29.03.2024

Nepalipatra hereditary colorectal carcinoma

Nepalipatra hereditary colorectal carcinoma is one of the forms of colorectal cancer – malignant lesions of the large intestine, which is caused by hereditary.

In this disease in the intestine may develop one or more malignant tumors. Mainly affects proximal parts of the intestine – those that are more distant from the exit.

As often the symptoms of pathology are nonspecific and occur also in non-neoplastic diseases of the large intestine, very often, these patients first come to abdominal (abdominal) surgeon and the proctologist. But then it turns out that treatment must also take oncologist.

General data

Nepalipatra for hereditary colorectal carcinoma (NCRC) have from 3 to 8% of all clinical cases of colorectal cancer – malignant lesions of the colon. If the mutation of the corresponding genes – the risk of developing NCRC is about 80%.

Pathology diagnosed in patients in the age group 50 years is 10-15 years earlier than colorectal cancer is diagnosed on average at the population (group of the population in a particular region).

In patients with hereditary nepriyatnoi colorectal carcinoma revealed an increased tendency to develop other malignant tumors – most often it is:

  • ovarian cancer;
  • cancer of the endometrium (inner lining of the uterus);
  • cancerous lesion of the small intestine (itself occurs significantly less frequently than in malignant lesions of other organs and tissues – so when it is identify diagnose the presence NCRC);
  • kidney cancer;
  • cancerous lesion of the pancreas.

In General, the risk of all malignant neoplasms in these patients is over 90%.

Causes and development of disease

Unlike other malignancies, the immediate cause of development of hereditary colorectal carcinoma nepriyatnoi known is the mutation of genes responsible for DNA repair.

Reparation is the ability to “fix” chemical damage and breaks in DNA molecules, which could occur in the formation of DNA or effects on any of the factors:

  • physical;
  • chemical;
  • biological

and so on.

Special proteins remove shattered fragments of DNA and help fill “gaps” in the normal slices, the normal functioning of DNA is resumed. For the life and functioning of DNA in its structure produced a lot of incorrect fragments, but thanks to the operational work of proteins-the”rescue” all of them are quickly eliminated, so do not have time to appear on the DNA.

When mutated, the genes responsible for the formation of such “saving” of proteins, damage to DNA lead to instability of the application – DNA begins to work with numerous errors, producing part of cells, wrong from the point of view of biochemistry. These cells become unstable and as a result, prone to malignant transformation. The presence of gene mutations confirmed by genetic testing of biological material taken from patients with the described pathology.

The tumor can invade the wall of the large intestine or grow in the direction of the lumen. In both cases, with progressive growth of tumors worsen all bowel function – suction, evacuation and others.

The risk of pathology

For diagnosis NNKRC the presence of only one of the described mutations are not enough – developed clinical criteria which allow the patient to confirm the fact nepriyatnoi hereditary colorectal carcinoma. In other words, the presence of mutations in the absence of these criteria, as the presence of criteria in the absence of mutations – not a reason to put the patient the terrible diagnosis.

Among these clinical criteria are:

  • the patient has multiple (three or more) relatives diagnosed with colorectal cancer diagnosis was confirmed based on histological (tissue) studies;
  • one of these three relatives must have a first degree kinship with the other two – that is, it should be parents and children;
  • the disease is diagnosed in the two generations;
  • in addition to colorectal cancer, is considered diagnosed with cancer of the kidney, small intestine and other organs, cancerous lesion which is characteristic of NCRC;
  • at least one of the tumors was discovered in a patient 50 years of age.

In order to forecast the occurrence of the described pathology was more accurate, three groups of such patients.

The criteria for this separation – the tendency to develop hereditary nepriyatnoi colorectal carcinoma. According to them, risk groups are:

  • low;
  • medium;
  • high.

In the low-risk group will include the majority of the population.

Such people have colon cancer in family history (i.e., with relatives), but if detected something the family:

  • not the first degree;
  • first-degree relatives over the age of 45 years.

In the group of medium risk – those patients who have:

  • two relative first-degree relatives who were ill colorectal cancer at any age;
  • one relative first degree relative whose colorectal cancer is diagnosed before the age of 45 years.

At high risk of Contracting the described pathology includes the following patients:

  • they and members of their families were diagnosed with inherited nepalipatra colorectal carcinoma and different polyphonie syndromes;
  • a family history was identified three or more cases of bowel colon cancer on the maternal or paternal side (one of the parents, grandparents, aunts, uncles, sisters, brothers, nephews and nieces);
  • two or more cases of colon cancer diagnosed in at least one of the relatives of one line, which in this case was not yet 45 years old.

If the disease is confirmed by at least one parent, the risk of having a child who will be diagnosed with this pathology, is 50%.

Genetic testing such a child can spend at the stage of its prenatal development, but this method really is not meaningful from a practical point of view.

