Granuloma eosinofílico cervical en el adolescente: reporte de un caso y revisión de la literatura / Cervical eosinophilic granuloma in adolescents: case report and literature review

INTRODUCCIÓN El granuloma eosinofílico (GE) es una patología infrecuente, sobre todo en adultos, que puede afectar la columna cervical. A pesar de la vasta literatura, esta enfermedad afecta principalmente a la población infantil, y no hay un consenso sobre el manejo en adultos. Con el objetivo de aportar conocimiento respecto a esta patología poco frecuente, se presenta un caso clínico de GE cervical en un paciente de 16 años, a quien se trató de manera conservadora, con buenos resultados y retorno completo a sus actividades. CASO CLÍNICO Un hombre de 16 años, seleccionado de rugby, consultó por dolor cervical axial persistente y nocturno de 6 semanas de evolución, sin trauma evidente. Al examen, destacó dolor a la compresión axial sin compromiso neurológico asociado. Los exámenes de tomografía computarizada (TC) y resonancia magnética (RM) revelaron lesión lítica en el cuerpo de C3 de características agresivas, de presentación monostótica en tomografía por emisión de positrones-tomografía computada (TEP-TC) compatible con tumor primario vertebral. Se decidió realizar biopsia percutánea bajo TC, para definir el diagnóstico y manejo adecuado, la cual fue compatible con células de Langerhans. Al no presentar clínica ni imagenología de inestabilidad ósea evidente o compromiso neurológico, se manejó con tratamiento conservador, inmovilización cervical, analgesia oral, y seguimiento estrecho. A los cuatro meses de evolución, se presentó con una TC con cambios reparativos del cuerpo vertebral y sin dolor, y logró retomar sus actividad habituales. CONCLUSIONES El diagnóstico de GE es infrecuente a esta edad, y se debe plantear entre diagnósticos diferenciales de lesiones líticas agresivas primarias vertebrales. Es necesario el uso de imágenes, y la biopsia vertebral es fundamental para confirmar el diagnóstico. Su manejo va a depender de la sintomatología, del compromiso de estructuras vecinas, y de la estabilidad de la vértebra afectada. El manejo conservador con seguimiento clínico e imagenológico es una opción viable.

INTRODUCTION Eosinophilic granuloma (EG) is a rare, tumor-like lesion, infrequently affecting the cervical spine, particularly in adults. Although vastly described in literature, this pathology mainly affects children, and there is still no consensus on its treatment in older patients. With the goal of contributing to increase the knowledge regarding this infrequent pathology, we present a case of a C3 eosinophilic granuloma in a 16-year-old patient, who was treated conservatively, with good results, including complete return to his previous activities. CLINICAL CASE a 16-year-old male, elite rugby player, presented with a history of persistent neck pain, mainly at night, with no previous trauma. Upon physical examination, he reported neck pain with axial compression of the head, without neurological impairment. Both computed tomography (CT) and magnetic resonance imaging (MRI) scan revealed an aggressive lytic lesion in the C3 vertebral body, a with monostotic presentation on positron emission tomography-computed tomography (PET-CT) compatible with a primary spine tumor. A CT-guided percutaneous biopsy was obtained to establish the diagnosis and provide the proper management. The results were compatible with Langerhans cells. As he presented no symptoms or imaging findings of evident bone instability, as well as no neurological impairment, the patient was treated conservatively, with a cervical brace, oral pain medication and close followup. A CT obtained after four months of treatment showed reparative changes of the C3 vertebral body; at this point, the patient reported no neck pain, so he was able to return to his previous activities. CONCLUSIONS Although an EG is rare at this age, it should be considered in the differential diagnosis of primary vertebral aggressive lytic lesions. Imaging and a vertebral biopsy are paramount to confirm the diagnosis. The treatment modality depends on the symptoms, the involvement of adjacent structures, and the stability of the affected vertebra. Conservative management including clinical and imaging followup is a viable option.

[Clinical characteristics of localized Langerhans cell histiocytosis in children].

