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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 rare chronic blood disease that is slow to develop. It is characterised by increased platelet production and is associated with greater risk of thrombosis (clotting) and bleeding. Patients with essential thrombocythemia are usually asymptomatic and it is detected during routine blood tests. There is currently no cure for this condition and treatment is targeted at preventing complications. It is included within the group of chronic myeloproliferative disorders, which are a type of blood cancer that is slow to develop. Its cause is not known, although there are mutations known to be associated with the condition in 80% of cases. It is not hereditary, but some families may have several members affected by it.
It is characterised by increased platelet production and is associated with greater risk of clotting in the arteries and veins, or in some cases with bleeding.
It is a chronic illness that cannot currently be cured, with a normally benign evolution. It can be effectively controlled over long periods and generally has little impact on daily activities and work. Patients with this condition have increased risk compared to the general population of developing other blood diseases, such as acute leukaemia or myelofibrosis.
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Many patients show no symptoms, either when they are initially diagnosed or as the condition evolves. Different combinations of symptoms may appear, such as tiredness, itching, night time sweating, aching bones and headaches.
The severity of symptoms varies a lot depending on the patient.
It is considered a rare disease, with a low incidence of 1.5-3 cases per 100,000 inhabitants. It mainly affects people aged 60-70 years and to a lesser extent young people. It is more common in women
It is normally diagnosed through blood tests that show a sustained increase in platelet count.
A bone marrow biopsy can be performed for diagnosis, which, together with the analysis, will allow the determination of risk factors for the progression of the disease, which in turn guide treatment.
It is usually associated with genetic mutations that support diagnosis.
Administering antiplatelets or drugs to reduce the number of platelets is not always indicated.
The aim of treatment is to prevent complications due to clotting and bleeding, as well as controlling the symptoms related to this condition. Depending on the risks and symptoms, the haematologist will therefore determine when to start treatment.
There are special circumstances, such as pregnancy, in which a multidisciplinary approach is required.
It is usually controlled by analysis.
The most important thing is to prevent clotting complications associated with this condition by controlling cardiovascular risk factors (high blood pressure, dyslipidaemia, smoking, obesity, sedentary lifestyle) and following the treatment recommended by your haematologist.
A rare slow-growing chronic blood cancer. It is mainly characterised by increased production of red blood cells, associated with greater risk of clotting, both in veins and in arteries. It has non-specific symptoms, such as increased facial redness and bodily itching. Although there is currently no cure, it can be effectively controlled.
It is included within the group of chronic myeloproliferative disorders. Its cause is not known, although there are known mutations associated with it in the JAK2 gene that occur in 98% of cases. It is not hereditary, but some families may have several members affected by it.
It is characterised by increased production of red blood cells (the number of white blood cells and platelets may also go up) and is associated with increased risk of clotting in arteries or veins.
It is a chronic disease, which cannot currently be cured. It can be effectively controlled over long periods and generally has little impact on daily activities and work. Patients with this condition have increased risk compared to the general population of developing other blood diseases, such as acute leukaemia or myelofibrosis.
There may initially be no symptoms. Facial redness is characteristic of this condition. Patients often present with tiredness, headaches, dizziness and itching (particularly after showering). They may also experience abdominal pain due to increased spleen size.
It mainly affects patients around 60 years old and is a little more common in men than in women.
Mainly done through an analysis revealing high levels of haemoglobin and haematocrits. The number of platelets and white blood cells may also be elevated. A molecular test is also sometimes conducted (JAK2 gene mutation). Other tests may sometimes be needed to complete the diagnosis, such as a bone marrow biopsy.
Treatment aims to prevent complications and control symptoms. It is based on decreasing excess red blood cells by phlebotomies (blood extractions performed in the blood bank). Except for some contraindications, patients require antiplatelets (acetylsalicylic acid). Other drugs to reduce red blood cells may also be indicated.
The most important thing is preventing clotting complications associated with this condition by controlling cardiovascular risk factors (high blood pressure, dyslipidaemia, smoking, obesity, sedentary lifestyle) and following the treatment recommended by your haematologist.
They are a heterogeneous group of blood stem cell cancers characterised by altered haematopoiesis (production of blood elements), which results in normal or hypercellular bone marrow, but due to a high rate of death in blood cells in the bone marrow, peripheral blood cells are scarce (cytopaenia) and morphologically abnormal (dysplasia).
