Liver Langerhans cell histiocytosis in a pediatric patient: a case description and literature analysis.
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ABSTRACT:
SUBMITTER: Guo T
PROVIDER: S-EPMC10784079 | biostudies-literature | 2024 Jan
REPOSITORIES: biostudies-literature
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Liver Langerhans cell histiocytosis in a pediatric patient: a case description and literature analysis.
Guo Tongtong T Luo Hongchang H
Quantitative imaging in medicine and surgery 20231102 1
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Project description:BackgroundLangerhans cell histiocytosis (LCH) is a rare group of disorders without a well understood etiology. Known formerly as histiocytosis X, the disease has a wide spectrum of clinical presentations, including eosinophilic granuloma (solitary bone lesion), diabetes insipidus, and exophthalmos. Many of these patients initially present to orthopaedic surgeons, and misdiagnosis is frequent.MethodsWe deliver a case of a 10-month-old boy who consulted to our department. Previously misdiagnosed as a Kawasaki syndrome, TORCH, and osteomyelitis. He had undergone several examinations and had been discussed in clinocipathological conference (CPC) to narrow down the diagnosis.ResultAfter serial examinations, the diagnosis of Langerhans Cell Histiocytosis was confirmed and chemotherapy was initiated. And after 6 cycles of chemotherapy, with 1-week interval of each therapy, the clinical appearance of this patient significantly improved.ConclusionDespite major advances in our understanding and management of LCH, it remains one of the most challenging diagnoses for the orthopedic surgeon. By doing a comprehensive examination, it is possible to narrowing down the diagnosis and planning the accurate treatment.
| S-EPMC6702438 | biostudies-literature
Project description:Background and aimsLiver involvement portends poor prognosis in adults. We aimed to characterize the clinical features, liver function tests, radiologic findings, molecular profiles, therapeutic approaches and outcomes of adults patients with Langerhans cell histiocytosis (LCH) with liver involvement.MethodsWe conducted a retrospective analysis of all adults with LCH (≥ 18 years) seen at Peking Union Medical College Hospital (Beijing, China) between January 2001 and December 2022.ResultsAmong the 445 newly diagnosed adults with LCH, 90 patients had liver involvement at diagnosis and 22 patients at relapse. The median age was 32 years (range, 18-66 years). Of 112 evaluable patients, 108 had full liver function testing, including alanine aminotransferase, aspartate aminotransferase, alkaline phosphatase (ALP), γ-glutamyl transpeptidase (GGT), and total bilirubin and albumin. Elevated ALP was seen in 63.0% and GGT in 86.1%; 14.8% had elevated bilirubin. Next-generation sequencing of 54 patients revealed frequent BRAFN486_P490 (29.6%), BRAFV600E (18.5%), and MAP2K1 (14.8%).OutcomesAfter a median 40 months' follow-up (range 1-168 months), 3-year progression-free survival (PFS) and overall survival were 49.7% and 86.6% respectively. In multivariable analyses, ≥3 abnormal liver function tests (HR 3.384, 95% CI 1.550-7.388, P = .002) associated with inferior PFS; immunomodulatory drug therapy (HR 0.073, 95% CI, 0.010-0.541, P = .010) correlated with superior PFS versus chemotherapy.ConclusionsIn summary, elevated GGT and ALP were common in adults with LCH liver involvement. Greater than equal to 3 abnormal liver function tests predicted poor outcomes. Immunomodulatory drug therapy was associated with favorable progression-free survival compared to chemotherapy.
| S-EPMC11449058 | biostudies-literature
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| S-EPMC6334777 | biostudies-literature
Project description:Langerhans cell histiocytosis (LCH) is a rare neoplastic disease characterized by infiltration of histiocytes and dendritic cells into body organs. While treatment is better established in pediatrics, there is still no consensus on therapy in the adult population. Imatinib has shown promising results in some case reports and a small clinical trial. We present here a fifty-nine-year-old patient with LCH in the lung, liver, and bone who responded well to an imatinib dose of 100 mg daily. Her symptoms improved within 3 months of treatment, and subsequent positron emission tomography-computed tomography (PET/CT) showed resolution of 18F-fluorodeoxyglucose (FDG)-avid lesions.