The explanation is the following: the future child it is possible to define the mutation, but it is impossible to predict its behavior during life. Such a mutation may:

  • not appear at all (appears the so-called incomplete penetrance of the gene);
  • occur at different ages and with different severity forecasts to the birth of the child in this case would be misleading, since the behavior of genes depends on environmental conditions, and they are impossible to predict and evaluate in advance.
Symptoms nepriyatnoi colorectal carcinoma

Clinical signs nepriyatnoi hereditary colorectal cancer are the same as when the disease is colorectal cancer. Their peculiarity lies in the fact that such symptoms are:

  • appear at a young age;
  • signal about the defeat in mainly upper parts of the colon.

The symptoms are the following:

  • pain in the abdomen;
  • intestinal bleeding and the associated changes in the feces;
  • violation of General condition due to intestinal bleeding;
  • violation of General condition due to the presence of the tumor;
  • phenomena of intestinal obstruction.

Characteristics of pain:

  • localization in the tumor location;
  • dissemination during the early stages of the disease the pain may radiate to the neighboring areas of the abdomen, the progression can spread throughout the abdomen;
  • by nature nouse-pressing, often on the level of marked discomfort in the abdomen;
  • intensity – medium intensity at first, with the progression of the disease increasing;
  • at the emergence – at the beginning of the disease is periodic, then increasing, in advanced disease, the constant does not disappear even at night.

Bleeding develops as a result of corrosion by the tumor of the blood vessel wall. If the tumor is high, then blood mixed with the feces and undergoes physical and chemical changes, therefore, in coming out of Calais is not visually defined. If the bleeding has regular and/or significant expression, there is a dark chair.

Repeated bleeding will lead to the development of anemia (anemia), which manifestoes such features as:

  • pale skin and mucous membranes;
  • dry mouth;
  • increasing weakness first occurs after the work done under continuous bleeding may occur without any preconditions, becomes constant;
  • dizziness;
  • the deterioration in performance up to a considerable problem when performing a normal workload;
  • flashing “flies” before eyes;
  • intermittent tinnitus

and others.

Violation of the General condition develops in the later stages of tumor development and is associated with cancer intoxication – enters the blood of metabolic products of tumors, and products of decay of its tissues.

This raises the following symptoms:

  • increasing weakness;
  • lethargy;
  • dinamicnog the patient;
  • General fatigue – when running nepriyatnoi forms of hereditary colorectal carcinoma patients with difficulty doing basic work, not costly resources of the body;
  • permanent hyperthermia (increased body temperature observed continuously). If you do not develop complications of septic character, the body temperature rises classically not above the level of 37.3-37.5 degrees Celsius;
  • poor appetite until its complete disappearance – these patients eat through force, forcing myself, then you can opt out of the meal;
  • weight loss – poor appetite, but also because of cancer intoxication. Weight loss can develop up to the development of cachexia is pronounced exhaustion, ill look at it in the literal sense, as “skin and bones”.

Phenomena of intestinal obstruction developing in the described disease in the case that narrows the lumen of the intestine.

This can occur if the tumor grows significantly the intestinal wall and like pulling it, or the growth toward the lumen of the intestine there is a significant increase of the tumor, which is able to close the gap.

Signs of intestinal obstruction in this case is the following:

  • sharp cramping pains in the abdomen, which may be repeated every 10-15 minutes;
  • diarrhoeal disorders – increasing flatulence (flatus complication until the full delays, bloating), constipation, vomiting.
Diagnosis

Clinical symptoms described disease is not specific and can occur with other diseases of the large intestine (particularly, cancer). Therefore, diagnosis based only the patients ‘ complaints is not possible. The patient nepriyatnoi hereditary colorectal cancer can be suspected based on family history. The final diagnosis is put after the results of the study of physical, instrumental, laboratory.

Data of physical examination are as follows:

  • during the examination – with the progression of diseases of the skin and visible mucous membranes are pale, the moisture of the tongue is reduced, it is constantly coated with white bloom. If the tumor has grown large, it rendered the enlargement of the abdomen. In the terminal stages there is a significant weight loss and serious deterioration of the General condition of the patients;
  • palpation (feeling) of the abdomen – in the area of location of the tumor noted a solid tumor, which may have different sizes and different mobility of the stomach in this place is painful. Intestinal obstruction above the tumor is palpated filled with feces intestine;
  • auscultation of the abdomen (listening with a stethoscope) – in progressive tumor growth, intestinal noises can be amplified (the intestine tries to push the contents through its narrowed part). With the development of bowel obstruction, peristaltic noises weakened until the lack.

Instrumental methods of examination used in diagnostics of hereditary colorectal carcinoma nepriyatnoi the following:

  • colonoscopy – endoscopic examination of the colonoscope, which can be used to explore the internal surface of the large intestine almost in its entirety and to identify the tumor and assess its size, surface and other characteristics;
  • barium enema and –graphy – the colon is injected, a contrast agent, is then carried out fluoroscopy and x-ray images, which detect the tumor;
  • biopsy during endoscopy are sampling the suspicious tissue is then examined under a microscope.

