-
Gynecologic Oncology Reports May 2021•Primary vulvar Langerhans cell histiocytosis is rare with less than 40 reported cases.•Diagnosis of vulvar LCH requires prompt metastatic workup to rule out...
•Primary vulvar Langerhans cell histiocytosis is rare with less than 40 reported cases.•Diagnosis of vulvar LCH requires prompt metastatic workup to rule out multisystem involvement.•Treatment protocols for isolated vulvar LCH vary widely and there is not an established standard of care.•Continue surveillance is warranted even after prolonged periods of remission.
PubMed: 34036139
DOI: 10.1016/j.gore.2021.100785 -
Hormone Research in Paediatrics 2021Langerhans 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... (Review)
Review
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.
Topics: Child; Diabetes Insipidus, Neurogenic; Histiocytosis, Langerhans-Cell; Humans; Hypopituitarism
PubMed: 34167121
DOI: 10.1159/000517040 -
Blood Jan 2022
Topics: Histiocytosis; Histiocytosis, Langerhans-Cell; Humans
PubMed: 35024810
DOI: 10.1182/blood.2021014529 -
Blood Apr 2021
Topics: Histiocytosis, Langerhans-Cell; Humans; Tomography, X-Ray Computed
PubMed: 33792676
DOI: 10.1182/blood.2020009251 -
Journal of Feline Medicine and Surgery Apr 2020The aim of this study was to report the clinical, radiographic and pathological features of pulmonary Langerhans cell histiocytosis in four cats, and carry out a... (Review)
Review
OBJECTIVES
The aim of this study was to report the clinical, radiographic and pathological features of pulmonary Langerhans cell histiocytosis in four cats, and carry out a literature review of feline histiocytic diseases.
METHODS
Necropsy reports archived at the Department of Veterinary Pathology of the Federal University of Rio Grande do Sul were reviewed. The clinical information was then obtained from the clinical records at the Veterinary Hospital. Routine samples had been collected during necropsy, fixed in 10% formalin, routinely processed for histology, and stained with hematoxylin and eosin. Samples of lung were submitted for bacterial and fungal culture. Tissue sections of lung underwent immunohistochemical testing for vimentin, pancytokeratin, CD18, CD3, CD79αcy, E-cadherin and Iba1.
RESULTS
This disease affected mixed breed cats aged 7-14 years. Clinical signs consisted of severe mixed inspiratory and expiratory restrictive dyspnea, lethargy and anorexia. Thoracic radiographs revealed different lesion profiles, predominantly of an interstitial and alveolar pattern. Grossly, the lungs were diffusely firm and did not collapse. The pleural surface was bright and irregular due to multifocal-to-coalescent, well-demarcated, white, firm nodules that also extended into and obliterated the pulmonary parenchyma. Histological changes were characterized by poorly demarcated infiltration with histiocytic cells arranged in cohesive groups within the alveolar, bronchiolar and bronchial spaces. Histiocytic cells had intense cytoplasmic immunolabeling for vimentin and Iba1, and robust membrane immunolabeling with CD18 and E-cadherin; these cells were negative for CD3, CD79αcy and pancytokeratin in all cases.
CONCLUSIONS AND RELEVANCE
This article confirms that pulmonary Langerhans cell histiocytosis is a rare disease that occurs in middle-aged to older cats and causes widespread involvement of the pulmonary parenchyma, inducing acute or chronic, progressive respiratory disease characterized by mixed restrictive dyspnea that eventually leads to death. While a definitive clinical diagnosis is challenging, the nodular appearance of the pulmonary changes, together with the histological and immunohistochemistry findings, suffice for diagnostic confirmation of pulmonary Langerhans cell histiocytosis.
Topics: Animals; Cat Diseases; Cats; Histiocytosis, Langerhans-Cell
PubMed: 30977699
DOI: 10.1177/1098612X19842384 -
Cureus Aug 2022The unusual disorder known as Langerhans cell histiocytosis, which is most frequently seen in children and young adults, is caused by the clonal proliferation of...
The unusual disorder known as Langerhans cell histiocytosis, which is most frequently seen in children and young adults, is caused by the clonal proliferation of Langerhans cells. Even if clinical signs and radiographic evidence of destructive bone lesions may raise suspicion of the disease, a reliable diagnosis without a thorough pathological examination is challenging. This report describes a case of eosinophilic granuloma of the mandible in a nine-year-old child with characteristic radiological, histopathological, and immunohistochemical features.
PubMed: 36158441
DOI: 10.7759/cureus.28222 -
Blood Advances Feb 2023Langerhans cell histiocytosis (LCH) is a rare neoplastic disorder caused by somatic genetic alterations in hematopoietic precursor cells differentiating into...
