Histiocytosis a rare disease
Despite the misery it causes, histiocytosis is too rare a disease to have generated substantial research in medical circles.
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News Stories and Articles
Some of the articles presented on this website are accessed through RSS feeds from third-party sources that are not necessarily sourced by or part of Histio UK. While we try to select appropriate feeds to prevent objectionable content from being displayed, the presence of any article does not indicate endorsement or recommendation by Histio UK.
pubmed: histiocytosis[mesh t...
NCBI: db=pubmed; Term=histiocytosis[MeSH Terms]
A Right Middle Cerebral Artery Infarct After Frontal Eosinophilic Granuloma Resection in an 8-Year-Old Boy with Factor V Leiden.
Turk Neurosurg. 2015;25(5):831-4
Authors: Cakir E, Arslan E, Yazar U, Reis GP
Stroke in children is relatively uncommon. We describe an 8-year-old boy diagnosed with primary eosinophilic granuloma (EG) of the frontal bone. After excision of the EG, the postoperative course was eventful. The patient had an acute right middle cerebral artery (MCA) infarct and had been comatose with a diminished Glasgow Coma Scale (GCS) score of 5. Urgent decompressive hemicraniectomy with duraplasty was performed. The postoperative course after the second operation was uneventful. Hematological tests revealed a diagnosis of factor V Leiden. The patient was discharged with left hemiparesis and GCS of 15. To the best of our knowledge, no such clinical picture of MCA infarction after EG excision has been described before. Neurosurgeons should be aware of inherited thrombophilias, such as factor V Leiden, if the postoperative clinical course worsens because of cerebral artery thrombosis. Also, decompressive hemicraniectomy could be life saving and should be performed urgently without any hesitation.
PMID: 26442559 [PubMed - indexed for MEDLINE]
Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry.
J Allergy Clin Immunol. 2016 Jan;137(1):188-96.e4
Authors: Cetica V, Sieni E, Pende D, Danesino C, De Fusco C, Locatelli F, Micalizzi C, Putti MC, Biondi A, Fagioli F, Moretta L, Griffiths GM, Luzzatto L, Aricò M
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening disease affecting mostly children but also adults and characterized by hyperinflammatory features. A subset of patients, referred to as having familial hemophagocytic lymphohistiocytosis (FHL), have various underlying genetic abnormalities, the frequencies of which have not been systematically determined previously.
OBJECTIVE: This work aims to further our understanding of the pathogenic bases of this rare condition based on an analysis of our 25 years of experience.
METHODS: From our registry, we have analyzed a total of 500 unselected patients with HLH.
RESULTS: Biallelic pathogenic mutations defining FHL were found in 171 (34%) patients; the proportion of FHL was much higher (64%) in patients given a diagnosis during the first year of life. Taken together, mutations of the genes PRF1 (FHL2) and UNC13D (FHL3) accounted for 70% of cases of FHL. Overall, a genetic diagnosis was possible in more than 90% of our patients with FHL. Perforin expression and the extent of degranulation have been more useful for diagnosing FHL than hemophagocytosis and the cytotoxicity assay. Of 281 (56%) patients classified as having "sporadic" HLH, 43 had monoallelic mutations in one of the FHL-defining genes. Given this gene dosage effect, FHL is not strictly recessive.
CONCLUSION: We suggest that the clinical syndrome HLH generally results from the combined effects of an exogenous trigger and genetic predisposition. Within this combination, different weights of exogenous and genetic factors account for the wide disease spectrum that ranges from HLH secondary to severe infection to FHL.
PMID: 26342526 [PubMed - indexed for MEDLINE]
MicroRNA activation signature in patients with hemophagocytic lymphohistiocytosis and reversibility with disease-specific therapy.
J Allergy Clin Immunol. 2016 Jan;137(1):309-12
Authors: Sumegi J, Nestheide S, Aronow B, Fletcher D, Keddache M, Villanueva J, Zhang K, Filipovich AH
PMID: 26194545 [PubMed - indexed for MEDLINE]
Disseminated histiocytoses biomarkers beyond BRAFV600E: frequent expression of PD-L1.
