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)

Previous history

Preleukaemia
+
Malignant disease
-
Inborn condition
-
Main items
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)

Clinics case report

Age
67 yrs
Sex
M
Liver
-
Spleen
+
Lymph nodes
-
Cns involv
-

Blood data

Wbc
30.5
Hb
13.5
Platelets
17
Blasts
1
Bone marrow
AML, M4; 80% monocytoid blasts.

Cyto path

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 data

Date diagnosis
12-2006
Treatment
Ara-C/Daunorubicin
Complete remission
+; 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 relapse
normal karyotype 46,XY. The patient died shortly after the last cytogenetic analysis due to disease relapse.
Status
D
Date last follow
02-2007
Survival
2

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]

Images

Atlas Image
Partial metaphases and partial karyotypes showing the inv(8)(p11q13)

Comments section

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).

Article Bibliography

Pubmed IDLast YearTitleAuthors
93765941997Abnormalities of chromosome band 8p11 in leukemia: two clinical syndromes can be distinguished on the basis of MOZ involvement.Aguiar RC et al
95583661998A novel fusion between MOZ and the nuclear receptor coactivator TIF2 in acute myeloid leukemia.Carapeti M et al
95046401998Two cases of inv(8)(p11q13) in AML with erythrophagocytosis: a new cytogenetic variant.Coulthard S et al
97310701998Acute mixed lineage leukemia with an inv(8)(p11q13) resulting in fusion of the genes for MOZ and TIF2.Liang J et al
113423502000Acute myeloid leukemia with inv(8)(p11q13).Panagopoulos I et al
120106782002A further case of acute myeloid leukaemia with inv(8)(p11q13) and MOZ-TIF2 fusion.Billio A et al
126765842003MOZ-TIF2-induced acute myeloid leukemia requires the MOZ nucleosome binding motif and TIF2-mediated recruitment of CBP.Deguchi K et al
126191662003Rearrangement of the MOZ gene in pediatric therapy-related myelodysplastic syndrome with a novel chromosomal translocation t(2;8)(p23;p11).Imamura T et al
129640132003A further case of acute myelomonocytic leukemia with inv(8) chromosomal rearrangement and MOZ-NCOA2 gene fusion.Murati A et al

Citation

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

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

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/case-report/208825/img/case-report-explorer/js/lib/bootstrap.min.js