■Reporter Cheng Xue
“Porcelain Doll” (Osteogenesis Imperfecta), “Moon Child” (Albinism), “Children who Don’t Eat Human Fireworks” (Phenylketonuria), etc. Rare disease. The prevalence of these diseases is low, rare, and often life-threatening. Today is International Rare Disease Day. Caring for patients with rare diseases starts with understanding. Next, Fang Meiyu, Chief Physician and Chief Physician of Rare Diseases and Head and Neck Medicine of the Cancer Hospital Affiliated to the University of Chinese Academy of Sciences (Zhejiang Cancer Hospital), and Li Tao, Chief Physician and Chief Physician of Bone and Soft Tissue Surgery, will introduce a kind of uncommon, but really terrible science to everyone. Rare Diseases – Cardiac Sarcoma.
Across tens of thousands of miles for medical consultation
A few days ago, in a conference room of the Cancer Hospital Affiliated to the University of Chinese Academy of Sciences (Zhejiang Cancer Hospital), from the Department of Bone and Soft Tissue Surgery, Rare disease and head and neck medicine, pathology and other multidisciplinary experts gathered together, quietly staring at the connected video screen – a Chinese couple in Germany is seeking better treatment for their son with cardiac sarcoma.
The reason why the couple traveled thousands of miles to the Provincial Cancer Hospital for treatment started with an English-language paper published in an authoritative oncology journal. Fang Meiyu said, “Last year, our team published a paper on the analysis of cardiac sarcoma, its causes, treatment options, and prognosis, and the couple was seeking medical treatment for their son, and accidentally found ours on the Internet. Thesis, then contact us.”
The couple are Chinese and have lived in Germany for many years. The patient was born in 2003, with a height of 188 cm, a sunny and lovely high school student. Last year, the boy who was supposed to be energetic always showed chest tightness and shortness of breath. Even after a period of rest, the symptoms did not disappear. Later, after examination at the local hospital, it was found that he had pleural effusion and metastases to the lungs. Cancer cells were found after puncture and drainage. The 18-year-old boy was finally diagnosed with advanced cardiac sarcoma.
Although the local hospital in Germany has given treatment plans to prolong life and improve the quality of life, and the patient has undergone chemotherapy, the family members hope to find a more active treatment plan. Up to now, the Provincial Cancer Hospital has conducted two online consultations with the patient’s family. In the second video connection, the discussions between the doctors and experts present also revolved around whether the patient’s current condition could be operated.
The incidence of cardiac sarcoma is less than one in ten million
As a rare disease, how rare is cardiac sarcoma? Li Tao introduced a set of data: the incidence of all sarcomas is 4 in 100,000, and the incidence of cardiac sarcoma is less than 1 in 10 million – this probability is lower than the probability of winning 5 million. As far as my country is concerned, there are about 40,000 new cases of sarcoma in the country every year, and the annual number of patients with cardiac sarcoma treated by the provincial cancer hospital should be in single digits.
Cardiac sarcoma is a primary malignant tumor of the heart, and most patients are adolescents. It can occur anywhere in the heart, but is more common on the right side, especially the right atrium. Chest tightness and shortness of breath are common symptoms in patients with cardiac sarcoma, and both sensations do not diminish with rest.
At present, the pathogenesis of cardiac sarcoma is still unclear, which may be related to genes, environment, radiation and other factors. Fang Meiyu once met an elderly patient with cardiac sarcoma. She had breast cancer. During the treatment, the part where the radiotherapy was performed was irradiated, resulting in cardiac sarcoma and osteosarcoma.
At present, it is difficult to screen out cardiac sarcoma in our country’s routine physical examination. “Actually, many rare diseases cannot be found through physical examination screening.” Li Tao said, taking sarcoma as an example, it often appears in the limbs, spine, and heart, which are not within the scope of physical examination.
“Yes, routine physical examinations do not cover rare diseases adequately.” Fang Meiyu believes that physical examination packages can be more personalized. For example, for young people, parents can try to add some imaging and ultrasound examinations during physical examinations .
In the treatment of cardiac sarcoma, if the sarcoma is small and the disease is detected early, surgical resection can be performed. For patients who cannot undergo surgical resection, or those who have undergone surgery but whose tumor recurs at a later stage, chemotherapy-based, targeted therapy and other supplementary treatment methods are usually adopted. Once this happens, most patients have only ten years of life left. months.
Compared with the treatment of common tumors such as gastric cancer and lung cancer, there are few guidelines and norms for the treatment of rare tumors. “As clinicians, we are committed to exploring better treatment options for rare diseases, and we also expect the country to increase the research and development of new and specific drugs for rare diseases to benefit these ‘minority’ patients.” Fang Meiyu said.