Malignant mixed mullerian tumor of the ovary are very aggressive tumors that were usually diagnosed at an older age. They are usually at an advanced stage at the time of diagnosis, and survival after diagnosis varies by stage of disease and histological type. Despite aggressive treatment that includes surgery and chemotherapy, women with these tumors have a significantly increased risk of death giving them a very poor prognosis. The poor prognosis associated with this rare disease represents a need to new therapeutic regimens to improve patients' survival. We experienced two cases of primary malignant mixed mullerian tumor of the ovary.
Diagnosis ; Drug Therapy ; Female ; Humans ; Ovary* ; Prognosis ; Rare Diseases

Malignant mixed mullerian tumor of the ovary are very aggressive tumors that were usually diagnosed at an older age. They are usually at an advanced stage at the time of diagnosis, and survival after diagnosis varies by stage of disease and histological type. Despite aggressive treatment that includes surgery and chemotherapy, women with these tumors have a significantly increased risk of death giving them a very poor prognosis. The poor prognosis associated with this rare disease represents a need to new therapeutic regimens to improve patients' survival. We experienced two cases of primary malignant mixed mullerian tumor of the ovary.
Diagnosis ; Drug Therapy ; Female ; Humans ; Ovary* ; Prognosis ; Rare Diseases

Interest in rare diseases research and orphan drugs development has been increased distinctly in recent years. The number of affected people with rare diseases is considerable around the world and the formulation of national and international incentive policies to accelerate orphan drugs development, aiming at offering facilities and necessary conditions for patient access to treatment, gains favorable results. In particular, more measures should be taken to catalyze further progress due to behindhand level in this field in China. Additionally, therapeutic methods of rare diseases were also discussed.
China ; Humans ; Orphan Drug Production ; Rare Diseases ; genetics ; therapy

In recent years, China's anti-tumor drugs has shown a continuous growth trend, and the activity of anti-tumor research and development in China accounts for a higher proportion in the world. However, further analysis of research and development hotspots show that the research and development of anti-tumor drugs is uneven among different tumor types. Due to the small number of the patients, it is difficult to conduct clinical trials, resulting in less drug development in the field of rare tumors. However, patients' treatment needs will also bring potential opportunities for pharmaceutical companies. The development of basic research and the discovery of new molecular tumor typing make "rare tumors" a dynamic concept. The scope of "rare tumors" may gradually expand with the precise development of treatment; or as the knowledge of tumors gradually develops from histocytology to the molecular level, It is possible that certain tumors with specific mutations can be combined into a group of non-rare "pan-tumors". Rare tumors are characterized by both rare diseases and tumors. Its drug research and development should not only meet the requirements of tumor drug research and development, but also adapt to the characteristics of rare diseases. Therefore, in the drug research and development, we can refer to the research and development principle of rare disease drugs, combine with the characteristics of tumor diseases, make full use of non-rare tumor clinical trials, make full use of scientific tools and exquisite trial design, and realize the promotion of the research and development of rare tumor drugs. This paper will summarize the thoughts in the review of new drugs in the field of rare tumors, in order to provide guidance for the industry.
.
Antineoplastic Agents/therapeutic use* ; China ; Humans ; Lung Neoplasms/drug therapy* ; Rare Diseases/drug therapy* ; Research

There are more than 7 000 rare diseases and approximately 475 million individuals with rare diseases globally, with children accounting for two-thirds of this population. Due to a relatively small patient population and limited financial resources allocated for drug research and development in pharmaceutical enterprises, there are still no drugs approved for the treatment of several thousands of these rare diseases. At present, there are no drugs for 95% of the patients with rare diseases, and consequently, the therapeutic drugs for rare diseases have been designated as orphan drugs. In order to guide pharmaceutical enterprises to strengthen the research and development of orphan drugs, various nations have enacted the acts for rare disease drugs, promoted and simplified the patent application process for orphan drugs, and provided scientific recommendations and guidance for the research and development of orphan drugs. Since there is a relatively high incidence rate of rare diseases in children, this article reviews the latest research on pharmacotherapy for children with rare diseases.
Humans ; Child ; Rare Diseases/drug therapy* ; Orphan Drug Production ; Pharmaceutical Preparations