Objective:To explore the clinical features of cephalic and facial limited langerhans cell histiocytosis （LCH） in children for improving its diagnosis and treatment. Methods:Clinical data of 8 children with cephalic and facial limited LCH were retrospectively analyzed, including the onset time of disease, lesion location, imaging data, clinical manifestations and treatment strategies. Results:One case was preliminarily diagnosed as chronic inflammation with nasal back lesions, then conformed by repeated surgical pathology. Six cases were found to have simple cephalic and facial lumps without pain and swelling. One case was found to have temporal lump with suppurate in the lateral auditory canal. Five cases were treated with surgical excision of lesions. Three cases were treated with surgical excision of lesions, and continued with chemotherapy after confirmed pathological diagnosis. All cases were followed up for 2-3 years with good prognosis. Conclusion:Cephalic and facial limited LCH in children was easy to be misdiagnosed and should be regarded as animportant differential diagnosis of cephalic and facial lumps. Good outcome is achieved by treatment with surgical resection combined with adjuvant chemotherapy.

FDA Approval Summary: Vemurafenib for the Treatment of Patients with Erdheim-Chester Disease with the BRAFV600 Mutation.

On November 6, 2017, the U.S. Food and Drug Administration (FDA) granted regular approval to vemurafenib for the treatment of adult patients with Erdheim-Chester disease (ECD) with BRAFV600 mutation. ECD is a type of histiocytosis, a rare disorder characterized by an abnormal accumulation and behavior of cells of the mononuclear phagocytic system, which includes antigen-processing cells, dendritic cells, monocytes, or macrophages. Recently published data confirm a frequency of 54% of BRAFV600E mutations in patients with ECD.Approval was based on a cohort of 22 patients who received 960 mg of vemurafenib twice daily within the VE Basket Trial (MO28072), a single-arm, multicenter, multiple cohort study. Patients in the ECD cohort had histologically confirmed ECD with BRAFV600 mutations that were refractory to standard therapy. The ECD cohort achieved an overall response rate of 54.5% (95% confidence interval: 32.2-75.6), with a complete response rate of 4.5%. With a median duration of follow-up of 26.6 months, the median duration of response has not been reached. The most frequently reported adverse reactions (>50%) in the ECD cohort were arthralgia, rash maculo-papular, alopecia, fatigue, electrocardiogram QT interval prolonged, and skin papilloma. The median treatment duration for ECD patients in this study was 14.2 months. This article describes the FDA review of the vemurafenib efficacy supplement for patients with ECD with BRAFV600 mutations. IMPLICATIONS FOR PRACTICE: Vemurafenib, an oral monotherapy targeting a mutation in BRAF, is the first U.S. Food and Drug Administration approval for the treatment of Erdheim-Chester disease (ECD). ECD is an extremely rare hematopoietic neoplasm that represents clonal proliferation of myeloid progenitor cells. ECD may involve bone and one or more organ systems, primarily affecting adults in their 5th and 7th decades of life, with a slight male predominance. This approval provides an effective and reasonably safe therapy for patients with a serious and life-threatening condition for which no approved therapy exists.

Nosology and Pathology of Langerhans Cell Histiocytosis.

The classification of the histiocytoses has evolved based on new understanding of the cell of origin as a bone marrow precursor. Although the pathologic features of the histiocytoses have not changed per se, molecular genetic information now needs to be integrated into the diagnosis. The basic lesions of the most common histiocytoses, their patterns in different sites, and ancillary diagnostics are now just one part of the classification. As more is understood about the cell of origin and molecular biology of the histiocytoses, future classifications will be refined.

