Craniospinal Langerhans cell histiocytosis in children: 30 years' experience at a single institution

2008 ◽  
Vol 1 (3) ◽  
pp. 187-195 ◽  
Author(s):  
Laurence Davidson ◽  
J. Gordon McComb ◽  
Ira Bowen ◽  
Mark D. Krieger
Keyword(s):  
Bone Disease ◽  
Langerhans Cell Histiocytosis ◽  
Young Patients ◽  
Multiple Organ ◽  
Langerhans Cell ◽  
Bone Lesions ◽  
Neurosurgical Department ◽  
Hypothalamic Pituitary Axis ◽  
Multifocal Disease

Object The goal of this study was to review a large series of patients with Langerhans cell histiocytosis (LCH) who had craniospinal lesions to assess the long-term course, outcome, and efficacy of treatment of the disease. Methods Forty-four patients with LCH who presented to a single pediatric neurosurgical department between 1976 and 2006 were retrospectively reviewed. Results This series included 29 boys and 15 girls, ranging in age from 2 months to 13 years, with a mean follow-up duration of 4.5 years. Twenty-seven patients (61%) had unifocal bone lesions, 12 (27%) had multifocal bone disease, 2 (5%) had solitary hypothalamic–pituitary axis lesions, and 3 (7%) had multiple organ involvement at presentation. Five (19%) of the 27 patients with unifocal bone disease and 4 (33%) of the 12 patients with multifocal bone disease had delayed development of new bone lesions during the follow-up period. The time to development of new bone lesions ranged from 1 month to 1 year. Two of the 3 patients with multiple-organ LCH died. Patient age ≤ 2 years at the time of initial presentation was a risk factor for both initial multifocality and eventual dissemination. In all patients with initial multifocal bone involvement or later dissemination of unifocal bone disease, LCH was controlled by chemotherapy, except for 2 who were treated by surgery alone. Three patients had histological evidence of spontaneous resolution of their lesions. Conclusions Patients with unifocal LCH can be effectively treated with surgery alone. Very young patients are more likely to have multifocal disease and disseminations, and will usually require chemotherapy to control their disease. Spontaneously regressing lesions need not be resected; however, a biopsy procedure can be performed for diagnostic purposes.

Langerhans Cell Histiocytosis Mimicking Malignancy: A Radiological Appraisal

1996 ◽  
Vol 82 (6) ◽  
pp. 603-609 ◽  
Author(s):  
Paolo Potepan ◽  
John David Tesoro-Tess ◽  
Alberto Laffranchi ◽  
Gian Maria Danesini ◽  
Cristina Gianni ◽  
...  
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Soft Tissues ◽  
Plain Film ◽  
Langerhans Cell ◽  
Bone Lesions ◽  
Imaging Data ◽  
Long Term Follow Up ◽  
Clinical Records

Aims To analyze the radiologic characteristics, clinical course and long-term follow-up of 7 radiologically uncommon pediatric cases of Langerhans cell histiocytosis and to identify prognostic factors related to imaging patterns. Methods The clinical records and complete imaging data of 75 patients with LCH diagnosed and treated at the National Cancer Institute of Milan between January 1975 and December 1993 were analyzed, and 43 cases presenting as unifocal bone lesions were identified. The plain film, computed tomography and magnetic resonance characteristics enabled the identification of 7 radiologically aggressive and rapidly progressive cases, which were analyzed at presentation and during follow-up. Results Although at disease presentation bone lesions appeared lytic destructive, rapidly progressive and often involved adjacent soft tissues, after adequate therapy the disease course was invariably benign and led to almost complete restoration of normal structure and function. Long-term follow-up confirmed the favorable outcome and lack of disease recurrence in all cases. Conclusions There is no correlation between radiologically aggressive characteristics and final outcome in Langerhans cell histiocytosis. Radiologists and pediatric oncologists should be acquainted with less common radiologic forms which, at presentation, can mimic more ominous diseases. If recognized and adequately treated, monostotic forms almost invariably have a benign prognosis.

scholarly journals Disease Characteristics and Treatment of Adult Langerhans Cell Histiocytosis: A Single Center Experience

