Mutant PIK3CA is a targetable driver alteration in histiocytic neoplasms
Blood Adv. 2023 Oct 23:bloodadvances.2022009349. doi: 10.1182/bloodadvances.2022009349. Online ahead of print.ABSTRACTLangerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasm characterized by the accumulation of clonal mononuclear phagocyte system cells expressing CD1a and CD207. In the past decade, molecular profiling of LCH, as well as other histiocytic neoplasms demonstrated that these diseases are driven by MAP kinase (MAPK) activating alterations, with somatic BRAFV600E mutations in >50% of LCH patients, and clinical inhibition of MAPK signaling has demonstrated remarkable clinical efficacy. At the s...
Source: Adv Data - October 24, 2023 Category: Epidemiology Authors: Benjamin H Durham Oshrat Hershkovitz-Rokah Omar I Abdel-Wahab Mariko Yabe Young Rock Chung Gilad Itchaki Maayan Ben-Sasson Vered A Asher-Guz David Groshar Seyram A Doe-Tetteh Tina Alano David B Solit Ofer Shpilberg Eli L Diamond Roei D Mazor Source Type: research
Neurological syndromes and potential triggers associated with antibodies to neuronal surface antigens
CONCLUSION: We identified seasonal variability associated with neuronal surface antibodies suggesting environmental triggers. Also, we described the coexistence of NMDAr-IgG encephalitis with histiocytosis. In our series, most patients received second-line immunotherapy. We observed neurologic improvement after treatment even in cases of delayed diagnosis. Increasing the recognition and availability of tests and treatments for these conditions is of paramount importance in low- and middle-income countries.PMID:37864878 | DOI:10.1016/j.msard.2023.105022 (Source: Herpes)
Source: Herpes - October 21, 2023 Category: Infectious Diseases Authors: Bruna Klein da Costa Paula de Oliveira Pinto Lia Staub Gisele Hansel Guilherme Vanik Pinto Lucas Porcello Schilling Giordani Rodrigues Dos Passos William Alves Martins Jefferson Becker Raphael Machado Castilhos Andr é Palmini Douglas Kazutoshi Sato Source Type: research
Sea-blue histiocytosis
Ann Pathol. 2023 Oct 19:S0242-6498(23)00202-X. doi: 10.1016/j.annpat.2023.10.001. Online ahead of print.ABSTRACTA 78-year-old woman with hypertrophic cardiomyopathy underwent a septal myomectomy and valve replacement. In the immediate postoperative period she developed shock of mixed etiology and died. At autopsy, hepatomegaly and splenomegaly were identified, with PAS and Giemsa positive intracellular ceroid granular deposits. Sea-blue histiocytosis is an extremely rare, chronic and benign deposit disease. It is characterized by hepatosplenomegaly, thrombocytopenia and lymphadenopathy. The presence of ceroid substance in ...
Source: Annales de Pathologie - October 21, 2023 Category: Pathology Authors: M ónica Bronte Anaut Javier Arredondo Montero Source Type: research
Neurological syndromes and potential triggers associated with antibodies to neuronal surface antigens
CONCLUSION: We identified seasonal variability associated with neuronal surface antibodies suggesting environmental triggers. Also, we described the coexistence of NMDAr-IgG encephalitis with histiocytosis. In our series, most patients received second-line immunotherapy. We observed neurologic improvement after treatment even in cases of delayed diagnosis. Increasing the recognition and availability of tests and treatments for these conditions is of paramount importance in low- and middle-income countries.PMID:37864878 | DOI:10.1016/j.msard.2023.105022 (Source: Herpes)
Source: Herpes - October 21, 2023 Category: Infectious Diseases Authors: Bruna Klein da Costa Paula de Oliveira Pinto Lia Staub Gisele Hansel Guilherme Vanik Pinto Lucas Porcello Schilling Giordani Rodrigues Dos Passos William Alves Martins Jefferson Becker Raphael Machado Castilhos Andr é Palmini Douglas Kazutoshi Sato Source Type: research
Sea-blue histiocytosis
Ann Pathol. 2023 Oct 19:S0242-6498(23)00202-X. doi: 10.1016/j.annpat.2023.10.001. Online ahead of print.ABSTRACTA 78-year-old woman with hypertrophic cardiomyopathy underwent a septal myomectomy and valve replacement. In the immediate postoperative period she developed shock of mixed etiology and died. At autopsy, hepatomegaly and splenomegaly were identified, with PAS and Giemsa positive intracellular ceroid granular deposits. Sea-blue histiocytosis is an extremely rare, chronic and benign deposit disease. It is characterized by hepatosplenomegaly, thrombocytopenia and lymphadenopathy. The presence of ceroid substance in ...
