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American Journal of Hematology Feb 2022Adult Langerhans cell histiocytosis (LCH) remains poorly defined. We retrospectively studied 266 newly diagnosed LCH patients to understand the clinical presentation,...
Adult Langerhans cell histiocytosis (LCH) remains poorly defined. We retrospectively studied 266 newly diagnosed LCH patients to understand the clinical presentation, treatment, and prognosis of adult LCH. The median age at diagnosis was 32 years (range, 18-79 years). At the time of diagnosis, 40 patients had single lesions within a single system, 18 patients had single pulmonary LCH, 26 patients had multiple lesions within a single system (SS-m), and 182 patients had multisystem disease (MS). The most common organ involved in MS patients was the bone (69.8%), followed by the pituitary (61.5%) and lung (61.0%). BRAF , BRAF deletion, and MAP2K1 mutation were detected in 38.8%, 25.4%, and 19.4% patients, respectively. BRAF deletion was found more common in patients with MS LCH compared to single-system LCH (38.5% vs 7.1%, p = .004), also in patients with liver involvement (69.2% vs 14.3%, p < .001). The estimated 3-year overall survival (OS) and event-free survival (EFS) rates were 94.4% and 54.7%, respectively, in SS-m and MS LCH. Multivariate Cox regression showed that involvement of the liver or spleen at baseline predicted poor EFS and receiving cytarabine-based therapy as a first-line treatment and age older than 30 years at diagnosis predicted favorable EFS. The involvement of risk organs and age older than 50 years predicted poor OS, and receiving cytarabine-based therapy predicted favorable OS. Therefore, BRAF deletion was correlated with MS LCH, particularly those with liver involvement. Liver or spleen involvement at baseline indicates a poor prognosis, and a cytarabine-based regimen could be considered as first-line treatment for adult LCH patients.
Topics: Adult; Aged; Cytarabine; Female; Histiocytosis, Langerhans-Cell; Humans; Immunosuppressive Agents; Male; Middle Aged; Prognosis; Retrospective Studies; Survival Analysis; Treatment Outcome; Young Adult
PubMed: 34797941
DOI: 10.1002/ajh.26412 -
Indian Pediatrics Mar 2022
Topics: Bone Neoplasms; Child; Histiocytosis, Langerhans-Cell; Humans; Osteosarcoma
PubMed: 35315351
DOI: No ID Found -
Endocrine Journal Apr 2022Langerhans cell histiocytosis (LCH) is a multi-organ disorder that rarely involves the hypothalamic-pituitary region (HPR). HPR-LCH presents with severe progressive...
Langerhans cell histiocytosis (LCH) is a multi-organ disorder that rarely involves the hypothalamic-pituitary region (HPR). HPR-LCH presents with severe progressive pituitary dysfunction and its prognosis is poor. The definitive diagnosis of LCH is considerably difficult and complicated owing to the occurrence of several diseases with similar manifestations in the HPR and its location in the deepest portion of the anterior skull base, in close proximity to important normal structures, severely limiting the size of the biopsy specimen. Chemotherapy is the established treatment modality for LCH; hence, timely and accurate diagnosis of LCH is essential for early therapeutic intervention. We retrospectively reviewed clinical features and biopsy procedures in four patients with HPR-LCH (all female, 28-44 years old) from 2009 to 2020. Maximum diameter of supra-sellar lesions was 23-35 mm and 2 cases had skip lesions. All patients demonstrated central diabetes insipidus, hyper-prolactinemia, and severe anterior pituitary dysfunction. Two of the patients had progressive disease. Furthermore, four patients presented body weight gain, two visual disturbance, and two impaired consciousness. The duration from onset to diagnosis of LCH was 3 to 10 (average 7.25) years. In total, eight operations were performed until final diagnosis. The percentage of correct diagnosis by biopsy was 50% (4/8). Clinical features of HPR-LCH are very similar to those of other HPR diseases, and their symptoms are progressive and irreversible. Clinicians should consider repeated biopsy with a more aggressive approach if the lesion is refractory to steroid therapy, in order to ensure accurate diagnosis and appropriate treatment.
Topics: Adult; Female; Histiocytosis, Langerhans-Cell; Humans; Hypothalamic Diseases; Magnetic Resonance Imaging; Male; Pituitary Diseases; Pituitary Gland; Retrospective Studies
PubMed: 34776469
DOI: 10.1507/endocrj.EJ21-0341 -
Zhong Nan Da Xue Xue Bao. Yi Xue Ban =... Mar 2022Pulmonary Langerhans cell histiocytosis (PLCH) is a clonal disease, characterized by proliferation of Langerhans cells that derived from bone marrow infiltrating the... (Review)
Review
OBJECTIVES
Pulmonary Langerhans cell histiocytosis (PLCH) is a clonal disease, characterized by proliferation of Langerhans cells that derived from bone marrow infiltrating the lungs and other organs. Due to the rarity of the disease, the current understanding of the disease is insufficient, often misdiagnosed or missed diagnosis. This study aims to raise clinicians' awareness for this disease via summarizing the clinical characteristics, imaging features, and treatment of PLCH.