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 4315-4315
Author(s):  
Jason Signorelli ◽  
Sowmya Ravulapati ◽  
Jay L Patel ◽  
Michael W. Deininger ◽  
Srinivas K. Tantravahi
Keyword(s):  
High Risk ◽  
Systemic Therapy ◽  
Langerhans Cell Histiocytosis ◽  
Systemic Chemotherapy ◽  
Langerhans Cell ◽  
Bone Lesions ◽  
Single Center ◽  
First Line ◽  
Single Center Experience

Abstract Introduction: Langerhans cell histiocytosis (LCH) is a clonal neoplastic disorder of CD1a/CD207 positive myeloid dendritic cells with broad clinical spectrum ranging from focal self-limited disease (single system LCH, SS-LCH) to aggressive multisystem disease (multi system LCH, MS-LCH) with increased mortality. Mutually exclusive somatic activating mutations in BRAF(V600E, ~50-65%) and MAP2K1(~25%) genes are reported in LCH patients resulting in overactive MAP kinase pathway. Clinically the disease may affect any organs, more frequently bones, skin, and pituitary gland. Involvement of hematopoietic system, spleen, liver or CNS is considered high risk with less favorable prognosis. Involvement of "special sites" such as craniofacial bones (orbit, mastoid, sphenoid or temporal bones) may pose immediate risk. Systemic therapy is indicated in MS-LCH, SS-LCH with multifocal lesions (e.g. multiple bone lesions) or SS-LCH with special site lesions. Treatment of LCH in adults is challenging due to lack of prospective data and treatment protocols developed in pediatric population is very poorly tolerated in adults. The aim of this study is to review the clinical and genetic characteristics of adult LCH cases presenting to our institute and review treatment paradigm and response. Methods:We retrospectively identified patients reported as "Langerhans cell histiocytosis" between January 2008 to March 2018 by Hematopathology at the ARUP laboratories, University of Utah. Our search identified 23 unique patients; of these 3 cases were excluded due to age <18 years and 3 were excluded due to lack of follow-up records. Seventeen unique adult LCH patients were identified. Data on clinical characteristics, sites of disease involvement, genetic mutations, treatment were obtained by retrospective chart review (Table 1). BRAFV600Emutation analysis was performed by allele specific PCR amplification since 2010 where tissue was available. Detection of the PCR product(s) is performed by capillary electrophoresis and data analysis is done using GeneMarker 2.4.0 software (SoftGenetics; State College, PA, USA). Results: The median age was 34 years (range 18-80) and 8 patients were men (47%). One patient was initially diagnosed at 3 years of age, recurred at 7 years and 18 years of age and was included. 12 patients had SS-LCH (71%) and 5 patients had MS-LCH (29%). Three (18%) patients were considered high risk at diagnosis (1 liver, and 2 CNS). Bone was the most common site involved in 11 cases (68.7%) followed by lung in 6 cases (37.5%). Of 10 patients tested, 7 (70%) patients were positive for BRAFV600Emutation (Table 1). Six (35.2%) patients had an indication for initiation systemic chemotherapy, one lost to follow-up after presenting with CNS-LCH. 1 patient treated with first line systemic therapy with cladribine 5 mg/m2days 1-5, monthly for 6 months due to CNS-LCH involving hypothalamus. Four received first line therapy with cytarabine 100 mg/m2days 1-5, monthly for 12 months due to multifocal bone lesions or involvement of craniofacial bones; of which two patient recurred (1 patient with recurrent bone lesions and 1 with spleen/liver involvement), cladribine 5 mg/m2days 1-5, monthly for 6 months. Conclusions: In our single center experience, incidence of adult LCH is extremely rare. Majority of LCH patients presented with SS-LCH. Approximately 30% of the patients required systemic chemotherapy, and recurrence occurred in two patients who required further systemic therapy.Most common indications for systemic therapy are multifocal bone disease or involvement of craniofacial bones or CNS LCH. Table 1. Table 1. Disclosures Deininger: Blueprint: Consultancy; Pfizer: Consultancy, Membership on an entity's Board of Directors or advisory committees.

scholarly journals Paediatric Langerhans Cell Histiocytosis Disease: Long-Term Sequelae in the Hypothalamic Endocrine System