Source: Annales de Pathologie - October 21, 2023 Category: Pathology Authors: M ónica Bronte Anaut Javier Arredondo Montero Source Type: research
Sea-blue histiocytosis
Ann Pathol. 2023 Oct 19:S0242-6498(23)00202-X. doi: 10.1016/j.annpat.2023.10.001. Online ahead of print.ABSTRACTA 78-year-old woman with hypertrophic cardiomyopathy underwent a septal myomectomy and valve replacement. In the immediate postoperative period she developed shock of mixed etiology and died. At autopsy, hepatomegaly and splenomegaly were identified, with PAS and Giemsa positive intracellular ceroid granular deposits. Sea-blue histiocytosis is an extremely rare, chronic and benign deposit disease. It is characterized by hepatosplenomegaly, thrombocytopenia and lymphadenopathy. The presence of ceroid substance in ...
Source: Annales de Pathologie - October 21, 2023 Category: Pathology Authors: M ónica Bronte Anaut Javier Arredondo Montero Source Type: research
Sea-blue histiocytosis
Ann Pathol. 2023 Oct 19:S0242-6498(23)00202-X. doi: 10.1016/j.annpat.2023.10.001. Online ahead of print.ABSTRACTA 78-year-old woman with hypertrophic cardiomyopathy underwent a septal myomectomy and valve replacement. In the immediate postoperative period she developed shock of mixed etiology and died. At autopsy, hepatomegaly and splenomegaly were identified, with PAS and Giemsa positive intracellular ceroid granular deposits. Sea-blue histiocytosis is an extremely rare, chronic and benign deposit disease. It is characterized by hepatosplenomegaly, thrombocytopenia and lymphadenopathy. The presence of ceroid substance in ...
Source: Annales de Pathologie - October 21, 2023 Category: Pathology Authors: M ónica Bronte Anaut Javier Arredondo Montero Source Type: research
An effective treatment in Erdheim Chester disease: vemurafenib: a case report
ConclusionsBRAF V600E mutation is frequently seen in ECD. Vemurafenib plays an active role in targeted therapy. (Source: Journal of Medical Case Reports)
Source: Journal of Medical Case Reports - October 12, 2023 Category: General Medicine Source Type: research
Benign cephalic histiocytosis in a 2 ‐year‐old boy with an inconspicuous clinical presentation at onset
We report on a 2-year-old boy whose initially inconspicuous skin lesions later on evolved into a typical clinical presentation of benign cephalic histiocytosis (BCH). The diagnosis of BCH can often be made on clinical grounds without the need for an extensive diagnostic work-up. Given the benign and self-limited course of the disease treatment is not required and the clinical management can be limited to a watchful waiting approach. (Source: Clinical Case Reports)
Source: Clinical Case Reports - October 11, 2023 Category: General Medicine Authors: Sandra Osorio,
Lucie Harpain,
Karin Jahn ‐Bassler,
Adrian Tanew,
Sonja Radakovic Tags: CASE REPORT Source Type: research
GSE230040 BRAFV600E-induced transcriptional changes in cord blood-derived hematopoietic stem and progenitor cells
Contributors : Tommaso Sconocchia ; Andreas ReinischSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensBRAFV600E is a recurrent mutation in the histiocytoic disorders Langerhans cell histiocytosis (LCH) and Erdheim Chester Disease (ECD). The mutation can be detected in committed monocytes/macrophages, dendritic cells, and hematopoietic stem and progenitor cells (HSPCs). Although the cell of origin that gives rise to these disorders is currently unknown, it was recently suggested that LCH and ECD arise from BRAFV600E-mutant HSPCs. To understand the underlying molecular mechanisms in HS...
