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

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
159932662005Polysomy 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
85352311995Tetrasomy of chromosome 8 in a patient with acute myeloid leukemia.Cull GM et al
109428102000Trisomy/ tetrasomy of chromosome 8 and +i(8q) as the sole chromosome abnormality in three adult patients with myelomonocytic leukemia.Ferro MT et al
84536061993A 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
35944161987Tetrasomy of chromosome 8: an interesting and rare cytogenetic phenomenon in acute nonlymphocytic leukemia.Jani Sait SN et al
111729102001Clonal evolution from trisomy into tetrasomy of chromosome 8 associated with the development of acute myeloid leukemia from myelodysplastic syndrome.Kameoka J et al
187283742008Tetrasomy 8 in a patient with acute monoblastic leukemia.Kim J et al
16384771992Prognostic impact of karyotype and immunologic phenotype in 125 adult patients with de novo AML.Marosi C et al
82754521993Tetrasomy 8 in acute monoblastic leukemia (AML-M5a) with myelosarcomatosis of the skin.Marosi C et al
79928361994Fluorescent in situ hybridization in routinely processed bone marrow aspirate clot and core biopsy sections.Miranda RN et al
91099461997Coexistence of tetrasomy 8 and trisomy 8 in a case with myeloid metaplasia with myelofibrosis.Solé F et al
81432661994Tetrasomy 8 as a clonal anomaly in myeloid neoplasias.Trautmann U et al
84025491993A further case of acute nonlymphocytic leukemia with tetrasomy 8.Wullich B et al
103425861999Isolated tetrasomy 8 in minimally differentiated acute myeloid leukemia (AML-M0).Xue Y et al
112977622001Tetrasomy 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
20653131991Tetrasomy 8 in acute myelomonocytic leukemia developing after a gastric cancer operation.Yoshida J et al

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/isolated-tetrasomy-8-in-aml-mds-and-mpd