2021 ◽  
pp. 1-9
Author(s):  
Elisa Vaiani ◽  
Guido Felizzia ◽  
Fabiana Lubieniecki ◽  
Jorge Braier ◽  
Alicia Belgorosky
Keyword(s):  
Anterior Pituitary ◽  
Langerhans Cell Histiocytosis ◽  
Endocrine System ◽  
Langerhans Cell ◽  
Hormone Deficiency ◽  
Bone Lesions ◽  
Pituitary Hormone ◽  
Multisystem Disease ◽  
Anterior Pituitary Hormone

Langerhans cell histiocytosis (LCH) is a disorder of the mononuclear phagocyte system that can affect almost any organ and system. The most common central nervous system (CNS) manifestation in LCH is the infiltration of the hypothalamic-pituitary region leading to destruction and neurodegeneration of CNS tissue. The latter causes the most frequent endocrinological manifestation, that is, central diabetes insipidus (CDI), and less often anterior pituitary hormone deficiency (APD). The reported incidence of CDI is estimated between 11.5 and 24% and is considered a risk factor for neurodegenerative disease and APD. Three risk factors for development of CDI are recognized in the majority of the studies: (1) multisystem disease, (2) the occurrence of reactivations or active disease for a prolonged period, and (3) the presence of craniofacial bone lesions. Since CDI may occur as the first manifestation of LCH, differential diagnosis of malignant diseases like germ cell tumours must be made. APD is almost always associated with CDI and can appear several years after the diagnosis of CDI. Growth hormone is the most commonly affected anterior pituitary hormone. Despite significant advances in the knowledge of LCH in recent years, little progress has been made in preventing long-term sequelae such as those affecting the hypothalamic-pituitary system.

scholarly journals Langerhans Cell Histiocytosis with Isolated Central Diabetes Insipidus, Low Grade Fever and Sellar Erosion

2021 ◽  
Author(s):  
İclal Okur ◽  
Hasan Ari ◽  
Semra Çetinkaya ◽  
Betül Emine Derinkuyu ◽  
Gizem Çağlar ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Langerhans Cell Histiocytosis ◽  
Bone Structure ◽  
Sella Turcica ◽  
Langerhans Cell ◽  
Central Diabetes Insipidus ◽  
Bone Lesions ◽  
Warning Sign ◽  
Low Grade ◽  
First Case

Langerhans cell histiocytosis (LCH) is a rare disease of the monocyte-macrophage system. Although it is known that bone involvement is seen very frequently in cases with LCH, our case is the first case with a lytic-destructive lesion in the bone structure forming sella turcica. A 4-year-old, 5-month-old male patient who applied to our outpatient clinic was diagnosed with Langerhans cell histiocytosis in further examination after the diagnosis of central diabetes insipidus (CDI) was made. On cranial magnetic resonance imaging (MRI), widespread lytic-destructive bone lesions were observed in the bone structure forming the sella (sphenoid bone), sellar destruction not previously described in the literature. Sellar erosion has not been reported before in cases diagnosed with LCH in the literature. The presence of low-grade fever in a patient presenting with isolated CDI is a warning sign for the diagnosis of LCH.

scholarly journals Langerhans Cell Histiocytosis as Cause of Central Diabetes Insipidus: Case Report

2018 ◽  
Vol 37 (01) ◽  
pp. 76-79 ◽  
Author(s):  
Diana Nascimento ◽  
Manoel Teixeira ◽  
Eberval Figueiredo
Keyword(s):  
Diabetes Insipidus ◽  
Langerhans Cell Histiocytosis ◽  
Clinical Presentation ◽  
Bone Lesion ◽  
Langerhans Cell ◽  
Vital Functions ◽  
Hypothalamic Pituitary Axis ◽  
The Individual ◽  
Single Bone ◽  
Made In

AbstractLangerhans cell histiocytosis (LCH) is a rare disease of the monocyte-macrophage system, characterized by the aberrant proliferation of specific dendritic cells. The clinical presentation ranges from a single bone lesion to widespread multiorgan involvement. This disease is usually considered to be a disease of childhood; however, the diagnosis is frequently made in adulthood. The course of the disease is fairly unpredictable and varies from spontaneous resolution to progress into a debilitating form, which compromises the vital functions with occasional fatal consequences. Langerhans cell histiocytosis exhibits a predilection for the hypothalamic-pituitary-axis, with diabetes insipidus being the most common endocrine consequence related to the disease, which may be prior to diagnosis or develop at any time during the course of the disease. The diagnosis of LCH should be based on histologic and immunophenotypic examination of a lesional biopsy, although other testing may be done, depending on the symptoms. There is no established, widely agreed-upon treatment of LCH, in general. The treatment depends upon the individual patient and the extent and areas of involvement. The present article aims to describe the case of a 26-year-old male patient whose symptoms started with a headache and occipital bone lesion that progressed later with diabetes insipidus.