Source: GEO: Gene Expression Omnibus - October 9, 2023 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
Arterial Spin-Labeling in the Assessment of Pediatric Nontraumatic Orbital Lesions [PEDIATRICS]
SUMMARY:
Benign and malignant pediatric orbital lesions can sometimes have overlapping features on conventional MR imaging sequences. MR imaging of 27 children was retrospectively reviewed to describe the signal of some common pediatric extraocular orbital lesions on arterial spin-labeling and to evaluate whether this sequence helps to discriminate malignant from benign masses, with or without ADC value measurements. Qualitative and quantitative assessments of arterial spin-labeling CBF and ADC were performed. All lesions were classified into 3 arterial spin-labeling perfusion patterns: homogeneous hypoperfusion (pattern 1...
Source: American Journal of Neuroradiology - October 4, 2023 Category: Radiology Authors: Neumane, S., Lesage, A., Dangouloff-Ros, V., Levy, R., Roux, C.- J., Robert, M. P., Bremond-Gignac, D., Boddaert, N. Tags: PEDIATRICS Source Type: research
Ocular Crystal-Storing Histiocytosis with Co-existing MALT Lymphoma —A Rare Case with Cytologic and Heretofore Not Reported Findings on Frozen Section
ConclusionCSH is a challenging diagnosis to make on frozen section. The artifacts that preclude its recognition, as well as differential diagnoses of this entity in the head and neck are discussed. (Source: Head and Neck Pathology)
Source: Head and Neck Pathology - October 4, 2023 Category: Pathology Source Type: research
Best Approach to a Cavitary Lung Lesion – Update
This is an update of our 2015 article on cavitary lung lesion.1
Case
A 60-year-old man with alcohol use disorder presented to the hospital with fatigue, chest pain, and productive cough for two weeks. Additionally, he endorsed a 20-lb weight loss over the previous month which he attributed to a poor appetite. He lived in the southwestern U.S. and had no recent travel. His initial chest X-ray demonstrated a 3.4-cm left upper lobe cavitary lesion (Figure 1).
Overview
Hospitalists frequently encounter patients with cavitary lung lesions on chest imaging and are often faced with initiating their early workup and management. Ha...
Source: The Hospitalist - October 2, 2023 Category: Hospital Management Authors: Ronda Whitaker Tags: Clinical Clinical Guidelines Pulmonology Source Type: research
Pediatrics, Craniofacial and Orthognathic Surgery Track: Head and Neck Langerhans Cell Histiocytosis in Children
Langerhans Cell Histiocytosis (LCH) is a sporadic myeloid neoplasm with proliferation of dendritic cells1. In the United States, LCH has an estimated annual incidence of approximately 1 per million children2. Controversy exists regarding the management of LCH in the head and neck: debridement, chemotherapy or both. There are few reports describing LCH in the OMS literature. The purpose of this study was to present our experience with LCH of the head and neck in children. (Source: Journal of Oral and Maxillofacial Surgery)
Source: Journal of Oral and Maxillofacial Surgery - October 1, 2023 Category: ENT & OMF Authors: Joyce Xu, Julie Gilbert, Kathryn S. Sutton, Steve L. Goudy, Shelly Abramowicz Source Type: research
The clinical importance of the host anti-tumour reaction patterns in regional tumour draining lymph nodes in patients with locally advanced resectable gastric cancer: a systematic review and meta-analysis
ConclusionsThis systematic review suggests that sinus histiocytosis and paracortical hyperplasia in regional tumour-negative lymph nodes may provide additional prognostic information for gastric and oesophageal cancer patients. Further studies are needed to better understand the lymph node reaction patterns and explore their impact of chemotherapy treatment and immunotherapy efficacy. (Source: Gastric Cancer)
Source: Gastric Cancer - September 30, 2023 Category: Gastroenterology Source Type: research
