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General and Digestive Surgery, General Hospital
Sarcomas are an uncommon type of cancer that account for only 1-2% of all tumours in adults. They also represent a complex entity, given that there are more than 70 types, with differences in terms of their diagnosis, prognosis and treatment. Accordingly, sarcoma patients need to be assessed by multidisciplinary committees with vast experience in this disease.
Sarcomas are a set of rare tumours whose origin lies in the soft tissues of the body or the bones.
Soft tissues include muscles, nerves, vessels and fat. These tissues may also form part of organs.
The infrequency of sarcomas makes it necessary to handle clinical cases and their treatment on an individual basis, which generally involves a decision-making process that is shared by several professionals with expertise in this disease and the patients themselves.
The correct diagnosis of a sarcoma and its specific type is the first critical step to be taken, as it will form the basis of the clinical handling of the patient, as well as the precise information about the nature of their disease.
In contrast to many cancers, sarcomas do not usually generate symptoms in their early stages of growth. This is because they develop in areas of the body in which they can progressively grow by pushing against structures and organs.
The first symptom may be a painless lump. The majority of lumps are benign, but if it grows quickly, hurts, is deep and/or measures more than 5 centimetres, it is more likely to be a sarcoma. Sometimes the symptoms may appear as a result of excessive compression of the body’s various tissues and organs.
There is no clear factor that triggers a sarcoma. Certain inherited genetic syndromes may predispose a person to being more likely to develop a type of sarcoma, such as Li–Fraumeni syndrome, neurofibromatosis or familial adenomatous polyposis.
One of the most important steps is to confirm the clinical suspicion of sarcoma and identify its specific type. This requires a biopsy to obtain a fragment of the tumour so it can be studied by Pathological Anatomy.
It is sometimes diagnosed with molecular techniques in association with radiological tests like x-rays, computed tomography (CT), magnetic resonance imaging (MRI) or PET-CT.
The treatment of all sarcoma patients is always agreed by multidisciplinary committees composed of professionals with expertise in sarcomas from a variety of the services of our centre: Medical Oncology, Radiation Oncology, Traumatology, General Surgery, Radiology and Pathological Anatomy.
Given that sarcomas may arise in any part of the body, occasionally other specialists may also participate.
The treatment of sarcoma patients may include:
The most suitable procedure depends on a number of different factors in addition to the specific type of sarcoma. Targeted therapy and immunotherapy play a very important role in certain types of sarcoma. Finally, there are also clinical trials that experiment with new therapies.
The commonest are radiological tests like those described above (x-ray, CT, MRI and PET-CT).
As there is no specific cause of sarcomas, in the majority of cases there are no specific measures that can be taken beyond the usual healthy living habits recommended by the World Health Organization.
Patients with inherited genetic syndromes, however, are advised to undergo monitoring in specialist units.
Cancer is characterised by excessive and uncontrolled cell growth that invades and damages tissues and organs. It is a multi-factor illness that is caused by a combination of genetic and environmental factors. Most cancers are sporadic, but some 5 to 10% of cancer diagnoses involve a hereditary genetic origin. This means that specific genes, called cancer susceptibility genes, present germ cell abnormalities (found throughout the body) that increase the risk of developing cancer. It's important to point out that cancer is NOT hereditary, but the predisposition to developing it is. Having genes that are associated with cancer susceptibility simply means you have a higher risk of having the disease, not that you will have cancer for sure. This genetic predisposition can be transmitted from parents to offspring, normally following an autosomal dominant inheritance pattern, meaning that there is a 50% chance of passing the gene to descendants. In some cases, the genetic susceptibility is individual and caused by a combination of multiple genetic differences (a combination of low-risk polymorphisms or allele variants). Identifying a genetic abnormality known to increase the risk of developing cancer in a family allows its members to benefit from early cancer detection and prevention measures, as well as to seek specific, targeted treatments against that type of cancer.
There are different genes associated with an increased risk of falling ill with cancer. Among the most frequent and well known are the genes:
The genes APC and MUTYH, linked with familial adenomatous polyposis –the formation of a large number of adenomatous polyps (non-malignant tumours) in the colon– and colon cancer.
There are different clinical criteria that may arouse the suspicion that an individual has a hereditary genetic abnormality that predisposes them to certain kinds of cancer, such as:
When these criteria are detected, they are referred to the genetic assessment unit specialising in cancer, where the need to perform a genetic study to rule out the possibility of a hereditary predisposition to cancer will be determined. This multi-disciplinary unit is staffed by physicians who are specialists in hereditary cancer and genetic counsellors. Here, an individual risk assessment, genetic tests, and follow-up for the carriers of the gene are carried out.
There are different syndromes that involve a genetic predisposition to developing cancer. For example, there are different genes that can make someone have a genetic predisposition to breast cancer.The most common are:
The genetic predisposition to developing colon cancer can be divided into two types: polyposic and non-polyposic.
There are different types of polyposic colon cancer. Familial adenomatous polyposis (FAP) presents the highest risk for developing colon cancer. It is characterised by hundreds or thousands of polyps in the colon, and sometimes also throughout the entire digestive tract. These polyps are not malignant lesions, but they can degenerate and develop into cancer.Thus, individuals with FAP end up developing colon cancer if these polyps are not removed. Pathogenic alterations in the APC gene are responsible for this condition. In addition, carriers of APC gene mutations are also at risk for other tumours or conditions (hepatoblastoma, thyroid tumours, and desmoid tumours).