Langerhans cell histiocytosis (LCH) is a rare neoplastic disorder caused by somatic genetic alterations in hematopoietic precursor cells differentiating into CD1a+/CD207+ histiocytes. LCH clinical manifestation is highly heterogeneous. BRAF and MAP2K1 mutations account for ∼80% of genetic driver alterations in neoplastic LCH cells. However, their clinical associations remain incompletely understood. Here, we present an international clinicogenomic study of childhood LCH, investigating 377 patients genotyped for at least BRAFV600E. MAPK pathway gene alterations were detected in 300 (79.6%) patients, including 191 (50.7%) with BRAFV600E, 54 with MAP2K1 mutations, 39 with BRAF exon 12 mutations, 13 with rare BRAF alterations, and 3 with ARAF or KRAS mutations. Our results confirm that BRAFV600E associates with lower age at diagnosis and higher prevalence of multisystem LCH, high-risk disease, and skin involvement. Furthermore, BRAFV600E appeared to correlate with a higher prevalence of central nervous system (CNS)-risk bone lesions. In contrast, MAP2K1 mutations associated with a higher prevalence of single-system (SS)-bone LCH, and BRAF exon 12 deletions seemed to correlate with more lung involvement. Although BRAFV600E correlated with reduced event-free survival in the overall cohort, neither BRAF nor MAP2K1 mutations associated with event-free survival when patients were stratified by disease extent. Thus, the correlation of BRAFV600E with inferior clinical outcome is (primarily) driven by its association with disease extents known for high rates of progression or relapse, including multisystem LCH. These findings advance our understanding of factors underlying the remarkable clinical heterogeneity of LCH but also question the independent prognostic value of lesional BRAFV600E status.
Topics: Humans; Cohort Studies; Proto-Oncogene Proteins B-raf; Histiocytosis, Langerhans-Cell; Mutation; Neoplasms
PubMed: 36083130
DOI: 10.1182/bloodadvances.2022007947 -
Ear, Nose, & Throat Journal May 2022Langerhans Cell Histiocytosis is a rare disorder characterized by an abnormal proliferation of Langerhans cells in one or multiple organs. It rarely presents with a...
Langerhans Cell Histiocytosis is a rare disorder characterized by an abnormal proliferation of Langerhans cells in one or multiple organs. It rarely presents with a central vestibular involvement. We report a case of a multisystem Langerhans Cell Histiocytosis with mucosal, hepatic, and neurological involvement, presenting with dizziness and balance disorders. A 39-year-old woman with a histopathologically confirmed mucosal palatal Langerhans Cell Histiocytosis presented with a history of dizziness for a year. Vestibular examination revealed a saccadic eyes pursuit, an up beating spontaneous nystagmus, a bilateral gaze nystagmus and a prolonged positional nystagmus, in the supine roll test. Pure tone audiometry showed a slight left sensorineural hearing loss at the 8000 Hz frequency. Computed tomography (CT) scan showed a bilateral maxillary sinus fullness and a peripheral osteosclerosis of the surrounding bony walls. Hepatic magnetic resonance imaging (MRI) showed a typical hepatic involvement with a hepatomegaly with countless cysts. Temporal bone CT scan and MRI were normal. Cerebral MRI showed an hyperintense nodular signal at T2 FLAIR weighted images lateral to the right pons, at the level of the left middle cerebellar peduncle and at the left mesencephalon. Balance disorders can rarely present a sign of a degenerative neurological cerebellar involvement. Such a rare manifestation can present in different neurological disorders such as Langerhans' cell Histiocytosis.
PubMed: 35638545
DOI: 10.1177/01455613221106220 -
Ear, Nose, & Throat Journal May 2021This is a case of a pediatric male who presented with a postauricular mass and pain. Computed tomography and magnetic resonance imaging suggested a diagnosis of...
This is a case of a pediatric male who presented with a postauricular mass and pain. Computed tomography and magnetic resonance imaging suggested a diagnosis of Langerhans cell histiocytosis. Characteristic imaging findings and initial workup for Langerhans cell histiocytosis are described.
Topics: Child; Diagnosis, Differential; Histiocytosis, Langerhans-Cell; Humans; Magnetic Resonance Imaging; Male; Medical Illustration; Skull Neoplasms; Temporal Bone; Tomography, X-Ray Computed
PubMed: 31558057
DOI: 10.1177/0145561319869605 -
Journal of the European Academy of... Aug 2020Reticulohistiocytoses (RH) are rare and clinically heterogeneous histiocytic disorders of dermatological interest. Three clinical entities with superimposable... (Review)
Review
Reticulohistiocytoses (RH) are rare and clinically heterogeneous histiocytic disorders of dermatological interest. Three clinical entities with superimposable histopathological features are currently considered, namely solitary reticulohistiocytoma, diffuse/generalized reticulohistiocytosis and multicentric reticulohistiocytosis. Although in the last decade, RH studies have only minimally progressed, histiocytosis research has advanced considerably: the prognostic and therapeutic importance of the clinical subclassification of histiocytosis patients as well as of the detection of genetic alterations in the genes of the ERK pathway has been highlighted. According to these insights, we previously reported the presence of molecular alteration RH and described a subset of patients with disseminated multisystem involvement lacking arthritis. In the present review, we aim to update and revise the knowledge regarding RH. We first reviewed their histopathological, immunophenotypical and ultrastructural features, discussed their histopathological differential diagnosis with other conditions characterized by infiltrates made of oncocytic or epithelioid cells (with special regard to Destombes-Rosai-Dorfman disease) and finally summarized the molecular landscape of RH. We therefore tried to adjust the clinical subclassification of Langerhans cell histiocytosis to the clinical phenotypes of RH, outlining five clinically different groups of patients. Finally, we reconsidered the clinical workflow to the evaluation of RH patients, in light of the 5 different clinical groups and discussed the different therapeutic approaches and the possible role of target inhibitors.
Topics: Diagnosis, Differential; Epithelioid Cells; Histiocytosis, Langerhans-Cell; Histiocytosis, Non-Langerhans-Cell; Histiocytosis, Sinus; Humans
PubMed: 31955466
DOI: 10.1111/jdv.16214