Anna Rehammar
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View article: Prognostic significance of deep sequencing for analysis of measurable residual disease in acute myeloid leukemia with <i>NPM1</i> mutation
Prognostic significance of deep sequencing for analysis of measurable residual disease in acute myeloid leukemia with <i>NPM1</i> mutation Open
In acute myeloid leukemia with NPM1 mutation, analysis of measurable residual disease (MRD) with reverse transcription quantitative polymerase chain reaction (RT-qPCR) is recommended for response assessment and monitoring after treatment. …
View article: Presence of Leukemia-Related Basophils and Mast Cells with Atypical Immunophenotype during Induction Should Not be Interpreted As Measurable Residual Disease in Children with Acute Myeloid Leukemia with <i>RUNX1</i>::<i>RUNX1T1</i>
Presence of Leukemia-Related Basophils and Mast Cells with Atypical Immunophenotype during Induction Should Not be Interpreted As Measurable Residual Disease in Children with Acute Myeloid Leukemia with <i>RUNX1</i>::<i>RUNX1T1</i> Open
In most study protocols for children with acute myeloid leukemia (AML), treatment response is assessed with flow cytometry (FCM) after one and/or two courses of induction treatment, impacting risk stratification. In AML with RUNX1::RUNX1T1…
View article: Deep Sequencing Is a Widely Applicable Tool for Relapse Prediction in Acute Myeloid Leukemia with Mutated <i>NPM1</i>
Deep Sequencing Is a Widely Applicable Tool for Relapse Prediction in Acute Myeloid Leukemia with Mutated <i>NPM1</i> Open
Analysis of measurable residual disease (MRD) is a powerful tool for assessment of treatment response in acute myeloid leukemia (AML). In patients with mutation in NPM1, reverse transcription quantitative polymerase chain reaction (RT-qPCR…
View article: P468: DETECTION AND CHARACTERIZATION OF RESIDUAL LEUKEMIC CELLS IN CHILDHOOD ACUTE MYELOID LEUKEMIA USING TARGETED DEEP SEQUENCING AND SINGLE CELL MULTI-OMICS
P468: DETECTION AND CHARACTERIZATION OF RESIDUAL LEUKEMIC CELLS IN CHILDHOOD ACUTE MYELOID LEUKEMIA USING TARGETED DEEP SEQUENCING AND SINGLE CELL MULTI-OMICS Open
Background: In children with acute myeloid leukemia (AML), treatment intensification based on measurable residual disease (MRD) detected by multiparameter flow cytometry (MFC) shows promising results. However, a substantial proportion of p…
View article: SMAD4 haploinsufficiency in small intestinal neuroendocrine tumors
SMAD4 haploinsufficiency in small intestinal neuroendocrine tumors Open
Background Patients with small intestinal neuroendocrine tumors (SINETs) frequently present with lymph node and liver metastases at the time of diagnosis, but the molecular changes that lead to the progression of these tumors are largely u…
View article: SMAD4 Haploinsufficiency in Small Intestinal Neuroendocrine Tumors
SMAD4 Haploinsufficiency in Small Intestinal Neuroendocrine Tumors Open
Background Patients with small intestinal neuroendocrine tumors (SINETs) frequently present with lymph node and liver metastases at the time of diagnosis, but the molecular changes that lead to the progression of these tumors are largely u…
View article: MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression
MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression Open
Identification of additional cancer-associated genes and secondary mutations driving the metastatic progression in pheochromocytoma and paraganglioma (PPGL) is important for subtyping, and may provide optimization of therapeutic regimens. …
View article: Statistical assessment of genomic variability in tumours and bacterial communities
Statistical assessment of genomic variability in tumours and bacterial communities Open
Current high-throughput DNA sequencing technologies have the ability to generate large amounts of high-resolution genomic data. The high dimensionality in combination with the substantial levels of technical errors and biological variabili…
View article: Strategies to improve usability and preserve accuracy in biological sequence databases
Strategies to improve usability and preserve accuracy in biological sequence databases Open
Biology is increasingly dependent on large‐scale analysis, such as proteomics, creating a requirement for efficient bioinformatics. Bioinformatic predictions of biological functions rely upon correctly annotated database sequences, and the…
View article: Statistical assessment of somatic mutations and genomic variability using DNA sequence data
Statistical assessment of somatic mutations and genomic variability using DNA sequence data Open
The development of new DNA sequencing techniques have made it possible to generate high-resolution genomic data at an unprecedented pace. However, the high dimensionality in combination with the substantial levels of technical errors and b…
View article: Malignant pheochromocytomas/paragangliomas harbor mutations in transport and cell adhesion genes
Malignant pheochromocytomas/paragangliomas harbor mutations in transport and cell adhesion genes Open
One out of ten patients with pheochromocytoma (PCC) and paraganglioma (PGL) develop malignant disease. Today there are no reliable pathological methods to predict malignancy at the time of diagnosis. Tumors harboring mutations in the succi…