The main syndrome entailing a predisposition to non-polyposic colon cancer is Lynch syndrome. This syndrome entails a high risk of developing colon and endometrial cancer, along with a risk of developing ovarian, bile duct, urinary tract, and gastric cancer. It is caused by mutations in the genes that are in charge of DNA repair, specifically, those tasked with mismatch repair, namely MLH1, MSH2, MSH6, PMS2, and EPCAM.
We can also find a genetic predisposition to endocrine tumours. Pheochromocytomas and paragangliomas are rare tumours that are caused by a hereditary genetic abnormality in 40% of cases. These can be caused by abnormalities in the succinate-dehydrogenase-encoding genes (SDHx), RET gene (MEN2 syndrome), MEN1 gene, NF1 gene (neurofibromatosis type 1) or FH gene, among others.
A genetic diagnosis is usually done with a blood sample, but a saliva sample or skin biopsy can also be used. DNA (present in the nucleus of our cells) is extracted from this sample for analysis.
There are different techniques for carrying out genetic studies. Currently, at our centre, we perform gene panel studies. This entails analysing different genes linked with the genetic predisposition to cancer to rule out any abnormality in them; this is also called gene sequencing.
When a genetic abnormality is found in a family, a predictive study is carried out. This kind of study determines if an individual also presents the genetic abnormality detected in the family.
Depending on the genetic change found, different measures for early detection and prevention can be recommended. For example, individuals with a mutated BRCA1/2 gene should begin to undergo an annual breast check-up, with a breast MRI and a mammogram, from the time they are 25-30 years old. Individuals with Lynch syndrome should get annual colonoscopies from the age of 25 onward.
Depending on the type of genetic disorder, risk reduction surgeries can also be an option. For example, in individuals diagnosed with FAP, depending on the number of polyps they have, a prophylactic colectomy (removal of the colon) can be performed to reduce their risk of developing colon cancer.
Follow-up and prevention measures are determined on an individual basis in the corresponding specialist's medical consultation. Additionally, at the medical office in charge of hereditary cancer, a reproductive genetic assessment is offered, depending on the genetic abnormality.
A hiatal hernia is when the upper part of the stomach moves from the abdomen to the thorax above the diaphragm muscle.
This means that the acidic content of the stomach can easily go up into the oesophagus, leading to a chemical irritation known as oesophagitis.
This condition affects approximately 20% of the population, although knowing exactly how many people suffer from it is difficult because some of them do not present any symptoms at all. Those that experience symptoms usually suffer from acidity, abdominal discomfort, difficulty swallowing, bad breath or a dry cough.
We do not really know why hiatal hernias occur.
The diaphragm is the muscle that separates the thorax from the abdomen. The diaphragm's hiatus is one of the anatomic structures that help to keep the oesophagus (intrathoracic) and the stomach (intraabdominal) in position. If the stomach is displaced towards the thorax, its gastric content, which is very acidic, can easily go back up the oesophagus. The existence of a hiatal hernia is one of the causes of acid reflux, but not the only cause.
When suffering from a hiatal hernia, a patient may have acid reflux, with the consequence being a chemical irritation from the stomach acid on the lining of the oesophagus. This leads to a form of inflammation, known as oesophagitis, which is very painful.
Such pain is located close to the heart, which is why it needs to be distinguished from the pain caused by angina or pericarditis.
There may also be no symptoms of a hiatal hernia.
Hiatal hernias are very common and can affect 20% of the population at some point in their lives. It can also be an incidental x-ray finding in >40% of the asymptomatic population. Incidence increases with age and is most common in the over-50s.
Diagnosis of a hiatal hernia is based on demonstrating the abnormal position of the stomach and almost always the presence of acid reflux.
Oesophagogram:
The oesophagus and the stomach can be X-rayed, as can the swallowing process and reflux. A substance must be taken that shows up as opaque on X-ray images in order to be able to see the aforementioned structures.
Digestive endoscopy:
A flexible tube is inserted into the mouth, containing a camera for imaging the oesophagus and the stomach. This enables the position of the oesophagus and the stomach to be observed and the degree of inflammation detected.
Oesophageal manometry:
During this test, a probe is inserted through the nose that allows pressure changes in the oesophagus to be observed during swallowing and detects abnormalities in the way it is functioning.
24-hour pH (acid) monitoring
Acid monitoring with a probe that is inserted through the nose and assesses the amount of acid reflux from the stomach to the oesophagus over a 24-hour period.
Hiatal hernias are treated if there is severe acid reflux or excessive compression (strangulation) in the part of the stomach that is displaced.
Medical treatment of the hiatal hernia is done using hygienic-dietetic measures, such as lifting the head of the bed, not eating copious amounts of food, light dinners and medications that counteract or decrease stomach acidity.
If the patient does not respond to medical treatment, surgical correction of the hiatal hernia can be performed to reposition the stomach intraabdominally.
Surgery can be performed by laparoscopy.
The core of this teaching unit is provided by the General and Digestive Surgery Department, with participation from Anaesthesia, Radiodiagnosis, Thoracic Surgery and Vascular Surgery.
Training itinerary for General Surgery and Digestive System
The Urology Teaching Unit is led by the Vall d’Hebron Urology Department, with participation from other specialisations such as General Surgery, Nephrology, Intensive Care Medicine, and Paediatric Urology.
Urology training itinerary
Urology deals with the study, diagnosis and treatment of medical-surgical conditions associated with the urinary and retroperitoneal system of both sexes. It also includes the male reproductive system of any age group, that may have congenital, metabolic, obstructive or oncological disorders, or injuries due to trauma.
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