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Langerhans cell histiocytosis

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https://www.readbyqxmd.com/read/28220299/molecular-analysis-of-braf-v600e-mutation-in-multiple-nodules-of-pulmonary-langerhans-cell-histiocytosis
#1
Arno Dimmler, Helene Geddert, Martin Werner, Gerhard Faller
Pulmonary Langerhans cell histiocytosis (PLCH) is a rare, smoking-related histiocytic disorder with variable clinical symptoms. Like in other non-pulmonary Langerhans cell proliferations, PLCH has recently been shown to harbour BRAF V600E mutations in a significant subset of cases, thus challenging the concept of PLCH being a reactive disorder. Here, we analysed 38 formalin-fixed and paraffin-embedded PLCH nodules of nine patients for BRAF mutation using two different molecular methods. Using pyrosequencing and allele-specific quantitative PCR (AS-PCR), BRAF V600E mutations were found in 16/38 (42%) and 31/37 (84%) nodules, respectively...
February 20, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28219109/the-use-of-braf-v600e-mutation-specific-immunohistochemistry-in-pediatric-langerhans-cell-histiocytosis
#2
Leomar Y Ballester, Miguel D Cantu, Karen P H Lim, Stephen F Sarabia, Lizmery Suarez Ferguson, C Renee Webb, Carl E Allen, Kenneth L McClain, Carrie A Mohila, Jyotinder N Punia, Angshumoy Roy, Dolores H López-Terrada, M John Hicks, Kevin E Fisher
BRAF p.V600E mutations are detected in greater than 50% of pediatric Langerhans cell histiocytosis (LCH) lesions. However, the use of mutation-specific BRAF V600E immunohistochemistry (IHC) as a surrogate for molecular testing in pediatric LCH is unknown. We tested the mutation-specific BRAF V600E monoclonal antibody (clone VE1) in formalin-fixed, paraffin-embedded LCH samples from 26 pediatric patients (14 males and 12 females, ages 7 mo-17 y) using allele-specific real-time polymerase chain reaction (PCR) with a limit of detection of 0...
February 20, 2017: Hematological Oncology
https://www.readbyqxmd.com/read/28217022/a-unique-case-of-increased-18f-fdg-metabolic-activity-in-the-soft-tissues-of-the-bilateral-upper-thighs-due-to-immunizations-in-a-pediatric-patient
#3
Terrel L Galloway, Mickaila J Johnston, Michael D Starsiak, Eugene D Silverman
A case of a 7-month-old white female who was referred for 18F-fluorodeoxyglucose (FDG) Positron emission tomography/computed tomography (PET/CT) initial evaluation of a lytic skull lesion with presumed diagnosis of Langerhans cell histiocytosis is described. Incidentally, she was found to have hypermetabolic nodules in the soft tissues of her anterior thighs.
January 2017: World Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/28214412/histiocytoses-emerging-neoplasia-behind-inflammation
#4
REVIEW
Julien Haroche, Fleur Cohen-Aubart, Barret J Rollins, Jean Donadieu, Frédéric Charlotte, Ahmed Idbaih, Augusto Vaglio, Omar Abdel-Wahab, Jean-François Emile, Zahir Amoura
Histiocytoses are disorders characterised by inflammation and the accumulation of cells derived from the monocyte and macrophage lineages, which results in tissue damage. Although they are often considered rare disorders with protean clinical manifestations, considerable advances in the understanding of their genetics have led to increased clinical recognition of these conditions, and fuelled further insights into their pathogenesis. In this Review, we describe insights into the cells of origin, molecular pathology, clinical features, and treatment strategies for some of the most common histiocytic disorders, including Langerhans cell histiocytosis, Erdheim-Chester disease, and Rosai-Dorfman disease...
February 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28207278/adult-langerhans-cell-histiocytosis-masquerading-as-hidradenitis-suppurativa
#5
Jason Chertoff, Julian Chung, Ali Ataya
N/A - Images.
February 16, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28196316/common-skin-conditions-in-children-neonatal-skin-lesions
#6
Brian Z Rayala, Dean S Morrell
Skin findings during the initial month of life are ubiquitous. One study estimated that more than 95% of newborns have cutaneous findings, which often are distressing to parents but frequently are benign and self-limited. Among them are milia, cutis marmorata, congenital dermal melanocytosis, and the benign neonatal pustular eruptions (eg, benign cephalic pustulosis, erythema toxicum neonatorum, transient neonatal pustular melanosis). Clinicians need to recognize these benign skin conditions and differentiate them from more serious conditions, such as infectious pustular eruptions from bacterial, viral, and fungal causes, and inflammatory conditions, such as Langerhans cell histiocytosis...