METHODS
We retrospectively analyzed clinical and follow-up data of 15 hospitalized cases of PLCH from September 2012 to June 2021 in the Second Xiangya Hospital of Central South University.
RESULTS
The age of 15 patients (9 men and 6 women, with a sex ratio of 3 to 2) was 21-52 (median 33) years. Among them, 8 had a history of smoking and 5 suffered spontaneous pneumothorax during disease course. There were 3 patients with single system PLCH and 12 patients with multi-system PLCH, including 7 patients with pituitary involvement, 7 patients with lymph node involvement, 6 patients with bone involvement, 5 patients with liver involvement, 2 patients with skin involvement, 2 patients with thyroid involvement, and 1 patients with thymus involvement. The clinical manifestations were varied but non-specific. Respiratory symptoms mainly included dry cough, sputum expectoration, chest pain, etc. Constitutional symptoms included fever and weight loss. Patients with multi-system involvement experienced symptoms such as polyuria-polydipsia, bone pain, and skin rash. All patients were confirmed by pathology, including 6 by lung biopsy, 3 by bone biopsy, 2 by lymph node biopsy, and 4 by liver, skin, suprasternal fossa tumor, or pituitary stalk biopsy. The most common CT findings from this cohort of patients were nodules and/or cysts and nodular and cystic shadows were found in 7 patients. Three patients presented simple multiple cystic shadows, 3 patients presented multiple nodules, and 2 patients presented with single nodules and mass shadows. Pulmonary function tests were performed in 4 patients, ventilation dysfunction was showed in 2 patients at the first visit. Pulmonary diffusion function tests were performed in 4 patients and showed a decrease in 3 patients. Smoking cessation was recommended to PLCH patients with smoking history. Ten patients received chemotherapy while 2 patients received oral glucocorticoid therapy. Among the 11 patients with the long-term follow-up, 9 were in stable condition.
CONCLUSIONS
PLCH is a neoplastic disease closely related to smoking. The clinical manifestations and laboratory examination are not specific. Pneumothorax could be the first symptom which is very suggestive of the disease. Definitive diagnosis relies on histology. There is no unified treatment plan for PLCH, and individualized treatment should be carried out according to organ involvement. Early smoking cessation is essential. Chemotherapy is the main treatment for rapidly progressing PLCH involved multiple organs. All diagnosed patients can be considered for the detection of gene and relevant targeted therapies have been implemented recently.
Topics: Adult; Cysts; Female; Histiocytosis, Langerhans-Cell; Humans; Lung; Male; Retrospective Studies; Smoking; Smoking Cessation
PubMed: 35545326
DOI: 10.11817/j.issn.1672-7347.2022.210581 -
Asian Journal of Surgery Jul 2022
Topics: Chest Pain; Histiocytosis, Langerhans-Cell; Humans; Sternum
PubMed: 35277320
DOI: 10.1016/j.asjsur.2022.02.038 -
Indian Journal of Dermatology,... 2021
Topics: Dermatologic Agents; Female; Glucocorticoids; Histiocytosis, Langerhans-Cell; Humans; Methotrexate; Middle Aged; Perineum; Prednisolone; Vulvar Diseases
PubMed: 33580924
DOI: 10.25259/IJDVL_399_20 -
Hematology/oncology Clinics of North... Oct 2015Langerhans cell histiocytosis (LCH) is heterogeneous disease characterized by common histology of inflammatory lesions containing Langerin(+) (CD207) histiocytes.... (Review)
Review
Langerhans cell histiocytosis (LCH) is heterogeneous disease characterized by common histology of inflammatory lesions containing Langerin(+) (CD207) histiocytes. Emerging data support a model in which MAPK activation in self-renewing hematopoietic progenitors may drive disseminated high-risk disease, whereas MAPK activation in more differentiated committed myeloid populations may induce low-risk LCH. The heterogeneous clinical manifestations with shared histology may represent the final common pathway of an acquired defect of differentiation, initiated at more than one point. Implications of this model include re-definition of LCH as a myeloid neoplasia and re-focusing therapeutic strategies on the cells and lineages of origin.
Topics: Animals; Cell Differentiation; Cell Lineage; Dendritic Cells; Histiocytosis, Langerhans-Cell; Humans
PubMed: 26461145
DOI: 10.1016/j.hoc.2015.06.003 -
Indian Journal of Ophthalmology Aug 2020To describe the clinical spectrum and management outcomes of Langerhans cell histiocytosis (LCH) involving the orbit.
