Langerhans cell histiocytosis (LCH) is a poorly understood proliferative disease, with different patterns of clinical presentation. Currently it is classified according to the number and type of system involved and the degree of organ dysfunction. The aetiology of the disease remains uncertain, and in some cases the disease is polyclonal, suggesting a reactive condition. Many cytokines have been implicated in the pathogenesis of LCH. Different therapeutic approaches can be considered depending on the affected organ, including surgery, radiotherapy and chemotherapy. Long-term organ dysfunction may remain, despite disease control and/or eradication, making indefinite supportive treatment mandatory. Here we present a literature review on all of the aspects of the disease, treatment approaches and existing protocols, and finally an adult clinical case.
Breast cancer is the most common type of cancer among women, and clinicians have long recognized its heterogeneity. Its detection and treatment in early stages allow for reduction of mortality. Despite the advances and new strategies for combining surgical, radiotherapy, and chemotherapy options, however, the percentage of patients developing metastases and advanced stages remains high. Even though serum tumor markers have been used for the early diagnosis of metastases, their systematic determination has not had an effect on survival. Methods that are more reliable are needed to detect metastases earlier than with the common clinical methods and thus start treatment before overt relapse. Early indicators of response or resistance to treatment are also an issue in clinical practice. Imaging techniques are time consuming, and it is difficult to detect changes that indicate response limited to therapy, and approaches to defining changes in tumor mass are time and resource consuming. In contrast, detection of circulating tumor cells (CTC) could be a useful tool in early detection of relapse and response to systemic chemotherapy. Extremely sensitive techniques are available that are easily applied to peripheral blood samples, which might provide enormous research possibilities in this area.
The authors present a rare case of Langerhans cell histiocytosis in a 31 year old female patient with vulvar, peri-anal and oral lesions, diabetes insipidus, pulmonary skin and bone infiltrations. Skin biopsy immunohistochemistry presented positive S100 protein and vimentin, but the diagnosis was done with the demonstration of Birbeck granules with electronic microscopy. The treatment was based on systematical chemotherapy although vulvar lesion has a bad response to chemotherapy.
Bilateral synchronous testicular cancer is a rare disease and is usually associated with similar histological findings in each testicle. The standard therapy of bilateral testis cancer is generally considered to be inguinal orchiectomy. We present a case of synchronous bilateral testicular germ cell tumour, with different histology, initially treated with testis-sparing surgery. After pathology review, the margin of the partial orchiectomy was considered affected, and an inguinal orchiectomy was planned. Options for testis-sparing surgery are discussed.
Treatment of patients with metastatic colorectal cancer has changed in recent years, with many patients now being offered intent-to-treat regimens. In this context, a multidisciplinary approach to the metastatic disease may lead to individualized treatment for any patient. Stereotactic body radiotherapy (sbrt) is not the most common treatment. Here, we present the clinical case of a patient with a solitary liver metastasis initially treated with sbrt that was rescued with surgery when a local recurrence was detected.
Patients with advanced germ cell tumors can be cured with cisplatin-based chemotherapy, but the outcome remains unsatisfactory for patients with relapsed disease, including those patients with refractory disease after bone marrow transplantation. Targeted therapies have changed the standard of care for many advanced solid tumors. We have identified, in the literature, potential targets for the treatment of refractory germ cell tumors, and applied to a patient with a refractory disease. We chose sunitinib for this purpose. To our knowledge, this is the first case to be treated with sunitinib, and we have found a promising activity.
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