February 2017: FP Essentials
https://www.readbyqxmd.com/read/28194436/real-time-genomic-profiling-of-histiocytoses-identifies-early-kinase-domain-braf-alterations-while-improving-treatment-outcomes
#7
Lynn H Lee, Anjelika Gasilina, Jayeeta Roychoudhury, Jason Clark, Francis X McCormack, Joseph Pressey, Michael S Grimley, Robert Lorsbach, Siraj Ali, Mark Bailey, Philip Stephens, Jeffrey S Ross, Vincent A Miller, Nicolas N Nassar, Ashish R Kumar
Many patients with histiocytic disorders such as Langerhans cell histiocytosis (LCH) or Erdheim-Chester disease (ECD) have treatment-refractory disease or suffer recurrences. Recent findings of gene mutations in histiocytoses have generated options for targeted therapies. We sought to determine the utility of prospective sequencing of select genes to further characterize mutations and identify targeted therapies for patients with histiocytoses. Biopsies of 72 patients with a variety of histiocytoses underwent comprehensive genomic profiling with targeted DNA and RNA sequencing...
February 9, 2017: JCI Insight
https://www.readbyqxmd.com/read/28186860/traumatic-rib-injury-patterns-imaging-pitfalls-complications-and-treatment
#8
Brett S Talbot, Christopher P Gange, Apeksha Chaturvedi, Nina Klionsky, Susan K Hobbs, Abhishek Chaturvedi
The ribs are frequently affected by blunt or penetrating injury to the thorax. In the emergency department setting, it is vital for the interpreting radiologist to not only identify the presence of rib injuries but also alert the clinician about organ-specific injury, specific traumatic patterns, and acute rib trauma complications that require emergent attention. Rib injuries can be separated into specific morphologic fracture patterns that include stress, buckle, nondisplaced, displaced, segmental, and pathologic fractures...
February 10, 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28182116/effective-braf-inhibitor-vemurafenib-therapy-in-a-2-year-old-patient-with-sequentially-diagnosed-langerhans-cell-histiocytosis-and-erdheim-chester-disease
#9
Zsófia Váradi, Rita Bánusz, Judit Csomor, Krisztián Kállay, Edit Varga, Gabriella Kertész, Monika Csóka
Erdheim-Chester disease (ECD) is a rare histiocytic disorder, characterized by the xanthomatous infiltration of tissues by CD68-positive and CD1a-/CD100-negative foamy histiocytes. In childhood, ECD is exceptionally rare, and only a dozen cases have been published so far. The cooccurence of Langerhans cell histiocytosis (LCH) and ECD is even rarer. Here, we report a 2-year-old boy, the youngest patient in the literature so far, who was diagnosed with concomitant BRAF mutation-positive LCH and ECD. In his case, conventional LCH treatment proved to be ineffective, but he is the youngest patient who was successfully treated with the BRAF inhibitor vemurafenib...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28181270/orbital-cellulitis-as-the-initial-presentation-of-langerhans-cell-histiocytosis-in-an-adult-patient
#10
Avash Das, Arjun Gupta, Harris Vk Naina
No abstract text is available yet for this article.
February 9, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28166093/cutaneous-involvement-in-adult-multisystemic-langerhans-cell-histiocytosis-successfully-treated-with-pulsed-dye-laser
#11
Ximena Calderón-Castrat, Monica Roncero-Riesco, María T Alonso-San Pablo, Ángel Santos-Briz, Emilia Fernández-López
No abstract text is available yet for this article.
February 3, 2017: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
https://www.readbyqxmd.com/read/28149747/an-unusual-thoracic-localizations-of-erdheim-chester-disease-a-case-report
#12
C Massaccesi, S Colella, F Fioretti, V D'Emilio, G Panella, G Primomo, F Barbisan, R Pela, V Poletti
Erdheim- Chester disease is a rare non- Langerhans cell histiocytosis that usually involves the bones, heart, central nervous system, retroperitoneum, eyes, kidneys, skin and adrenals. Lungs are affected in up to one-half cases; at CT scan various patterns are described: interstitial disease, consolidations, micronodules and microcysts, with or without pleural involvement. We presented a case of a 59 year-old man with unusual intrathoracic manifestation of Erdheim- Chester disease. Singularities of our report are the lonely thoracic involvement at the onset of the disease and a histiocytic lesion in the posterior mediastinum...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28149092/isolated-sphenoid-sinus-lesions-experience-with-a-few-rare-pathologies
#13
Nishanth Sadashiva, B N Nandeesh, Dhaval Shukla, Dhananjaya Bhat, Sampath Somanna, Bhagavatula Indira Devi
INTRODUCTION: The sphenoid sinus is often neglected because of its difficult access. The deep position of the sphenoid sinus hinders early diagnosis of pathologies in that location. Delayed diagnosis can cause serious complications due to proximity to many important structures. OBJECTIVES: The aim of this study is to demonstrate different pathologies which can affect the sphenoid sinus and elucidate the findings. METHODS: Cases of isolated sphenoid sinus lesions encountered in the neurosurgical setting which had rare pathologies are discussed...