Malignant melanoma is a very rare disease in children. There is an increased risk for the development of malignant melanoma in patient with giant congenital melanocytic nevus. The manifestations of distant metastases in malignant melanoma commonly indicate a poor prognosis. First line treatment of malignant melanoma is excision, but when associated with giant congenital melanocytic nevus, excision is very difficult due to the site and the size of the lesions. However, malignant melanoma is not sensitive to chemotherapy, but a child is more sensitive than an adult. We report a case of unresectable childhood malignant melanoma associated with a giant congenital melanocytic nevus in a 3 year-old female treated with chemotherapy.
Adult ; Child* ; Child, Preschool ; Drug Therapy ; Female ; Humans ; Melanoma* ; Neoplasm Metastasis ; Nevus, Pigmented ; Prognosis ; Rare Diseases

OBJECTIVES: Aspergillosis of central nervous system(CNS) is a rare pathologic condition and it has been known to be difficult to diagnose and treat. We analyzed seven cases of central nervous system aspergillosis. The clinical characteristics, and the problems in diagnosis and treatment are discussed with review of previous literatures. MATERIALS AND METHODS: We reviewed the clinical records, radiological findings, and pathologic reports of 7 patients with aspergillosis which involved CNS. RESULTS: Five patients were immunocompetent, and infection was related with previous operation in 4 of them. Two patients were immunocompromised and had no history of operation. Five patients had intracranial lesions and two had spinal lesions. Mean duration from the onset of initial symptom to pathologic diagnosis was 2.4 months. Mean duration from the previous operation to the onset of symptom was 9.3 months, and from the onset of symptom to diagnosis was 2.9 months in the patients who had histories of operation. All of them were treated with surgical procedures and intravenous and oral antifungal agents, resulting in cure in 6 cases. Mean duration of the treatment was 4.9 months. CONCLUSION: Because aspergillosis of CNS is a rare disease and is difficult to be differentiated from the pyogenic abscess or recurrent tumor, the pathologic diagnosis is very important for adequate treatment. Although the prognosis of aspergillosis of CNS has been known to be poor, adequate surgery for both diagnosis and treatment and antifungal chemotherapy resulted in good outcome.
Abscess ; Antifungal Agents ; Aspergillosis* ; Central Nervous System* ; Diagnosis ; Drug Therapy ; Humans ; Prognosis ; Rare Diseases

Mucosal melanoma is a very rare disease. Most cases of mucosal melanoma have their origins in the head and neck region. To date, only three cases of melanoma originating from the eustachian tube have been reported. We present a case of mucosal melanoma of eustachian tube origin in which a complete excision was performed. The treatment of mucosal melanoma is not well established, but surgical excision is considered to be the treatment of choice. Radiotherapy is controversial but given consideration in the present case because of the anatomic complexity and difficulty in performing a complete excision. In this case, the patient underwent adjuvant radiotherapy and the mass size was greatly decreased which aided the subsequent surgical excision. Systemic chemotherapy was not utilized in this case. However, it is often used for palliative purposes. A literature review was conducted in the presentation of this case.
Drug Therapy ; Eustachian Tube* ; Head ; Humans ; Melanoma* ; Neck ; Radiotherapy ; Radiotherapy, Adjuvant ; Rare Diseases

Small cell carcinoma (SCC) of the gallbladder is a rare disease. It is an aggressive tumor that tends to metastasis early and is associated with poor prognosis. Median overall survival is reported to be approximately 13 months. Metastatic disease has a worse prognosis, and median overall survival is reported to be approximately 4 months. A 65-year-old male patient was diagnosed with the SCC of the gallbladder and was treated with cisplatin/etoposide chemotherapy followed by radiation therapy. Here, we describe the case of the SCC of the gallbladder who survived more than 3 years followed by the review of the literatures on this disease.
Aged ; Carcinoma, Small Cell* ; Drug Therapy* ; Gallbladder* ; Humans ; Male ; Neoplasm Metastasis ; Prognosis ; Rare Diseases

Leiomyosarcoma of the penis is an extremely rare disease. We experienced a patient with a leiomyosarcoma on the ventral preputial skin of penis in a 45-year old man. The patient was treated with local wide excision with chemotherapy. Herein, we report this case with the review of literature.
Drug Therapy ; Humans ; Leiomyosarcoma* ; Male ; Middle Aged ; Penis* ; Rare Diseases ; Skin