Objectives: To discuss VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, including the clinical and pathologic features, diagnostic challenges, and treatment options.
Methods: A case-based approach and pertinent literature review were used to highlight the features of VEXAS syndrome, describe how to make the diagnosis, and discuss available therapies.
Results: VEXAS syndrome is an adult-onset, progressive systemic inflammatory disorder with overlapping rheumatologic and hematologic manifestations, including an increased risk of myelodysplastic neoplasms and plasma cell neoplasms.
Background: Clonal cytopenia of undetermined significance (CCUS) is defined as somatic mutations of myeloid malignancy-associated genes in the blood or bone marrow with one or more persistent unexplained cytopenias that do not meet diagnostic criteria for a defined myeloid neoplasm. CCUS with isolated thrombocytopenia (CCUS-IT) is rare.
Methods: This is a retrospective case series of patients with prolonged isolated thrombocytopenia, a pathogenic mutation on a myeloid molecular panel, and a bone marrow biopsy with morphologic atypia below the WHO-defined diagnostic threshold for dysplasia.
Background: Anti-interferon-gamma autoantibody-associated immunodeficiency syndrome is a rare and underrecognized adult onset immunodeficiency syndrome associated with severe opportunistic infections such as disseminated nontuberculous mycobacterium. Few cases have documented a relationship with IgG4-related disease. Concomitant diagnoses of these diseases present a diagnostic and management challenge.
View Article and Find Full Text PDFImmune checkpoint inhibitors have recently emerged as important and effective advanced cancer treatment options. Programmed cell death receptor-1 (PD-1) antagonists such as pembrolizumab and nivolumab have been approved by the US Food and Drug Administration for treatment of many advanced cancers. As anti-PD-1 checkpoint inhibitor use has been increasing, previously unreported rare side effects emerge.
View Article and Find Full Text PDFThis case report aimed to review the bone marrow features of patients with acute myeloid leukemia (AML) treated with isocitrate dehydrogenase 1/2 () inhibitors. Five patients with AML treated with an inhibitor were identified and retrospectively reviewed. We described the morphologic and immunophenotypic findings in the bone marrow, as well as ancillary study results.
View Article and Find Full Text PDFAberrant autophagy is a major risk factor for inflammatory diseases and cancer. However, the genetic basis and underlying mechanisms are less established. UVRAG is a tumor suppressor candidate involved in autophagy, which is truncated in cancers by a frameshift (FS) mutation and expressed as a shortened UVRAG.
View Article and Find Full Text PDFJuxtaglomerular cell tumor (JGCT) is a rare renal tumor with a predominantly benign clinical course. It affects young adults, who often present with hypertension, hypokalemia, and hyperaldosteronism. The tumor cells are round to spindle-shaped with occasional mild to moderate atypia, but mitotic figures are usually absent.
View Article and Find Full Text PDFAutophagy maintains homeostasis and is induced upon stress. Yet, its mechanistic interaction with oncogenic signaling remains elusive. Here, we show that in BRAF-melanoma, autophagy is induced by BRAF inhibitor (BRAFi), as part of a transcriptional program coordinating lysosome biogenesis/function, mediated by the TFEB transcription factor.
View Article and Find Full Text PDFObjectives: Diagnosis of B-cell acute lymphoblastic leukemia (B-ALL) requires immunophenotypic evidence of B-lineage and absence of specific myeloid or T-lineage markers. Rare cases of otherwise typical B-ALL express myeloperoxidase (MPO) detectable by flow cytometry with an absence of other myeloid markers, but the clinical significance of this finding is not well studied.
Methods: A retrospective cohort analysis of flow cytometry and clinical data was performed to investigate the clinical outcome of this specific group of patients.
Purpose: To calculate bone marrow cellularity from MRI and correlate with bone marrow biopsy.
Methods: Twenty-seven lymphoma patients with staging bone marrow biopsies and lumbar MRI were reviewed. Cellularity was calculated from T1 signal intensity measurements=100 - {[(marrow - CSF)/(subcutaneous fat - CSF)] X 100}.