Clinical progression in patients with MDS varies and they may be at increased risk of developing acute leukaemia, depending on the subtype of MDS.
They may appear de novo or secondary to cytotoxic treatments or radiotherapy.
Patients with MDS often show no symptoms and diagnosis occurs as a result of analytical testing. When symptoms do appear, however, they are most often secondary to cytopaenia. The most common are weakness, paleness, palpitations or feeling short of breath with exertion due to decreased haemoglobin (anaemia). Sometimes, infections may appear as a result of lack of white blood cells (neutropaenia) or bleeding due to the low number of platelets (thrombocytopaenia). These symptoms are not specific to the condition and therefore those with persistent appearance of these symptoms should consult their GP.
MDS are not common conditions. 3-4 new cases are detected each year for every 100,000 people. They are more common in patients over 65 years old (75 cases/100,000 people) and they are twice as common in men as in women.
The diagnostic process begins with an analysis to look for cytopaenia. Once other causes that may justify cytopaenia are ruled out, a bone marrow exam is conducted using bone marrow aspiration (this is the organ responsible for producing the blood elements).
Bone marrow aspiration consists of a puncture in the breastbone or in one of the pelvic bones, performed with a fine needle under local anaesthesia. 4-10 ml of bone marrow is extracted through aspiration. In rare cases, it is necessary to remove a bone core by puncture biopsy with a thick needle (Tru-cut). Sometimes, the test needs to be repeated after some time to confirm the diagnosis.
Treatment will depend on the biological characteristics of the condition and the patient’s general state of health.
It is based on:
1. Support treatment through blood transfusions.
2. Treatment using drugs that aim to restore correct bone marrow function.
3. Bone marrow transplant. Replacing the bone marrow of the person affected with that of a healthy person who is immunologically compatible. This option is very aggressive and can therefore only be offered to a certain group of young patients in good physical health and affected by a specific group of MDS.
4. Clinical trials. Studies that use new drugs with proven efficacy in this group of conditions.
Lung cancer is the general name for neoplastic lung disease in which there is the presence of tumour cells. There are different types of lung cancer, but all of them share tobacco use as a risk factor. It is usually detected by the symptoms it causes, but it can also be an incidental finding in an examination conducted for a different reason.
Lung cancer originates when a set of cancer cells proliferates and produces a local compromise in the space occupied. These cells have a tendency to spread (metastasis) to other organs and, as their biological behaviour is completely abnormal, they produce atypical neurological, dermatological or endocrine signs. There are different types of lung cancer from a cell classification perspective, which require different treatments and prognosis. Lung cancer is always a serious illness, with an overall low survival rate estimated at 20% of patients after 5 years.
Research into this disease in the last few years has led to new treatment strategies, which in some cases cause the disease to go into remission for long periods.
90% of people will have symptoms caused by local tumour growth, including non-specific respiratory symptoms such as coughing and difficulty breathing, or in some cases coughing up blood.
There can also be a wide variety of symptoms: pleural effusion (presence of fluid in the pleura), involvement of the nerve roots that pass through the chest, skin disorders and endocrine disorders because the tumour may produce products that are similar to normal hormones.
It affects both sexes, with a predominance in males. Incidence of lung cancer in women has shown a very worrying increase in the last few years. Although it can be seen in people who have never smoked, a history of smoking is almost always found.
A suspected diagnosis will be made in the clinic and imaging tests will then be conducted in the following order: Chest x-ray, CAT, PET-CT to confirm the suspicion. The types of cells involved will then be ascertained through pleural tap or bronchoscopy. Final diagnosis is always reached by confirming the presence of tumour cells, which is done by the Pathological Anatomy Department.
Lung cancer treatment must be personalised. Surgery can play its role, both in diagnosis and in treatment, as well as radiotherapy, chemotherapy, immunotherapy and the use of biological drugs aimed at blocking certain cell receptor, which are different in each patient.
The typical tests for diagnosis are chest radiography, CAT, PET-CT, pleural aspiration/tap and bronchoscopy.
In order to prevent lung cancer, completely abstaining from tobacco use is essential. Exposure to certain environmental toxins specific to some working environments, such as arsenic, asbestos and chrome should also be avoided.
