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Ayalew Tefferi talks with
ScienceWatch.com and answers a few questions about
this month's Fast Moving Fronts paper in the field of Molecular
Biology & Genetics.
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Article: TET2 mutations and their clinical correlates
in polycythemia vera, essential thrombocythemia and
myelofibrosis
Authors: Tefferi, A;Pardanani, A;Lim,
KH;Abdel-Wahab, O;Lasho, TL;Patel, J;Gangat, N;Finke,
CM;Schwager, S;Mullally, A;Li, CY;Hanson, CA;Mesa, R;Bernard,
O;Delhommeau, F;Vainchenker, W;Gilliland, DG;Levine, RL
Journal: LEUKEMIA, 23 (5): 905-911, MAY 2009
Addresses: Mayo Clin, Dept Med, Div Hematol, Rochester, MN
55905 USA.
Mayo Clin, Dept Med, Div Hematol, Rochester, MN 55905
USA.
Mayo Clin, Div Hematopathol, Dept Lab Med, Rochester, MN 55905
USA.
(addresses have been truncated.)
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Why do you think your paper is highly
cited?
TET2 mutations are previously undescribed novel mutations whose clinical
and pathogenetic relevance is actively being investigated. As such, many
investigators are naturally interested in the subject matter and are
working on it as well.
Does it describe a new discovery, methodology, or
synthesis of knowledge?
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"Our group is heavily involved in the science and
clinical practice of myeloproliferative neoplasms and
myelodysplastic syndromes."
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TET2 mutations were first described by a group in France led by Olivier
Bernard of the Hôpital Necker-Enfants Malades, Laboratoire
d'Hématologie in Paris and William Vainchenker of the Institut
Gustave Roussy in Villejuif. Their group is quite well known in mutation
discoveries and deciphering the biology of myeloid neoplasms.
What our group did in this article was to describe the clinical phenotype
of the mutation in a very large group of patients and define its clinical
relevance.
Would you summarize the significance of your paper
in layman's terms?
We provided an estimate on the prevalence of TET2 mutations in a spectrum
of myeloid malignancies and especially in myeloproliferative neoplasms. We
then asked the question as to what it meant to the patient who carries such
mutations and found that it was not necessarily detrimental to their
survival or other disease complications. Others have found that TET2
mutations were good to have in myelodysplastic syndromes.
How did you become involved in this research and
were any particular problems encountered along the way?
Our group is heavily involved in the science and clinical practice of
myeloproliferative neoplasms and myelodysplastic syndromes. My other paper
in the same journal (Tefferi A, Vardiman JW, "Classification and diagnosis
of myeloproliferative neoplasms: the 2008 World Health Organization
criteria and point-of-care diagnostic algorithms," Leukemia 22:
14-22, 2008) has already amassed over 120 citations in less than two years.
Where do you see your research leading in
the future?
Our findings need to be validated by others before making any definite
conclusions and more laboratory studies are needed to understand the
precise pathogenetic contribution of TET2 mutations.
Ayalew Tefferi, M.D.
Professor of Hematology and Medicine
Division of Hematology
Department of Internal Medicine
Mayo Clinic
Rochester, MN, USA
Web |
Web
KEYWORDS: JAK2; MPL; MYELOPROLIFERATIVE; POLYCYTHEMIA; THROMBOCYTHEMIA;
MYELOFIBROSIS; TYROSINE KINASE MUTATION; JAK2 EXON-12 MUTATIONS; ACUTE
MYELOID-LEUKEMIA; MYELOPROLIFERATIVE-DISORDERS; V617F MUTATION; ACTIVATING
MUTATION; ALLELE BURDEN; KIT MUTATION; JAK2V617F; METAPLASIA.
Additional information:
Video: Dr. Ayalew Tefferi, Professor of Hematology
and Medicine at Mayo Clinic in Rochester, MN, discusses the findings of
his retrospective study (N=176) of survival in patients with primary
myelofibrosis younger than 60
years...
