Isolated tetrasomy 8 in AML, MDS and MPD
2008-09-01 Jean-Luc Lai  , Olivier Nibourel  , Catherine Roche-Lestienne  , Olivier Theisen   Affiliation1.Laboratoire de genetique medicale, hopital Jeanne de Flandre, CHRU de Lille, France (OT, JLL, CRL); Laboratoire d hematologie, Centre de Biologie et Pathologie, CHRU de Lille, France (ON)
2.Laboratoire de genetique medicale, hopital Jeanne de Flandre, CHRU de Lille, France (OT, JLL, CRL); Laboratoire dhematologie, Centre de Biologie et Pathologie, CHRU de Lille, France (ON)
Clinics and Pathology
Disease
Phenotype stem cell origin
FAB subtypes: M0 AML (2 cases) M1 AML (1 case) M2 AML (3 cases) M4 AML (3 cases) M5 AML (11 cases out 20).
Epidemiology
Median age 56 years (range: 17-82 years); sex ratio: 13M/7F.
Clinics
Tetrasomy 8 has been observed in de novo malignant hemopathies as well as in leukaemia with prior history of haematological disorder (4 cases of myelodisplastic syndrome: 2 RA and 2 RAEB), exposure to radiotherapy or treatment with cytotoxic chemotherapy (1 case of each).
Prognosis
Median survival: 15 months.
Disease
Myelodysplastic syndrome (MDS)
Phenotype stem cell origin
FAB subtypes: refractory anemia (RA) (1 case), refractory anemia with excess of blasts (RAEB) (1 case), refractory anemia with ringed sideroblasts (RARS) (1 case), chronic myelomonocytic leukemia (CMML) (2 cases) and MF (1 case).
Epidemiology
Median age: 68 years (range: 46-91 years); sex ratio: 4M/2F.
Prognosis
Median survival: 5.5 months.
Disease
Myeloproliferative disorder (MPD)
Phenotype stem cell origin
Subtypes: polycytemia vera (PV) (1 case) and myelofibrosis (MMM) (2 cases).
Epidemiology
Median age: 36 years (range 30-51 years); sex ratio: 0M/3F.
Prognosis
Median survival: 36 months.
Cytogenetics

Genes Involved and Proteins
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 15993266 | 2005 | Polysomy 8 defines a clinico-cytogenetic entity representing a subset of myeloid hematologic malignancies associated with a poor prognosis: report on a cohort of 12 patients and review of 105 published cases. | Beyer V et al |
| 8535231 | 1995 | Tetrasomy of chromosome 8 in a patient with acute myeloid leukemia. | Cull GM et al |
| 10942810 | 2000 | Trisomy/ tetrasomy of chromosome 8 and +i(8q) as the sole chromosome abnormality in three adult patients with myelomonocytic leukemia. | Ferro MT et al |
| 8453606 | 1993 | A new case of isolated tetrasomy of chromosome 8 in a patient with therapy-related myelodysplastic syndrome: confirmation by chromosome painting in metaphase and interphase nuclei. | Flactif M et al |
| 3594416 | 1987 | Tetrasomy of chromosome 8: an interesting and rare cytogenetic phenomenon in acute nonlymphocytic leukemia. | Jani Sait SN et al |
| 11172910 | 2001 | Clonal evolution from trisomy into tetrasomy of chromosome 8 associated with the development of acute myeloid leukemia from myelodysplastic syndrome. | Kameoka J et al |
| 18728374 | 2008 | Tetrasomy 8 in a patient with acute monoblastic leukemia. | Kim J et al |
| 1638477 | 1992 | Prognostic impact of karyotype and immunologic phenotype in 125 adult patients with de novo AML. | Marosi C et al |
| 8275452 | 1993 | Tetrasomy 8 in acute monoblastic leukemia (AML-M5a) with myelosarcomatosis of the skin. | Marosi C et al |
| 7992836 | 1994 | Fluorescent in situ hybridization in routinely processed bone marrow aspirate clot and core biopsy sections. | Miranda RN et al |
| 9109946 | 1997 | Coexistence of tetrasomy 8 and trisomy 8 in a case with myeloid metaplasia with myelofibrosis. | Solé F et al |
| 8143266 | 1994 | Tetrasomy 8 as a clonal anomaly in myeloid neoplasias. | Trautmann U et al |
| 8402549 | 1993 | A further case of acute nonlymphocytic leukemia with tetrasomy 8. | Wullich B et al |
| 10342586 | 1999 | Isolated tetrasomy 8 in minimally differentiated acute myeloid leukemia (AML-M0). | Xue Y et al |
| 11297762 | 2001 | Tetrasomy 8 is associated with a major cellular proliferative advantage and a poor prognosis. two cases of myeloid hematologic disorders and review of the literature. | Yan J et al |
| 2065313 | 1991 | Tetrasomy 8 in acute myelomonocytic leukemia developing after a gastric cancer operation. | Yoshida J et al |
Summary
Note

Tetrasomy 8 GTG-banding karyotype with isolated tetrasomy 8 in AML-M5 left: - Courtesy Olivier Theisen, Jean-Luc Lai, Olivier Nibourel, Catherine Roche-Lestienne; center and right: - Courtesy Adriana Zamecnikova; Fluorescence in situ hybridization with the Vysis CEP 8 SpectrumOrange probe specific for the alpha satellite (centromeric) region, 8p11.1-q11.1 (Abbott Molecular, US) showing 4 red signals in metaphase chromosomes and interphase nuclei - Courtesy Adriana Zamecnikova.
Citation
Jean-Luc Lai ; Olivier Nibourel ; Catherine Roche-Lestienne ; Olivier Theisen
Isolated tetrasomy 8 in AML, MDS and MPD
Atlas Genet Cytogenet Oncol Haematol. 2008-09-01
Online version: http://atlasgeneticsoncology.org/haematological/1517/isolated-tetrasomy-8-in-aml-mds-and-mpd
