Isolated tetrasomy 8 in AML, MDS and MPD

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Isolated tetrasomy 8 in AML, MDS and MPD

Identity

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.

GTG-banding karyotype with isolated tetrasomy 8 in AML-M5.

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.

Cytogenetics

Probes Specific sequences for the centromere of chromosome 8.
No cryptic MLL rearrangements were detected in all cases.

Bibliography

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Contributor(s)

Written 09-2008 Olivier 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)

Citation

This paper should be referenced as such :
Theisen O, Lai JL, Nibourel O, Roche-Lestienne C . Isolated tetrasomy 8 in AML, MDS and MPD. Atlas Genet Cytogenet Oncol Haematol. Septem ber 2008 .
URL : http://AtlasGeneticsOncology.org/Genes/Tetra8ID1517.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 6 18:01:39 2008

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.

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.


	GTG-banding karyotype with isolated tetrasomy 8 in AML-M5.

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.



Probes	Specific sequences for the centromere of chromosome 8. No cryptic MLL rearrangements were detected in all cases.

Written	09-2008	Olivier 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)