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Isolated tetrasomy 8 in AML, MDS and MPD

Written2008-09Olivier Theisen, Jean-Luc Lai, Olivier Nibourel, Catherine Roche-Lestienne
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)

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ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1517
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.
  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.

Clinics and Pathology

Disease Acute myeloid leukemia (AML)
Phenotype / cell stem 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 / cell stem 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 / cell stem 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.




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This paper should be referenced as such :
Theisen, O ; Lai, JL ; Nibourel, O ; Roche-Lestienne, C
Isolated tetrasomy 8 in AML, MDS, MPD
Atlas Genet Cytogenet Oncol Haematol. 2009;13(9):671-672.
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arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
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