Oncotarget. 2015 Aug 14;6(23):19819-25
Authors: Gatalica Z, Bilalovic N, Palazzo JP, Bender RP, Swensen J, Millis SZ, Vranic S, Von Hoff D, Arceci RJ
The histiocytoses are rare tumors characterized by the primary accumulation and tissue infiltration of histiocytes and dendritic cells. Identification of the activating BRAFV600E mutation in Erdheim-Chester disease (ECD) and Langerhans cell histiocytosis (LCH) cases provided the basis for the treatment with BRAF and/or MEK inhibitors, but additional treatment options are needed. Twenty-four cases of neoplastic histiocytic diseases [11 extrapulmonary LCH, 4 ECD, 4 extranodal Rosai-Dorfman disease (RDD), 3 follicular dendritic cell sarcoma (FDCS), 1 histiocytic sarcoma (HS) and 1 blastic plasmacytoid dendritic cell neoplasm (BPDCN)] were analyzed using immunohistochemical and mutational analysis in search of biomarkers for targeted therapy. BRAF V600E mutations were detected in 4/11 LCH and 4/4 ECD cases. A pathogenic PTEN gene mutation and loss of PTEN protein expression were identified in the case of HS. Increased expression of PD-L1 (≥2+/≥5%) was seen in 3/4 ECD, 7/8 LCH, 3/3 FDCS and 1/1 HS, with overall 81% concordance between 2 antibodies used in the study (SP142 vs. MAB1561 clone). These results show for the first time significant expression of the PD-L1 immune checkpoint protein in these disorders, which may provide rationale for addition of immune check-point inhibitors in treatment of disseminated and/or refractory histiocytoses.
PMID: 26110571 [PubMed - indexed for MEDLINE]
The many faces of Pulmonary Langerhans Cell Histiocytosis.
Sarcoidosis Vasc Diffuse Lung Dis. 2014;31(3):244-8
Authors: Biswas A, Donahoe M
Langerhans Cell Histiocytosis is a rare disease with variable presentation and prognosis in adults and in children. Histiocytosis of the ocular choroidal tissue has never been reported before in adults. We present two cases, one with choroidal involvement with asymptomatic nodulo-cystic changes in the lungs and another case with advanced single organ pulmonary involvement. We discuss the various treatment modalities and highlight the lack of adequate guidelines to treat adults. Most of the current guidelines are based on evidence derived from pediatric literature. We would also like to draw attention to the asymptomatic nature of the lung involvement and suggest that imaging of the lung be obtained in all cases of Langerhans Cell Histiocytosis.
PMID: 25363226 [PubMed - indexed for MEDLINE]
Hemophagocytic Syndrome and Critical Illness: New Insights into Diagnosis and Management.
J Intensive Care Med. 2015 Oct;30(7):401-12
Authors: Tothova Z, Berliner N
Hemophagocytic lymphohistiocytosis (HLH) comprises a heterogeneous group of diseases that are characterized by a hyperinflammatory state due to uncontrolled T cell, macrophage, and histiocyte activation, accompanied by excessive cytokine production. This rare condition is almost uniformly fatal unless promptly recognized and treated. Much progress has been made in the last two decades in our understanding of the mechanisms underlying familial, and to a lesser extent, acquired cases of HLH. Recurrent mutations in more than 10 different genes have now been identified, involving biological pathways converging on intracellular vesicle trafficking and cytolytic granule exocytosis. Mechanisms underlying the majority of patients with acquired HLH, however, remain elusive, hampering both diagnostic evaluation and therapeutic management of these patients. Given that the majority of intensive care unit (ICU) patients with sepsis or multiorgan failure share many features of HLH, it is especially critical for pediatric and adult intensivists to be able to recognize patients with bona fide HLH and initiate treatment without delay. In this article, we review our current understanding of the pathophysiology, clinical testing, diagnosis, and treatment of patients with HLH, especially as it pertains to the care of critically ill patients in pediatric and medical ICUs.
PMID: 24407034 [PubMed - indexed for MEDLINE]
Hypopituitarism, pulmonary infiltration and a spontaneously resolving occipital mass.
QJM. 2015 Feb;108(2):147-9
Authors: Annamalai AK, Powlson AS, Kandasamy N, Lodge K, Graggaber J, Halsall DJ, Antoun NM, Cheow HK, Buttery PC, George E, Griffiths M, Price SJ, Pickard JD, Sivasothy P, Gurnell M
PMID: 22855287 [PubMed - indexed for MEDLINE]
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