Myelofibrosis is included within the group of chronic myeloproliferative disorders. It may appear de novo (primary) or following polycythaemia vera or essential thrombocythaemia.
It is characterised by bone marrow fibrosis, progressive defect in blood cell production and marked presence of constitutional symptoms, as well as an enlarged spleen and liver that attempt to compensate for the production of red blood cells.
Approximately one third of patients have no symptoms. Diagnosis is made by studying alterations in control analyses.
The symptoms appear gradually, with marked tiredness, night time sweating, fever, loss of muscle mass, loss of appetite and abdominal pain being the most common. They are not exclusive symptoms of this disease, so if they are present, it is advisable to consult your GP who will refer you to the corresponding haematology department if they suspect a diagnosis of myelofibrosis.
It is a disease that can remain stable for a long time, or present in very symptomatic forms.
It is considered a rare disease, with a low incidence of 5-7 cases per million inhabitants per year. It mainly affects people aged 60-70 years.
Diagnosis begins with the study of the aforementioned symptoms, of alterations in the physical examination (such as an increase in spleen size) or of alterations in the analysis such as anaemia, decreased white blood cells and platelets, among others.
A bone marrow biopsy can be performed for diagnosis, which, together with the analysis, will allow the determination of risk factors for the progression of the disease, which will guide treatment.
Treatment is determined by the risk of disease progression, patient characteristics and the presence of symptoms.
The only curative treatment for the moment is blood stem cell transplant, which can be offered to a small group of patients, as it usually presents in older patients who are not candidates for this type of treatment.
Therefore, the main goal of treatment today is to control symptoms and prevent complications. Drugs such as erythropoietin, danazol and others, including blood transfusions, are used to control symptoms related with anaemia.
To control symptoms or increased spleen size, hydroxyurea and ruxolitinib are mainly used.
Clinical trials exist that seek to improve current treatment. Consult your haematologist to find out which are available.
It is usually monitored with analyzes.
Acute leukaemia involves abnormal cell growth in the haematopoietic system characterised by significant proliferation and accumulation of immature cells, firstly in the bone marrow and subsequently in the blood, with a great degree of clinical and biological heterogeneity. Acute leukaemias are clonal proliferations (tumour cells that originate from a single initial cell and accumulate various genetic mutations that result in development of the disease) of altered blood stem cells. In normal circumstances, multipotent stem cells give rise to haematopoietic cells, which give rise to blood cells via a process of cell proliferation and differentiation mediated by the cell’s own mechanisms and by the surrounding tissues. Under normal conditions, blood cells migrate to the blood and tissues and are indispensable for the body to function correctly.
In acute leukaemias, the accumulation of different genetic and molecular alterations gives rise to the progressive accumulation of these cells, which substitute normal blood cells in a process known as "hiatus leukemicus", whereby progenitor cells (blasts) do not mature and accumulate in the bone marrow and peripheral blood. The symptomatology may be very mild and non-specific initially, resulting mainly from the lack of blood cells and sometimes from tissue infiltration. These are very serious diseases that require chemotherapy treatment to control them and often a transplant of bone marrow progenitor cells.
In many cases there are at first no major symptoms. Any symptoms there are mainly derive from the lack of blood cells and include tiredness, bleeding, infections and on rare occasions lack of appetite, bone pain, breathing difficulty or neurological symptoms. A physical examination may reveal palpitations, bruises, bleeding from mucus membranes, fever, infiltration of gums or other organs (skin, spleen, liver, etc.).
The average age for acute leukaemia is generally 67 years, but it can affect people of any age. Acute leukaemia is the most common cause of abnormal cell growth in children, with lymphoid leukaemia being the most common. Myeloid leukaemia is more common in the adult population.
A suspected diagnosis is reached in a number of ways, including clinical history, physical examination and a blood test. The diagnosis is confirmed using bone marrow aspiration in which we study neoplastic cells (blasts) under a microscope, as well as conducting multiparametric flow cytometry, cytogenetic analysis and molecular biology tests.
Based on chemotherapy. New drugs are currently being developed, such as immunotherapy or treatment against specific biological alterations (personalised treatment). If not contraindicated, a transplant of haematopoietic progenitor cells may be required once the response has been reached. Therapeutic strategies are adapted on the one hand to the patient’s situation (age, concomitant diseases, etc.) and on the other hand to the biological characteristics of the disease.
