p11 in leukemia: two 
clinical syndromes can be distinguished on the basis of MOZ 
involvement. Blood 1997;90(8):3130-3135. 
Carapeti M, Aguiar RC, Goldman JM, Cross NC. A novel 
fusion between MOZ and the nuclear receptor coactivator TIF2 
in acute myeloid leukemia. Blood 1998;91(9):3127-3133. 
Coulthard S, Chase A, Orchard K, Watmore A, Vora A, 
Goldman JM, Swirsky DM. Two cases of inv(8)(p11q13) in 
AML with erythrophagocytosis: a new cytogenetic variant. Br J 
Haematol 1998;100(3):561-563. 
Liang J, Prouty L, Williams BJ, Dayton MA, Blanchard KL. 
Acute mixed lineage leukemia with an inv(8)(p11q13) resulting 
in fusion of the genes for MOZ and TIF2. Blood 
1998;92(6):2118-2122. 
Panagopoulos I, Teixeira MR, Micci F, HammerstrÂ¯ m J, 
Isaksson M, Johansson B, Mitelman F, Heim S. Acute myeloid 
leukemia with inv(8)(p11q13). Leuk Lymphoma 2000;39(5-
6):651-656. 
Billio A, Steer EJ, Pianezze G, Svaldi M, Casin M, Amato B, 
Coser P, Cross NC. A further case of acute myeloid leukaemia 
with inv(8)(p11q13) and MOZ-TIF2 fusion. Haematologica 
2002;87(5):ECR15. 
Deguchi K, Ayton PM, Carapeti M, Kutok JL, Snyder CS, 
Williams IR, Cross NC, Glass CK, Cleary ML, Gilliland DG. 
MOZ-TIF2-induced acute myeloid leukemia requires the MOZ 
nucleosome binding motif and TIF2-mediated recruitment of 
CBP. Cancer Cell 2003;3(3):259-271. 
Imamura T, Kakazu N, Hibi S, Morimoto A, Fukushima Y, Ijuin 
I, Hada S, Kitabayashi I, Abe T, Imashuku S. Rearrangement 
of the MOZ gene in pediatric therapy-related myelodysplastic 
syndrome with a novel chromosomal translocation 
t(2;8)(p23;p11). Genes Chromosomes Cancer 2003;36(4):413-
419. 
Murati A, Adelaide J, Popovici C, Mozziconacci MJ, Arnoulet 
C, Lafage-Pochitaloff M, Sainty D, Birnbaum D, Chaffanet M. A 
further case of acute myelomonocytic leukemia with inv(8) 
chromosomal rearrangement and MOZ-NCOA2 gene fusion. 
Int J Mol Med 2003;12(4):423-428. 
Boyer J. inv(8)(p11q13). Atlas Genet Cytogenet Oncol 
Haematol 2004;8(2). 
This article 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.2007;11(4):363-364. 
 
 


inv(8)(p11.2q13) found in a patient with chronic myelomonocytic leukemia that progressed to acute myeloid leukemia

inv(8)(p11.2q13) found in a patient with chronic myelomonocytic leukemia that progressed to acute myeloid leukemia

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