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Genomic and Clinical Findings in Myeloid Neoplasms with PDGFRB Rearrangement

ABSTRACT: This SuperSeries is composed of the SubSeries listed below.

ORGANISM(S): Homo sapiens

PROVIDER: GSE182820 | GEO | 2021/12/23

REPOSITORIES: GEO

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Genomic and clinical findings in myeloid neoplasms with PDGFRB rearrangement.

Project description:Platelet-derived growth factor receptor B (PDGFRB) gene rearrangements define a unique subgroup of myeloid and lymphoid neoplasms frequently associated with eosinophilia and characterized by high sensitivity to tyrosine kinase inhibition. To date, various PDGFRB/5q32 rearrangements, involving at least 40 fusion partners, have been reported. However, information on genomic and clinical features accompanying rearrangements of PDGFRB is still scarce. Here, we characterized a series of 14 cases with a myeloid neoplasm using cytogenetic, single nucleotide polymorphism array, and next-generation sequencing. We identified nine PDGFRB translocation partners, including the KAZN gene at 1p36.21 as a novel partner in a previously undescribed t(1;5)(p36;q33) chromosome change. In all cases, the PDGFRB recombination was the sole cytogenetic abnormality underlying the phenotype. Acquired somatic variants were mainly found in clinically aggressive diseases and involved epigenetic genes (TET2, DNMT3A, ASXL1), transcription factors (RUNX1 and CEBPA), and signaling modulators (HRAS). By using both cytogenetic and nested PCR monitoring to evaluate response to imatinib, we found that, in non-AML cases, a low dosage (100-200 mg) is sufficient to induce and maintain longstanding hematological, cytogenetic, and molecular remissions.

| S-EPMC8742810 | biostudies-literature

Genomic and Clinical Findings in Myeloid Neoplasms with PDGFRB Rearrangement [seq]

Project description:Here we characterized a series of 14 cases with myeloid neoplasms using cytogenetic, single nucleotide polymorphism array, and next generation sequencing.

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Genomic and Clinical Findings in Myeloid Neoplasms with PDGFRB Rearrangement

Project description:Genomic and Clinical Findings in Myeloid Neoplasms with PDGFRB Rearrangement

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Genomic and Clinical Findings in Myeloid Neoplasms with PDGFRB Rearrangement [seq]

Project description:Genomic and Clinical Findings in Myeloid Neoplasms with PDGFRB Rearrangement [seq]

| PRJNA757978 | ENA

Affymetrix SNP array data for Myeloid Neoplasms with PDGFRB Rearrangement

Project description:Here we characterized a series of cases with myeloid neoplasms using cytogenetic, single nucleotide polymorphism array, and next generation sequencing.

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Recurrent mutations of multiple components of cohesin complex in myeloid neoplasms

Project description:This SuperSeries is composed of the SubSeries listed below. Refer to individual Series

2013-07-15 | E-GEOD-47684 | biostudies-arrayexpress

A genomic and clinical prognostic index for hepatitis C-related early-stage cirrhosis that predicts clinical deterioration

Project description:This SuperSeries is composed of the SubSeries listed below. Refer to individual Series

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Affymetrix SNP array data for Myeloid Neoplasms with PDGFRB Rearrangement

Project description:Affymetrix SNP array data for Myeloid Neoplasms with PDGFRB Rearrangement

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Nuclear compensation to a lineage-specific mitochondrial genomic rearrangement in plants

Project description:This SuperSeries is composed of the SubSeries listed below.

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Clinical, morphologic, and genomic findings in ROS1 fusion Spitz neoplasms.

Project description:The presence of a characteristic chimeric fusion as the initiating genomic event is one defining feature of Spitz neoplasms. Characterization of specific subtypes of Spitz neoplasms allows for better recognition facilitating diagnosis. Data on clinical outcomes of the specific tumor types may help in predicting behavior. In this study we present the largest series to date on ROS1 fusion Spitz neoplasms. We present the clinical, morphologic, and genomic features of 17 cases. We compared the morphologic features of these 17 cases to a cohort of 99 other non-ROS1 Spitz neoplasms to assess for features that may have high specificity for ROS1 fusions. These tumors consisted of ten Spitz nevi and seven Spitz tumors. None of the cases met criteria for a diagnosis of Spitz melanoma. Morphologically, the ROS1 fusion tumors of this series were characterized by a plaque-like or nodular silhouette, often densely cellular intraepidermal melanocyte proliferation, frequent pagetosis, tendency toward spindle cell cytomorphology, low grade nuclear atypia, and floating nests with occasional transepidermal elimination. However, there was a significant range in microscopic appearances, including two cases with morphologic features of a desmoplastic Spitz nevus. Different binding partners to ROS1 were identified with PWWP2A and TPM3 being the most common. No case had a recurrence or metastasis. Our findings document that most ROS1 fusion Spitz neoplasms have some typical characteristic microscopic features, while a small proportion will have features overlapping with other genomic subtypes of Spitz neoplasms. Preliminary evidence suggests that they tend to be indolent or low grade neoplasms.

| S-EPMC7855005 | biostudies-literature

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