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Different distribution of NOTCH1 mutations in chronic lymphocytic leukemia with isolated trisomy 12 or associated with other chromosomal alterations
Genes chromosomes & cancer, 2012-09, Vol.51 (9), p.881-889
López, Cristina
Delgado, Julio
Costa, Dolors
Conde, Laura
Ghita, Gabriela
Villamor, Neus
Navarro, Alba
Cazorla, Maite
Gómez, Cándida
Arias, Amparo
Muñoz, Concha
Baumann, Tycho
Rozman, María
Aymerich, Marta
Colomer, Dolors
Cobo, Francesc
Campo, Elías
López-Guillermo, Armando
Montserrat, Emili
Carrió, Ana
2012
Details
Autor(en) / Beteiligte
López, Cristina
Delgado, Julio
Costa, Dolors
Conde, Laura
Ghita, Gabriela
Villamor, Neus
Navarro, Alba
Cazorla, Maite
Gómez, Cándida
Arias, Amparo
Muñoz, Concha
Baumann, Tycho
Rozman, María
Aymerich, Marta
Colomer, Dolors
Cobo, Francesc
Campo, Elías
López-Guillermo, Armando
Montserrat, Emili
Carrió, Ana
Titel
Different distribution of NOTCH1 mutations in chronic lymphocytic leukemia with isolated trisomy 12 or associated with other chromosomal alterations
Ist Teil von
Genes chromosomes & cancer, 2012-09, Vol.51 (9), p.881-889
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2012
Link zum Volltext
Quelle
MEDLINE
Beschreibungen/Notizen
Chronic lymphocytic leukemia (CLL) is the most common leukemia among adults in Western countries. Chromosomal abnormalities commonly found using conventional cytogenetics and FISH are del(11)(q22‐23), trisomy 12, del(13)(q14), and del(17)(p13). Trisomy 12 is the most frequent numerical abnormality in CLL. It can appear isolated or associated with other chromosomal aberrations, including t(14;18)(q32;q21) and trisomy 18. The aim of this study was to determine whether CLL patients with isolated trisomy 12 or associated with other chromosomal alterations have different clinico‐pathological features, including a different distribution NOTCH1 mutation. Patients were classified into four groups: Group 1, isolated trisomy 12 (n = 14); Group 2, trisomy 12 plus trisomy 18 (n = 4); Group 3, trisomy 12 plus t(14;18) (n = 8); and Group 4: patients with trisomy 12 plus other abnormalities not involving BCL2 (n = 28). The Binet stage and expression of ZAP70 were significantly different among cytogenetic groups. NOTCH1 mutations were detected in 6/12 (50%) patients from Group 1, 4/25 (16%) patients from Group 4, and in no patient from groups 2 and 3 (P = 0.020). Patients in Group 2 had a more rapid disease progression (median Treatment‐free Survival 2 months) as against patients from Groups 1 (50 months), 3 (69 months), or 4 (68 months; P = 0.001). These findings indicate that the distribution of NOTCH1 mutations in CLL with trisomy 12 is heterogeneous and that the presence of additional chromosomal abnormalities such as trisomy 18 could change the prognosis of these patients. © 2012 Wiley Periodicals, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1045-2257
eISSN: 1098-2264
DOI: 10.1002/gcc.21972
Titel-ID: cdi_proquest_miscellaneous_1024477796
Format
–
Schlagworte
Adult
,
Aged
,
Aged, 80 and over
,
Chromosome Aberrations
,
Chromosomes, Human, Pair 12 - genetics
,
Disease Progression
,
DNA, Neoplasm - genetics
,
Female
,
Humans
,
In Situ Hybridization, Fluorescence
,
Leukemia, Lymphocytic, Chronic, B-Cell - genetics
,
Leukemia, Lymphocytic, Chronic, B-Cell - mortality
,
Male
,
Middle Aged
,
Mutation - genetics
,
Mutation Rate
,
Polymerase Chain Reaction
,
Prognosis
,
Receptor, Notch1 - genetics
,
Survival Rate
,
Trisomy - genetics
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