MR features of orbital langerhans’cell histiocytosis / 实用放射学杂志

Objective To investigate diagnostic magnetic resonance imaging features of orbital Langerhans cell histocytosis (LCH)and improve its diagnostic accuracy.Methods The symptoms and image data of fourteen histophathology verified orbital LCH cases are reviewed and analyzed.Results Nine patients had swollen eyelids,accompanying with symptoms of inflammation, esphthalmos and orbital masses.One case had cough symptom and another had diabetes insipidus.Of these fourteen cases,seven occurred in right orbital,six occurred in left orbital and one involved bilateral orbital.As to the location of LCH,six cases located in super-lateral wall of the orbit,five cases located in lateral wall of the orbital,and three cases located in roof of orbital.On MRI, thirteen cases lesions show hypo or iso signal intensity on T1 WI,and eleven cases lesions show heterogeneous hyper or iso signal in-tensity on T2 WI.The lesions of eosinophilic granuloma has clear border,which differentiate it from other types.After contrast en-hancement,MR imaging showed marked inhomogeneous enhancement.Conclusion MRI is the primary modality in diagnosing of or-bital LCH,clearly and accurately manifesting the extent of orbital LCH.It will be helpful to diagnose LCH timely if combining with clinical data.MR could provide reliable information for making surgical operation and treatment plan.

Langerhans Cell Histiocytosis with Pancreatic Involvement: Imaging Findings Including Diffusion-Weighted Imaging

Langerhans cell histiocytosis (LCH) can affect many different organs. However, LCH with pancreatic involvement is very rare with a few reports about imaging findings. We present a case of multisystemic LCH with pancreatic involvement in a five-week-old infant. Pancreas lesion showed hypoechoic on ultrasonography, low density with poor enhancement on CT, and restricted diffusion on diffusion-weighted imaging. Although LCH with pancreatic involvement is rare, LCH should be considered in the differential diagnosis of pancreatic mass in children.

X-ray diagnosis of the skeletal lesions of Langerhans cell histocytosis / 重庆医科大学学报

Objective:To review the X-ray manifestations of the skeletal lesions in children with Langerhans cell histocytosis(LCH),and to evaluate the X-ray examination in the diagnosis of LCH.Methods:The skeletal plain films of 35 children with LCH were analysed retrospectively.AⅡ cases were confirmed by pathology.Results:Among 35 cases,skull destructions were found in 24(68.6%),vertebral destruction in 8(22.9%),long bone destruction in 12(34.3%),flat bone and irregular bone destruction in 4(11.4%).Eosinophilic granulomas mainly involved skull,vertefra and long bones,while Letterer-Siwes disease,Hand-Schuller-Christian disease and intermediary type mainly involved skull bones.Conclusion:Multilocation,diversity and changeability of the skeletal lesions are the x-ray features of LCH in children.X-ray examination and follow-up play an important role in the diagnosis of LCH.

2-Chlorodeoxyadenosine for Children with Recurrent or Refractory Langerhans Cell Histiocytosis / 대한소아혈액종양학회지

PURPOSE: Langerhans cell histiocytosis (LCH) is a disorder characterized by the proliferation of activated Langerhans cells. Although current therapies are very effective at inducing remission, multiple recurrences and long-term sequelae are common for young patients. For this reason, more effective therapies based on the pathogenesis of LCH are needed. We investigated the use of 2-chlorodeoxyadenosine (2-CdA), a purine analogue with an antiproliferative effect on histiocytes and lymphocytes, in patients with recurrent or refractory LCH. METHODS: Four children with recurrent or refractory LCH received 2-CdA (5~7 mg/m2/day for 5 days, given as a 24-hr continuous infusion and repeated every 21~28 days for 5~7 courses). RESULTS: All four patients had multiorgan involvement, and were heavily pretreated. Of the two children with recurrent diseases, one had complete response and the other showed no active disease except for the remaining diabetes insipidus. Two infants who showed poor early response to previous combination chemotherapy also responded poorly: partial response in one, and progressive disease resulting in death in the other. Toxicity consisted mainly of myelosuppression, but significant infections did not occur. The peripheral neuropathy was not seen. CONCLUSION: 2-CdA, tolerable in children without significant side effects, might be effective for the treatment of recurrent LCH in children. However, the efficacy in infants with multi-system, refractory diseases needs further study. The feasibility of 2-CdA treatment as the first-line therapy for high-risk diseases, and the possibility of combination with other agents needs to be addressed in the future.