| S-EPMC10355039 | biostudies-literature
Project description:BackgroundLangerhans cell histiocytosis (LCH) is a rare condition that has a variety of clinical manifestations. But LCH in children localized only in the hepatobiliary system is unusual.Case presentationHere we reported a rare case of a 2-year-old boy who was serendipitously found to have elevated liver enzymes while undergoing treatment of a perianal abscess. After a period of earlier conservative treatment in another hospital, the perianal abscess had resolved but the levels of liver enzymes were still rising slowly. The child was then referred to our institution for a definitive diagnosis. After laboratory tests, imaging and pathological examinations, a diagnosis of liver cirrhosis and sclerosing cholangitis was established, although the cause was unclear. Subsequently, living-donor liver transplantation was performed due to deterioration in liver function. Following successful liver transplantation, a diagnosis of LCH localized only within the hepatobiliary system was finally confirmed, based on additional pathological and imaging investigation. Additionally, the BRAF V600E mutation in this patient was also confirmed. The child has now recovered without evidence of LCH recurrence.ConclusionsLCH localized only within the hepatobiliary system is unusual. The presence of unexplainable sclerosing cholangitis and liver cirrhosis in any child should raise the suspicion of LCH.
| S-EPMC8721976 | biostudies-literature
Project description:Langerhans cell histiocytosis (LCH) is a rare systemic and heterogeneous disease secondary to proliferation and diffuse infiltration of immature CD1a-positive dendritic cells, also known as Langerhans cells. LCH affects predominantly paediatric patients and is rarely diagnosed in adulthood. Despite its worldwide prevalence, most reported cases are found in the Japanese population. There is no consensus regarding treatment strategy due to the low incidence of this disease and the diversity of symptoms that appear. An integrative literature review was conducted based on the PubMed database using MeSH terms 'Langerhans', 'histiocytosis' and 'adult'. The present report describes a case of a successfully treated LCH-induced central diabetes insipidus (uncommon presentation in adult patients) as well as an updated review of current evidence published on this matter.
| S-EPMC7403809 | biostudies-literature
Project description:Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocyte disorder most commonly characterized by multifocal osteosclerotic lesions of the long bones demonstrating sheets of foamy histiocyte infiltrates on biopsy with or without histiocytic infiltration of extraskeletal tissues. ECD can be difficult to diagnose since it is a very rare disease that can affect many organ systems. Diagnosis is based on the pathologic evaluation of involved tissue interpreted within the clinical context. Patients who have the BRAF V600E mutation are treated first line with vemurafenib. For those without the mutation with symptomatic ECD, conventional or PEGylated interferon alpha is recommended. For patients who are either intolerant or nonresponsive to interferon alpha, systemic chemotherapy with or without corticosteroids can be used. We present a rare case of Erdheim-Chester disease with concurrent Langerhans cell histiocytosis which occurs in only one fifth of the cases and often presents as a diagnostic and therapeutic challenge.
| S-EPMC5977054 | biostudies-literature
Project description:Background Langerhans cell histiocytosis (LCH) is a rare proliferative disease caused by the proliferation of Langerhan’s cells and aggregation in multiple organs. Rib involvement is extremely rare and easily misdiagnosed. The biologic behavior of LCH is largely unknown, and it is of utmost importance to differentiate it from tuberculosis and tumors. Herein, we present a male adult diagnosed with Langerhans cell histiocytosis of the rib which was successfully treated with surgery. Case Description This study retrospectively reports a rare case of rib-only LCH in a 34-year-old male patient who complained of persistent stabbing pain in the left chest and back for 45 days. The pain increased after bending, and was accompanied by chest tightness, shortness of breath, and night sweats. The patient denied any family history of LCH. CT showed an isolated mass on the left chest wall invading the seventh posterior rib. The diagnosis was confirmed by immunohistochemical staining and pathological analysis. The immunohistochemistry showed VIM (+), Ki-67 (+30%), CD1a (+), CD 68 (+) and S-100 (+). After surgical resection, the patient was followed up for more than 5 years without recurrence or complication. In addition, we reviewed and summarized 11 reported LCH cases with rib involvement, in which patients were either asymptomatic, or reported chest or back pain. Surgical resection was the main therapy in each case, and after 4–63 months of follow up, all patients were disease-free. Conclusions This case presents a rare instance of adult LCH in the rib. Pathological typical Langerhans cells and positive protein S100, CD1a, and CD207 are the key evidences for LCH, and surgical resection is currently an effective therapy with satisfactory outcomes.