With the progression of pathology and symptoms of metastasis, which is manifested by worsening of other organs and tissues, require complex instrumental examination of the patient with the involvement of all possible instrumental methods of diagnosis.

In the first place is:

  • gastroscopy – endoscopic examination of the stomach;
  • ultrasound examination of abdominal cavity organs, retroperitoneal space and pelvis (ultrasound);
  • cytological examination of aspirate endometrial aspirated the contents of the uterus, and then examine it for the presence of atypical cells;
  • fluoroscopy and -graphy of the chest;
  • x-rays of bone structures;
  • skeletal scintigraphy and intravenous introducing pharmaceuticals with radionuclides, which are distributed in the bone tissue. This was followed by imaging – isotopes create a color image, by which to judge the presence of lesions of skeletal structures.

Laboratory methods used in the diagnosis of the described diseases, the following:

  • the General analysis of a blood in dynamics – the progression of this cancer, an increase in erythrocyte sedimentation rate, a decrease in the number of erythrocytes and hemoglobin;
  • biochemical analysis of blood – determined by changes in the ratio of trace elements, also revealed a decrease in the total protein count and the change of the ratio of protein fractions;
  • coprogram – Calais reveal mucus and blood;
  • fecal occult blood test is performed to detect blood in the stool when it is a small amount;
  • direct microscopic examination of feces – practice in the event of the accession of pathogenic infection. Under the microscope in the stool to identify pathogen;
  • bacteriological examination of feces – do stool cultures on nutrient media, the grown colonies analyzed, it identificeret of the pathogen;
  • histological examination of biopsy material – study of tissue structure of the material taken during biopsy of the intestine;
  • cytological examination of biopsy material – it is studied for the presence of atypical cells;
  • research on mikrosatellitnoi variability – study shifts from the DNA.
Differential diagnosis of

Differential diagnosis of hereditary nepriyatnoi colorectal carcinoma carried out with such pathologies as:

  • polyps – growths that appeared on the inner surface of the intestinal wall;
  • pseudopolyps – formation of outgrowths of the colonic mucosa similar to polyps, but aren’t;
  • adenoma – a benign tumor formed from glandular tissues.
  • leiomyoma is a malignant tumor that develops from smooth muscle cells, which are part of the muscular layer of the colonic wall;
  • Crohn’s disease – the formation of multiple tubercles of granulomas throughout the intestine;
  • tuberculosis of the colon.
Complications

Complications that can occur in hereditary nepriyatnoi colorectales carcinoma, pleased typical for malignant tumors. This:

  • metastasis – the migration of tumor cells through the blood to other organs and tissues where they form secondary malignant lesions;
  • cancer intoxication – poisoning of the organism by waste products and disintegration of the cancerous tissue;
  • cancer cachexia – marked emaciation of the patient, which is observed at the terminal (final) stages of the disease;
  • perforation of the intestine – the formation of pathological hole in the wall as a result of necrosis, which is formed by the decay of the tumor tissues. Accompanied by the release of intestinal contents into the pelvic area and the abdominal cavity;
  • pelvioperitonit – inflammation of the peritoneum lining the walls of the pelvis and covering its organs. Develops after the contact with intestinal contents due to perforation of the colonic wall;
  • peritonitis – inflammation for the same reasons, the sheets of peritoneum, which lines the abdominal wall from the inside and covers its organs.
Treatment nepriyatnoi colorectal carcinoma

The basis of treatment of hereditary nepriyatnoi colorectal carcinoma is surgery. During the surgery is performed to remove most of the colon. If lymph nodes are also removed.

Also, the treatment will involve conservative methods of treatment, which in this case are symptomatic (i.e., does not eliminate the disease, and its manifestations):

  • painkillers – when expressed pain syndrome;
  • infusion therapy – for the purpose of detoxification and correction of blood volume after hemorrhage. Administered glucose, protein and salt solutions, electrolytes, blood components (erythrocyte mass, fresh-frozen plasma);
  • vitamin therapy – parenteral (bypassing the digestive tract) administered pharmacy vitaminangels.

A major role in this disease is diet. A patient is recommended the intake of easily digestible food, rich in proteins, fats, carbohydrates, minerals, vitamins.

Prevention

Since the presence of the mutated gene does not mean the development NCRC, the formation of tumors in close relatives of patients who have already been identified describe the disease can be prevented through regular surveys, namely:

  • it is necessary to undergo a colonoscopy: after 20 years – every two years, after 40 years – once a year;
  • should undergo regular inspection of bodies where this disease can also develop tumors are the kidneys, ureters, stomach, and so on;
  • women should undergo an annual examination by a gynecologist to exclude cancer of the ovary and endometrium;
  • distant relatives of patients are recommended to undergo genetic testing.
Nepriyatnoi the prognosis of colorectal carcinoma, survival

The prognosis of this disease complex, but more favorable compared to non-hereditary varieties of colorectal cancer.

With early diagnosis and removal of the tumor, the duration of life of patients can continue, but suffers quality of life due to the shutdown of the large intestine from the digestive system.

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