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

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).

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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).

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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
		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)

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 . . Atlas Genet Cytogenet Oncol Haematol. February 2007 . URL : http://AtlasGeneticsOncology.org/Genes/08LaffinID100027.html

This paper is referenced by INIST as such :

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sat Mar 9 12:39:49 CET 2013

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