| S-EPMC9577751 | biostudies-literature
Project description:BackgroundPulmonary Langerhans Cell Histiocytosis (PLCH) is a rare interstitial lung disease primarily affecting young to middle-aged smokers. While traditionally linked to tobacco use, there is growing evidence that cannabis use may contribute to PLCH.MethodsWe present a case of a 52-year-old male with PLCH associated with heavy cannabis use. Diagnostic evaluations included CT scan of the chest and histopathological examination of a lung biopsy. In addition, a comprehensive review of the literature was conducted to identify and analyze similar cases of PLCH linked to cannabis use. Databases searched included PubMed and Google Scholar, following PRISMA guidelines.ResultsThe patient presented with dyspnea, cough and unintentional weight loss. The patient had a 20-year history of smoking approximately ten cannabis blunts per day. Despite normal initial chest X-ray findings, a CT scan of his chest revealed upper lobe predominant cystic changes and emphysema. Histopathology from a transbronchial biopsy confirmed the presence of Langerhans cells, consistent with PLCH. Literature review identified five additional case reports of PLCH associated with cannabis use, involving patients aged 16 to 59 years, with a mean age of 35.8 years. Common clinical presentations included cough, dyspnea, and chest pain, with radiographic findings of nodules and cysts. Treatment was primarily targeted towards smoking cessation, which led to clinical improvement in all cases.ConclusionsThis case underscores the potential association between heavy cannabis use and the development of PLCH. With the increasing prevalence of cannabis consumption, it is essential to recognize cannabis as a possible risk factor for PLCH. Further research is needed to understand the pathophysiological mechanisms underlying cannabis-related PLCH. As cannabis use becomes more prevalent with changing legislation, understanding its impact on lung health and potential role in diseases like PLCH is increasingly important.
| S-EPMC11773874 | biostudies-literature
Project description:Children with Langerhnans cell histiocytosis (LCH) develop granulomatous lesions with characteristic clonal CD207+ dendritic cells that can arise as single lesions or life-threatening disseminated disease. Despite the wide range of clinical presentations, LCH lesions are histologically indistinguishable based on severity of disease, and uncertain classification as an immune versus neoplastic disorder has historically challenged the development of optimal clinical strategies for patients with LCH. Recently, activating somatic mutations in MAPK pathway genes, most notably BRAFV600E, have been discovered in almost all cases of LCH. Further, the stage of myeloid differentiation in which the mutation arises defines the extent of disease and risk of developing LCH-associated neurodegeneration. MAPK activation in LCH precursor cells drives myeloid differentiation, inhibits migration, and inhibits apoptosis, resulting in accumulation of resilient pathologic dendritic cells that recruit and activate T cells. Recurrent somatic mutations in MAPK pathway genes have also been identified in related histiocytic disorders: juvenile xanthogranuloma, Erdheim-Chester disease, and Rosai-Dorfman disease. New insights into pathogenesis support reclassification of these conditions as a myeloid neoplastic disorders. Continued research will uncover opportunities to identify novel targets and inform personalized therapeutic strategies based on cell of origin, somatic mutation, inherited risk factors, and residual disease.
| S-EPMC9150752 | biostudies-literature