scholarly journals Primary oral manifestation of Langerhans cell histiocytosis refractory to conventional therapy but susceptible to BRAF-specific treatment: a case report and review of the literature

2019 ◽  
Vol 11 ◽  
pp. 175883591987801 ◽  
Author(s):  
Norbert Neckel ◽  
Andrej Lissat ◽  
Arendt von Stackelberg ◽  
Nadine Thieme ◽  
Mohemed-Salim Doueiri ◽  
...  
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Young Patients ◽  
Specific Treatment ◽  
Langerhans Cell ◽  
Adequate Treatment ◽  
Oral Manifestation ◽  
Stomatognathic System ◽  
Proper Diagnosis ◽  
Specific Agent

Langerhans cell histiocytosis (LCH) is a diagnostic and therapeutic challenge. We report on a rare case of its primary oral manifestation that was treated successfully with the BRAF-specific agent, vemurafenib, after insufficient standard LCH treatment. This case underlines the importance of proper diagnosis and the evaluation of targeted therapy as a valuable tool in LCH treatment. Furthermore, the close collaboration of surgeons, oncologists, and dentists is mandatory to ensure adequate treatment, restore the stomatognathic system in debilitating post-treatment situations, improve quality of life, and ensure effective disease control in infants and young patients.

PP – 10-YEAR FOLLOW- UP OF A SINGLE-SYSTEM LANGERHANS CELL HISTIOCYTOSIS - MULTIFOCAL BONE INVOLVEMENT

2017 ◽  
Vol 123 (2) ◽  
pp. e66
Author(s):  
RENATA MENDONÇA MORAES ◽  
JOYCE GIMENEZ MENON ◽  
JULIANA ROCHA VERRONE ◽  
JOSÉ DIVALDO PRADO ◽  
FERNANDO AUGUSTO SOARES ◽  
...  
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Langerhans Cell ◽  
Bone Involvement ◽  
Single System

Cladribine Activity in Adult Langerhans-Cell Histiocytosis

Blood ◽  
1999 ◽  
Vol 93 (12) ◽  
pp. 4125-4130 ◽  
Author(s):  
Alan Saven ◽  
Carol Burian
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Overall Response Rate ◽  
Single Agent ◽  
Langerhans Cell ◽  
Median Response ◽  
Major Activity ◽  
Prior Surgery ◽  
Grade 3 ◽  
Experienced Grade

Abstract Langerhans-cell histiocytosis (LCH) results from the accumulation of tissue histiocytes derived from the same progenitor cells as monocytes. Because cladribine is potently toxic to monocytes, we conducted a phase II trial of cladribine. Cladribine was administered to 13 LCH patients at 0.14 mg/kg per day by 2-hour intravenous infusion for 5 consecutive days, every 4 weeks for a maximum of six courses. Median age was 42 years (range, 19 to 72) and median pretreatment disease duration was 99 months (range, 6 to 252). One patient was untreated, one had received prior prednisone only, one prior radiation only, six prior radiation and chemotherapy, and four prior surgery, radiation, and chemotherapy. Seven patients had cutaneous involvement, six multifocal osseous, six pulmonary, two each with soft tissue and nodal involvement, and four had diabetes insipidus. Of 13 patients, 12 were evaluable for response and all for toxicity. After a median of three courses (range, 1 to 6), seven (58%) patients achieved complete responses (two pathologic and five clinical) and two (17%) patients achieved partial responses; overall response rate, 75%. Median response follow-up duration was 33 months (range, 1 to 65). Seven patients experienced grade 3 to 4 neutropenia. Only one patient had a documented infection, dermatomal herpes zoster. At a median follow-up of 42 months (range, 5 to 76), 12 patients remain alive and one patient has died. Thus, cladribine has major activity in adult LCH and warrants further investigation in both pediatric and adult LCH as a single agent and in combination with other drugs.

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