Isolated tetrasomy 8 in AML, MDS and MPD

2008-09-01   Jean-Luc Lai , Olivier Nibourel , Catherine Roche-Lestienne , Olivier Theisen 

1.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

Acute myeloid leukemia (AML)

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

Atlas Image

Bibliography

Pubmed IDLast YearTitleAuthors

Summary

Note

Isolated tetrasomy 8 is relatively rare compared to trisomy 8. A review of literature revealed only 29 cases of solely tetrasomy 8 in hematologic malignancies. Except for the implication of MLL in AML cases, no additional molecular abnormalities have been explored.
Atlas Image
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/img/img/css/lib/bootstrap.min.css