Long-term outcomes with single-agent BRAF inhibitor therapy in Erdheim-Chester disease.

Among 64 patients with Erdheim-Chester disease treated with a BRAF-inhibitor (median follow up 4 years), we found high response rates (85%) but frequent discontinuations (61%), primarily due to adverse events. Additionally, patients experienced persistently poor health-related quality of life.

Clinical Outcomes and Treatment Strategies of Adult Transplant-Associated Thrombotic Microangiopathy: External Validation of Harmonizing Definitions and High-Risk Criteria.

Transplant-associated thrombotic microangiopathy (TA-TMA) is an endothelial dysfunction syndrome observed after allogeneic hematopoietic cell transplant (alloHCT). Our aim was to externally validate the impact of high-risk features on the clinical outcomes of adult patients meeting the updated TA-TMA harmonizing criteria. Between 2005 and 2022, 99 patients were diagnosed with TA-TMA at Mayo Clinic Rochester (incidence 6.

Design and Staged Implementation of a Multidisciplinary Preoperative Anemia Clinic at a Tertiary Care Medical Center.

Background: Preoperative anemia is common and associated with adverse outcomes in surgical patients. There is limited information to guide the design and implementation of preoperative anemia clinics (PAC), which represents a critical barrier to entry for many practices.

Methods: This is a descriptive observational study highlighting the design and implementation of a multidisciplinary PAC, including key steps in planning, stakeholder engagement, organizational structure, identification of target populations, establishing anemia treatments, information technology and electronic health record integration, provider training, and data infrastructure.

Approach to the Patient: From Endocrinopathy to the Diagnosis of a Histiocytic Disorder.

Endocrinopathies are frequently the initial presentation of histiocytic neoplasms, which are rare hematologic disorders affecting multiple organ systems. Langerhans cell histiocytosis and Erdheim-Chester disease are 2 such disorders known to infiltrate the hypothalamus and/or pituitary gland, leading to arginine vasopressin deficiency (AVP-D) and anterior pituitary dysfunction (APD) in 20% to 30% of cases, often as the first manifestation. Conversely, histiocytic disorders account for a notable proportion (10-15%) of all pituitary stalk lesions.

Capillary leak phenotype as a major cause of death in patients with POEMS syndrome.

Cause of death (COD) in POEMS (polyneuropathy, organomegaly, endocrinopathies, monoclonal protein and skin changes) syndrome is not well described. We investigated COD in patients with POEMS syndrome treated at Mayo Clinic between 2000 and 2022. Of the 89 deaths, 49 patients had known COD and were the subject of this study.

Personalized Medicine in Histiocytic Disorders: Novel Targets in Patients Without MAPK Alterations.

Purpose: BRAF and MEK inhibitors are standard treatments in histiocytic disorders, such as Erdheim-Chester disease (ECD). Some patients lack MAPK-pathway alterations, making these treatments less effective.

Methods: We describe three patients with histiocytic disorders who have novel non-MAPK pathway alterations.

Methotrexate and cytarabine in adult LCH: High risk, high reward and maintenance free?

Lin et al. report the long-term follow-up of a phase II trial involving 95 adult patients with Langerhans cell histiocytosis (LCH), investigating the combination of methotrexate and cytarabine (MA). After a median follow-up of 6.

Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib: A Case Report.

Objectives: Pathogenic variants are known to cause autosomal recessive disease with a spectrum of systemic involvement. We sought to expand on the spectrum of variants and describe potential treatment.

Methods: We describe a case of newly diagnosed -related disorder, also known as H syndrome or familial histiocytosis, associated with CNS inflammatory pseudotumor and spinal cord compression.

A comprehensive review on gelatinous transformation of the bone marrow.

Introduction: Gelatinous transformation of the bone marrow (GTBM) represents a clinically significant but often underdiagnosed condition, emphasizing the pivotal role of accurate diagnosis in facilitating appropriate treatment strategies.

Areas Covered: This special report synthesizes insights gathered from a comprehensive appraisal of clinical and pathology publications on GTBM available on PubMed. By employing search terms such as 'gelatinous,' 'gelatinous transformation,' and 'bone marrow,' this report aims to provide a nuanced understanding of GTBM, elucidating distinctive pathological features while distinguishing it from similar pathologies.

A machine learning approach to predict mortality due to immune-mediated thrombotic thrombocytopenic purpura.

Background: Mortality due to immune-mediated thrombotic thrombocytopenic purpura (iTTP) remains significant. Predicting mortality risk may potentially help individualize treatment. The French Thrombotic Microangiopathy (TMA) Reference Score has not been externally validated in the United States.