Full blood test and bone marrow aspiration.
Unfortunately, there is no way of preventing acute leukaemia from developing. The mechanisms that lead to a person developing this disease are not exactly known. We do know some factors that may be related, such as chemotherapy or radiotherapy in the past or exposure to certain toxins. A predisposition in some congenital diseases has also been observed, as well as cases where there is a family history of the disease.
The most common form is chronic myeloid leukaemia and this sheet refers exclusively to this form of leukaemia. It is a form of abnormal cell growth (neoplasia) that originates in immature multipotent blood cells (stem cells) and gives rise to red blood cells, platelets and white blood cells.
It is characterised by cellular proliferation of white blood cells with cytogenetic alteration that consists of the appearance of an abnormal chromosome known as the Philadelphia chromosome. The Philadelphia chromosome is also seen in other processes, such as acute lymphoblastic leukaemia, and diagnostic differentiation is required to distinguish which process is occurring. Chronic myeloid leukaemia may also involve red blood cell and platelet disorders, and is characterised by its chronicity. This disease serves to illustrate the revolution that has taken place in the last few years with targeted therapies in abnormal blood cell growth.
These are not very specific: Usually marked by tiredness, anaemia, loss of appetite.
This disease has a low incidence (1-1.5/100,000 pop./yr) and low mortality (more than 90% survival in the last 5 years). It mostly affects middle-aged people (40-50 years), although it can occur at any age.
A physical examination often reveals spleen growth. Blood tests show a very significant increase in white blood cells and bone marrow aspiration should be conducted to confirm. Genetic and molecular biology tests are also conducted.
The treatment most used is tyrosine-kinase inhibitors. It is an oral, chronic and relatively well tolerated treatment, including Imatinib: it is the first drug that was described, and the most commonly used. Side effects include submalar skin pigmentation (aesthetic problems), nausea and vomiting, which are often mild.
As there is some resistance to this drug, new drugs need to be developed to stop the other proliferation pathways of the affected cells.
Physical examination, blood test, bone marrow aspiration.
A tumour is an abnormal growth of tissue. In the case of orbital tumours, this growth is located in the tissues around the eye, which may be muscles, bones, fat, the lacrimal gland, nerves and blood vessels. They are rare tumours of several different types that may appear at any age. Orbital tumours may be benign or malignant. Benign tumours may cause pain due to compressing or displacing the different structures in the eye socket. Malignant tumours, on the other hand, as well as spreading to neighbouring tissue, may produce metastasis in other unconnected organs or lymphatic nodules.
The most common symptom is a protrusion of the eyeball out of its socket, known as “exophthalmos”. However it can also cause loss of vision due to compression of the optic nerve, double vision, pain and can limit the movement of the eyeball.
In some cases, tumours may be present in the eye socket for an entire lifetime with no symptoms.
It is hard to know the exact number of people affected by orbital tumours as it is a rare kind of tumour that includes several variants.
Benign tumours are the most common; capillary haemangiomas and dermoid cysts in children, and cavernous haemangiomas in adults.
The most common malignant tumours in children include rhabdomyosarcoma, and in adults lymphoma cancers of the lacrimal gland and metastases.
Imaging studies (CT and nuclear magnetic resonance scans) allow precise location of the tumour, its size to be measured and certain biological characteristics to be known. This information, together with the patient's age and the speed of the tumour's growth, enables an initial assessment of whether or not it is malignant.
A definitive diagnosis is made after a biopsy of part or all of the tumour.
In most cases, the main treatment is surgery to remove the tumour and therefore avoid the damage it may cause if left to grow within the eye socket by compressing or displacing the eyeball and other structures.
Modern-day orbital surgery techniques allow extraction of the tumour by making small incisions in areas that are hidden or not very visible. This enables faster postoperative recovery.
In the case of malignant tumours, different combinations of surgery, radiotherapy and chemotherapy are used. It should be noted that regular check ups are needed after treatment.
Where there are no symptoms, observation and monitoring of the speed of growth is usually sufficient.
There are currently no preventative guidelines to reduce the risk of orbital tumours.
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