Implementation of whole-genome and transcriptome sequencing into clinical cancer care

E Cuppen, O Elemento, R Rosenquist, S Nikic… - JCO Precision …, 2022 - ascopubs.org
PURPOSE The combination of whole-genome and transcriptome sequencing (WGTS) is
expected to transform diagnosis and treatment for patients with cancer. WGTS is a …

Genome instability in multiple myeloma: Facts and factors

AY Aksenova, AS Zhuk, AG Lada, IV Zotova… - Cancers, 2021 - mdpi.com
Simple Summary Multiple myeloma is an incurable blood cancer caused by the malignant
transformation of immunoglobulin-producing plasma cells. The mechanisms leading to the …

Enhancer Hijacking Drives Oncogenic BCL11B Expression in Lineage-Ambiguous Stem Cell Leukemia

LE Montefiori, S Bendig, Z Gu, X Chen, P Pölönen… - Cancer discovery, 2021 - AACR
Lineage-ambiguous leukemias are high-risk malignancies of poorly understood genetic
basis. Here, we describe a distinct subgroup of acute leukemia with expression of myeloid, T …

Guiding the global evolution of cytogenetic testing for hematologic malignancies

YMN Akkari, LB Baughn, AM Dubuc… - Blood, The Journal …, 2022 - ashpublications.org
Cytogenetics has long represented a critical component in the clinical evaluation of
hematologic malignancies. Chromosome banding studies provide a simultaneous snapshot …

SF3B1 mutated MDS: Blast count, genetic co-abnormalities and their impact on classification and prognosis

S Huber, T Haferlach, M Meggendorfer, S Hutter… - Leukemia, 2022 - nature.com
Recently, MDS with mutated SF3B1 and blast count< 5% was proposed as distinct entity
with favorable prognosis by the international working group for the prognosis of MDS (IWG …

Single-and double-hit events in genes encoding immune targets before and after T cell–engaging antibody therapy in MM

MS Truger, J Duell, X Zhou, L Heimeshoff… - Blood …, 2021 - ashpublications.org
T cell–engaging immunotherapies exert unprecedented single-agent activity in multiple
myeloma (MM), thereby putting a yet unexplored selective pressure on the clonal …

Indeterminate and oncogenic potential: CHIP vs CHOP mutations in AML with NPM1 alteration

LV Cappelli, M Meggendorfer, C Baer, N Nadarajah… - Leukemia, 2022 - nature.com
In AML patients, recurrent mutations were shown to persist in remission, however, only some
have a prognostic value and persistent mutations might therefore reflect a re-established …

Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia

F Rezayee, J Eisfeldt, A Skaftason, I Öfverholm… - Frontiers in …, 2023 - frontiersin.org
Introduction The suitability of whole-genome sequencing (WGS) as the sole method to
detect clinically relevant genomic aberrations in B-cell acute lymphoblastic leukemia (ALL) …

Next-generation diagnostics for precision oncology: Preanalytical considerations, technical challenges, and available technologies

W Walter, N Pfarr, M Meggendorfer, P Jost… - Seminars in cancer …, 2022 - Elsevier
Molecular diagnostics as the centrepiece of precision oncology has gone through
revolutionary developments over the last decade, becoming tremendously broad, deep and …

RNA-sequencing based first choice of treatment and determination of risk in multiple myeloma

M Emde-Rajaratnam, S Beck, V Benes… - Frontiers in …, 2023 - frontiersin.org
Background Immunotherapeutic targets in multiple myeloma (MM) have variable expression
height and are partly expressed in subfractions of patients only. With increasing numbers of …