January 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28123731/bone-langerhans-cell-histiocytosis-with-pulmonary-involvement-in-an-adult-non-smoker-a-case-report-and-brief-review-of-the-literature
#14
Jie Shen, Shicheng Feng
Langerhans cell histiocytosis (LCH) is a rare disease of unknown cause, which encompasses a set of disorders of multiple organs with various clinical presentations that share the common characteristic of sizeable Langerhans cell infiltration. The clinical spectrum of LCH ranges from solitary bone lesions to involvement of other organs. lung involvement in LCH may be part of a multisystem disease, which almost exclusively occurs in adult smokers, while it is overlooked or misdiagnosed in the majority of non-smokers...
January 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28099400/cns-directed-prophylactic-approach-to-langerhans-cell-histiocytosis
#15
Shinsaku Imashuku, Yoko Shioda, Akira Morimoto
No abstract text is available yet for this article.
January 17, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28099396/successful-treatment-of-refractory-langerhans-cell-histiocytosis-of-the-choroid-plexus-in-a-child-with-pulse-dexamethasone-and-lenalidomide
#16
Ramya Uppuluri, Sreejith Ramachandrakurup, Ravikanth Balaji, Divya Subburaj, Atish Bakane, Revathi Raj
Refractory/relapsed Langerhans cell histiocytosis (LCH) has a difficult course with a guarded prognosis. Salvage treatments available are both expensive and highly toxic. On the basis of the pathophysiology of LCH, we used a novel protocol including pulse dexamethasone and lenalidomide in a child with refractory LCH involving the choroid plexus, which resulted in durable remission with minimal toxicity. The protocol was extrapolated from the FIRST trial for patients with multiple myeloma. We present the clinical course, treatment protocol, and outcome in this child, who is at present disease free and in remission 18 months posttreatment...
March 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28097846/-solitary-and-congenital-juvenile-xanthogranuloma-case-report
#17
Leticia Lazarte, Paola C Stefano, Marcela Bocian, Verónica Solernou, Adrián Martín Pierini, Andrea Bettina Cervini
Juvenile xanthogranuloma is a bening pathology and it represents the most common form of non-Langerhans cell histiocytosis. It is characterized by the presence of papules or firm nodules of a pinkish or yellow-brownish nature, which mainly compromise the skin and, exceptionally, other organs. It is a self-limited entity having a spontaneous regression during the first five years of life. We report the case of a one-month-old patient who presented a congenital tumor in the abdomen, whose histopathology showed the presence of multinucleated giant Touton cells, which are typical of this pathology...
1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28095017/spectrum-of-xanthogranulomatous-processes-in-the-abdomen-and-pelvis-a-pictorial-review-of-infectious-inflammatory-and-proliferative-responses
#18
Kelsey S Bourm, Christine O Menias, Kamran Ali, Kinan Alhalabi, Khaled M Elsayes
OBJECTIVE: Xanthogranulomatous (XG) processes are rare inflammatory conditions with the characteristic pathologic feature of lipid-laden macrophages or histiocyte cells. Imaging findings are nonspecific and can simulate aggressive neoplastic processes. XG processes can be caused by infection, inflammation, histolytic process, or an inherited lysosomal disorder. XG infectious processes are mainly seen in cholecystitis and pyelonephritis, but several other organs can also be involved. Histiocytic processes can be divided into Langerhans and non-Langerhans cell histiocytosis...
January 17, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28087208/-child-langerhans-cell-histiocytosis
#19
REVIEW
Jean Donadieu, Sébastien Héritier
DEFINITION: Langerhans cell histiocytosis (LCH) is defined by the association of a clinical and radiological involvement and a biopsy of a pathological tissue. Extension: it can affect any organ or system of the body but most commonly the bone (80% of cases), the skin (33%) and the pituitary (25%). Other organs are concerned such as liver, spleen, hematopoietic system and the lungs (15% each), lymph nodes (5-10%) and central nervous system (CNS) excluding the pituitary (2-4%). Natural history: the natural history of the disease is very heterogeneous, ranging from auto-regressive lesions to a disease affecting multiple organs with fatal consequences, while some lesions may be responsible for permanent sequels...
January 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28087041/dermoscopy-of-langerhans-cell-histiocytosis
#20
Biswanath Behera, Munisamy Malathi, Nagendran Prabhakaran, Kamat Divya, Devinder Mohan Thappa, Bheemanathi Hanuman Srinivas
No abstract text is available yet for this article.
February 2017: Journal of the American Academy of Dermatology
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