PURPOSE
To describe the clinical spectrum and management outcomes of Langerhans cell histiocytosis (LCH) involving the orbit.
METHODS
Retrospective review of patients with orbital LCH presenting at the Sankara Nethralaya, Chennai, India, over the past 15 years. Demographic details, presenting features, radiology, histopathology, immunohistochemistry, and management outcomes were analyzed.
RESULTS
Nine patients were reviewed. The mean age of presentation was 10.12 ± 14.31 years (range: 6 weeks to 35 years). Eyelid swelling was the most common presenting feature (4, 44.4%), followed by proptosis (3, 33.3%). The mean duration of the presentation was 2.21 ± 2.77 months. Radiological investigations revealed orbital roof osteolytic defects in six (66.6%) patients. Six patients underwent near-complete excision of the mass while three underwent incisional biopsy. Histopathology revealed histiocytes with nuclear grooving and numerous eosinophils characteristic of LCH. The cells were positive for CD1a and S 100 antigens. None of the patients had any systemic involvement. Three received systemic steroids and four received systemic chemotherapy. At a mean follow-up of 17.85 ± 23.46 months, all had complete remission without any signs of recurrence. One patient was lost to follow-up after near-complete excision while one adult patient with a mass in the intraconal space had no recurrence after near-complete excision.
CONCLUSION
LCH is a rare disorder of the orbit that commonly occurs in children and should be considered a differential for osteolytic lesions involving the orbit. All patients should undergo a systemic evaluation to rule out multifocal disease. The treatment depends upon disease extent and risk factors.
Topics: Adult; Child; Histiocytosis, Langerhans-Cell; Humans; India; Infant; Orbit; Orbital Diseases; Retrospective Studies
PubMed: 32709787
DOI: 10.4103/ijo.IJO_1375_19 -
Molecular and oral manifestations of langerhans cell histiocytosis preceding acute myeloid leukemia.BMC Oral Health Sep 2022Langerhans cell histiocytosis (LCH) is a heterogeneous neoplastic disorder that is rarely seen in patients aged 60 years and older. It is reported that elderly patients...
BACKGROUND
Langerhans cell histiocytosis (LCH) is a heterogeneous neoplastic disorder that is rarely seen in patients aged 60 years and older. It is reported that elderly patients with LCH have a higher chance of having malignancies. In the oral cavity, patients with LCH can present with mucosal ulcers and extensive osteolysis, making it difficult for clinicians to make a proper diagnosis.
CASE PRESENTATION
We reported an 82-year-old Chinese woman with oral symptoms as the first presentation of LCH, and eventually developed acute myeloid leukemia (AML). She suffered diffuse ulcers involving the entire gingival mucosa and the left half hard palate, and had lost several teeth. Genomic DNA sequencing of the cells from LCH revealed multiple mutations in TET2, BRAF, SRSF2, NRAS, MAP2K4 and so on. The patient declined the BRAF inhibitor (Vemurafenib). Although a dramatic improvement of the oral ulcers was achieved after symptomatic treatment, the patient developed acute myeloid leukemia (AML) and died.
CONCLUSIONS
This report presented the diagnostic difficulties of LCH with oral manifestations and highlighted the importance of radiological assessments and laboratory tests. Moreover, many of the mutations detected in our LCH patient are frequently seen in AML, suggesting that AML and LCH cells in this patient share the same origin.
Topics: Aged; Aged, 80 and over; Female; Histiocytosis, Langerhans-Cell; Humans; Leukemia, Myeloid, Acute; Middle Aged; Mutation; Proto-Oncogene Proteins B-raf; Ulcer
PubMed: 36064398
DOI: 10.1186/s12903-022-02410-z -
The British Journal of Cancer.... Sep 1994As a rare, sporadic disease Langerhans cell histiocytosis (LCH) presents a difficult problem in defining a likely etiology. Epidemiological data would not a priori lead... (Review)
Review
As a rare, sporadic disease Langerhans cell histiocytosis (LCH) presents a difficult problem in defining a likely etiology. Epidemiological data would not a priori lead one to choose a viral etiology. However, there are rare tumours which occur as sequelae of common infections from Epstein-Barr virus or human papilloma viruses. Likewise some viruses can cause cells to elaborate cytokines which could ultimately stimulate Langerhans cell growth. There is only a small amount of experimental data testing the hypothesis that viruses might be associated with LCH. The theoretical constructs surrounding this question and new data refuting the association are summarised.
Topics: Adenoviridae; Cytomegalovirus; DNA, Viral; Deltaretrovirus; HIV; Herpesvirus 4, Human; Histiocytosis, Langerhans-Cell; Humans; In Situ Hybridization; Parvovirus; Simplexvirus
PubMed: 8075003
DOI: No ID Found