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Newly diagnosed isolated myeloid sarcoma-paired NGS panel analysis of extramedullary tumor and bone marrow.

ABSTRACT: Isolated myeloid sarcoma (MS) is a rare malignancy in which myeloid blast forms tumors at various locations while the bone marrow (BM) remains cytomorphologically free from disease. We analyzed isolated MS from four patients and their BMs at initial diagnosis and follow-up, using a custom next-generation sequencing (NGS) panel. We observed possible clonal evolution and a clonal hematopoiesis of indeterminate potential (CHIP)-like finding in the BM of one of three cases with detectable mutations. Clinical presentation of one patient suggested extramedullary confined homing of blasts to distal sites in the relapse situation still sparing the BM. In summary, our findings shall motivate future work regarding signals of extramedullary blast trafficking and clonal evolution in MS.

SUBMITTER: Engel NW

PROVIDER: S-EPMC7817572 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

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Newly diagnosed isolated myeloid sarcoma-paired NGS panel analysis of extramedullary tumor and bone marrow.

Engel Nils W NW Reinert Jochim J Borchert Nora M NM Panagiota Victoria V Gabdoulline Razif R Thol Felicitas F Heuser Michael M Fiedler Walter W

Annals of hematology 20201027 2

Isolated myeloid sarcoma (MS) is a rare malignancy in which myeloid blast forms tumors at various locations while the bone marrow (BM) remains cytomorphologically free from disease. We analyzed isolated MS from four patients and their BMs at initial diagnosis and follow-up, using a custom next-generation sequencing (NGS) panel. We observed possible clonal evolution and a clonal hematopoiesis of indeterminate potential (CHIP)-like finding in the BM of one of three cases with detectable mutations. ...[more]

PMID: 33108522

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Project description:IntroductionInformation on the psychosocial distress and needs of sarcoma patients at diagnosis is sparse. The Canadian Problem Checklist (CPC) and Psychosocial Screen for Cancer-Revised (PSSCAN-R) are validated tools to identify cancer patients' distress and are administered to all new patients referred to BC Cancer prior to their consultation. We used the CPC and PSSCAN-R to understand sarcoma patients' needs at the initial oncology consultation in British Columbia, Canada.Materials and methodsAll sarcoma patients who completed the CPC and PSSCAN-R within 6?months of diagnosis between 2011 and 2016 were included. The retrospective chart review identified baseline demographics: age, performance status, disease location, resectability, and histology. Analysis was conducted using descriptive statistics, chi-squared test, Fisher's exact test, and Kaplan-Meier method.Results413 sarcoma patients were identified. The majority of patients were over the age of 40 (83.3%) with ECOG performance status 0-1 (82.6%) and lower extremity tumors (55.4%). The most common diagnoses were liposarcoma 21.3%, undifferentiated pleomorphic sarcoma 12.1%, and myxofibrosarcoma 11.1%. At the initial consultation, 42.6% of patients were deemed resectable, 8.5% unresectable/metastatic, and 48.9% required further staging investigations. The top three patient-reported distress symptoms were feeling tense and unable to relax (50%), feeling nervous and shaky (48%), and experiencing repetitive and scary thoughts (42%). 38% of patients had subclinical/clinical anxiety symptoms, and 21% of patients had subclinical/clinical depression symptoms. 5% of patients expressed suicidal ideation. The top three concerns/needs were understanding of illness/treatment (45.5%), fear/worries (45.3%), and worry about family (23%). No differences in overall survival were identified for patients displaying symptoms of depression or anxiety versus no symptoms.DiscussionUp to 45% of sarcoma patients experience some form of psychological distress at disease presentation. Patients desire information about their diagnosis and treatment. Tailored interventions to individual psychological comorbidity and improved patient education resources would be beneficial.

Project description:BackgroundBone marrow multipotent mesenchymal stromal cells (MSCs) are a diverse subset of precursors that contribute to the homeostasis of the hematopoietic niche. MSCs can be isolated and expanded in vitro and have unique immunomodulatory and regenerative properties that make them attractive for the treatment of autoimmune diseases, including type 1 diabetes (T1D). Whether autologous or allogeneic MSCs are more suitable for therapeutic purposes has not yet been established. While autologous MSCs may present abnormal function, allogeneic cells may be recognized and rejected by the host immune system. Thus, studies that investigate biological characteristics of MSCs isolated from T1D patients are essential to guide future clinical applications.MethodsBone marrow-derived MSCs from recently diagnosed type 1 diabetes patients (T1D-MSCs) were compared with those from healthy individuals (C-MSCs) for morphological and immunophenotypic characteristics and for differentiation potential. Bioinformatics approaches allowed us to match absolute and differential gene expression of several adhesion molecules, immune mediators, growth factors, and their receptors involved with hematopoietic support and immunomodulatory properties of MSCs. Finally, the differentially expressed genes were collated for functional pathway enrichment analysis.ResultsT1D-MSCs and C-MSCs were similar for morphology, immunophenotype, and differentiation potential. Our absolute gene expression results supported previous literature reports, while also detecting new potential molecules related to bone marrow-derived MSC functions. T1D-MSCs showed intrinsic abnormalities in mRNA expression, including the immunomodulatory molecules VCAM-1, CXCL12, HGF, and CCL2. Pathway analyses revealed activation of sympathetic nervous system and JAK STAT signaling in T1D-MSCs.ConclusionsCollectively, our results indicate that MSCs isolated from T1D patients present intrinsic transcriptional alterations that may affect their therapeutic potential. However, the implications of these abnormalities in T1D development as well as in the therapeutic efficacy of autologous MSCs require further investigation.

Dataset Information

Newly diagnosed isolated myeloid sarcoma-paired NGS panel analysis of extramedullary tumor and bone marrow.

Publications

Newly diagnosed isolated myeloid sarcoma-paired NGS panel analysis of extramedullary tumor and bone marrow.

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