Complex karyotype in de novo acute myeloid leukemia: typical and atypical subtypes differ molecularly and clinically

Autor: Jonathan E. Kolitz, William Blum, Christopher J. Walker, Ann-Kathrin Eisfeld, Jessica Kohlschmidt, James S. Blachly, Dimitrios Papaioannou, Deedra Nicolet, Geoffrey L. Uy, Eunice S. Wang, Marius Bill, Richard Stone, Krzysztof Mrózek, Bayard L. Powell, Clara D. Bloomfield, Andrew J. Carroll, John C. Byrd
Rok vydání: 2019
Předmět:
Male
0301 basic medicine
complex karyotype
Cancer Research
Myeloid
clinical outcome
Gastroenterology
0302 clinical medicine
hemic and lymphatic diseases
Chromosomes
Human

Aged
80 and over

Myeloid leukemia
Hematology
Middle Aged
Prognosis
3. Good health
Gene Expression Regulation
Neoplastic

Survival Rate
Leukemia
Myeloid
Acute

Leukemia
medicine.anatomical_structure
Oncology
030220 oncology & carcinogenesis
Female
Abnormality
Nucleophosmin
Adult
medicine.medical_specialty
NPM1
Adolescent
acute myeloid leukemia
Article
MED12
Young Adult
03 medical and health sciences
Internal medicine
Complex Karyotype
Biomarkers
Tumor

medicine
Humans
Survival rate
Aged
gene mutations
Chromosome Aberrations
business.industry
medicine.disease
030104 developmental biology
Karyotyping
Mutation
next-generation sequencing
business
Follow-Up Studies
Zdroj: Leukemia
ISSN: 1476-5551
0887-6924
Popis: Complex karyotype (CK) with ≥ 3 abnormalities is detected in 10–12% of patients with acute myeloid leukemia (AML) and associated with poor prognosis. The most common unbalanced abnormalities found in CK result in loss of material from the 5q, 7q, and/or 17p chromosome arms. The presence of 5q, 7q, and/or 17p abnormalities denotes typical CK and their absence denotes atypical CK. Since molecular features of CK-AML are not well characterized, we investigated mutational status of 81 leukemia/cancer-associated genes in 160 clinically well-characterized patients. They included 136 patients with ≥ 3 exclusively unbalanced chromosome abnormalities, 96 of whom had a typical CK and 40 atypical CK, and 24 patients with ≥ 1 balanced abnormality in addition to ≥ 2 unbalanced ones. Patients with atypical CK-AML differed from those with typical CK-AML: they carried TP53 mutations less often (P
Databáze: OpenAIRE