[Assessment of thoracic trauma at the 1st Department of Surgery in Brno (1 January 2011 - 31 December 2015)]. / Poranení hrudníku na I. chirurgické klinice LF MU a FN USA v Brne (vyhodnocené období 1. 1. 2011 az 31. 12. 2015).

INTRODUCTION: The number of cases of thorax injury increased steadily between 2011 and 2015. This is probably related to a more active lifestyle of the younger generations and also to the increasing average age of citizens. The aim of the study was to show problems connected with thorax injury. METHOD: Our retrospective study evaluated a group of patients with thoracic injury (diagnosis codes S20-S29) in the period from 1 January 2011 to 31 December 2015 who were treated in our Department. RESULTS: We evaluated a group of 1,697 patients with thoracic injury were divided into five subgroups: 1) simple contusion of the thorax, 2) simple rib fractures, 3) contusion of the thorax with vertebral fractures, 4) serial, multiple rib fractures, 5) stab and gunshot injuries of the thorax. Each subgroup was analyzed independently and in detail. The number of thoracic injuries increased steadily, year on year. More than 40% of the patients were older than 60 years. In the group with simple rib fractures, the authors found 14 cases of pneumothorax (5.1%), which was drained in only 8 cases. The most common complications in the serial rib fractures group included pneumothorax (33 cases, 20%), hemothorax (28 cases, 16.9%) and lung contusion (15 cases, 9%). Stabilization of the thoracic wall was performed 16 times, out of the total of 26 multiple rib fracture cases (61.5%). CONCLUSIONS: Thorax injury is routinely encountered by surgeons. The authors recommend to pay particular attention not only to serious, but also to simple thorax injuries in very old patients, for instance those on anticoagulation therapy. Adequate caution also needs to be taken with serial rib fractures and flail chest and their treatment.Key words: thorax injury - rib fractures - hemothorax - pneumothorax.

[Parametric monitoring of the quality of total mesorectal excision and surgical treatment of rectal carcinoma results of a multicenter study]. / Parametrické sledování kvality totální mezorektální excize a chirurgické lécby karcinomu rekta výsledky multicentrické studie.

INTRODUCTION: Tumour size and the quality of its complete surgical removal are the main prognostic factors in rectal cancer treatment. The number of postoperative local recurrences depends on whether the mesorectum has been completely removed - total mesorectal excision (TME) - and whether tumour-free resection margins have been achieved. The surgery itself and its quality depend on the accuracy of preoperative diagnosis and detection of risk areas in the rectum and mesorectum, on the surgeons skills, and finally on pathological assessment evaluating whether complete tumour excision has been accomplished including circumferential margins of the tumour, and whether mesorectal excision is complete. The aim of our study was to implement and standardize a new method of evaluation of the quality of the surgical procedure - TME - in rectal cancer treatment using an assessment of its circumferential margins (CRO) and completeness of the excision. METHODS: The study consisted of two parts. The first, multi-centre retrospective phase with 288 patients analysed individual partial parameters of the diagnosis, operations and histological examinations of the rectal cancer. Critical points were identified and a unified follow-up protocol was prepared. In the second, prospective part of this study 600 patients were monitored parametrically focusing on the quality of the TME and its effect on the oncological treatment results. RESULTS: The proportion of patients with restaging following neoadjuvant therapy increased from 60.0% to 81.7% based on preoperative diagnosis. The number of specimens missing an assessment of the mesorectal excision quality decreased from 52.9% in the retrospective part of to the study to 22.8% in the prospective part. The proportion of actually complete TMEs rose from 22.6% to 26.0%, and that of nearly complete TMEs from 10.1% to 24.0%. CONCLUSION: The introduction of parametric monitoring into routine clinical practice improved the quality of pre-treatment and preoperative diagnosis, examination of the tissue specimen, and consequently improved quality of the surgical procedure was achieved. KEY WORDS: rectal cancer TME - parametric monitoring - quality control.

[Intraoperative sentinel lymph node detection in colon cancer resection - preliminary results]. / Peroperacní detekce sentinelové uzliny pri resekci pro karcinom kolon - predbezné výsledky.

INTRODUCTION: The aim of this paper is to evaluate the results of intraoperative sentinel node detection in colon cancer patients and to compare the number of nodes retrieved per specimen in comparison with standard resection. METHODS: Patients undergoing elective colon cancer resection were included in the study. The specimen and the sentinel lymph node were sent for histopathological examination. A group of patients from 2011 who underwent elective resection served as the study control. RESULTS: The control group comprised 56 patients. The average node count was 12.73 (4-27). The study group included 102 patients; 29 patients had to be excluded because of protocol deviation. Out of the remaining 73 (46 male and 27 female) patients, 24 were N-positive and 2 of them were pN1c. In the remaining 22 patients, the sentinel node was positive in 8 cases, corresponding to a sensitivity of 36.36%. The average lymph node count was 15.97(3-30) after patent blue dye injection. CONCLUSION: Intraoperative sentinel lymph node detection is an easy and feasible method. Despite the low sensitivity, the main positive effect of the method is the increased lymph node count per resection specimen.

[Ten years of endovenous ablation - achievements, failures and future]. / Deset let endovenózní ablace varixu, úspechy, neúspechy a budoucnost.

Endovenous ablation of varicose veins is a very frequent treatment method which has more or less replaced the classic stripping method. It has its limitations, advantages as well as disadvantages. The authors present a summarizing article and their own experience with these methods. Histology examinations performed prove differences in the reaction of the endothelium to the individual types of endovenous therapy. Causes of varicose veins treatment failures are discussed.

[Current trends in treatment and follow-up of patients with differentiated thyroid carcinoma - experience with the use of recombinant human thyrotropin]. / Soucasné trendy v lécbe a dispenzarizaci pacientu s diferencovaným karcinomem stítné zlázy - zkusenosti s vyuzitím rekombinantního humánního tyreotropinu.

Differentiated thyroid carcinoma is the most common endocrine malignancy with an excellent prognosis in the case of its early detection. Radioiodine 131I and thyroid hormones continue to be the pivotal drugs in treatment and follow-up for more than 50 years. The therapeutical and diagnostic options were recently expanded by the use of recombinant human thyrotropin (rhTSH). Our experience with the diagnostic administration of rhTSH confirms the outcomes of official trials and also indicates that the effect of rational therapy with 131I after rhTSH is similar to the outcome after standard regime using long-term thyroid hormone withdrawal.

[Lung metastases as the first manifestations of occult medullary microcarcinoma]. / Metastázy do plic jako první projevy okultního medulárního mikrokarcinomu.

The article is concerned with medullary microcarcinoma of the thyroid. Similarly to medullary macrocarcinoma, this may metastasize to distant sites. Reported is a case of a 54year- old male who had suffered from chest tightness and dry irritating cough. Chest Xray showed small nodules with poorly- defined borders of unknown etiology. Lung biopsy was performed, which detected amyloid- rich neuroendocrine carcinoma. Examination of the thyroid was recommended to confirm or rule out suspected medullary carcinoma. The biopsy examination also suggested G1 and G2 primary neuroendocrine carcinoma of the lung or diffuse idiopathic pulmonary neuroendocrine cell hyperplasia. Numerous examinations using imaging methods (CT, MRI, PET- CT) were carried out with no positive results in the thyroid. Despite that, thyroidectomy was performed. Subsequent biopsy examination revealed medullary microcarcinoma sized 0.6 cm. Apart from lung metastases, tumor lesions were found in cervical lymph nodes. This case is an example of a close cooperation between a pathologist and a clinician -  endocrinologist. Based on serum calcitonin levels, this may aid in differential diagnosis.

[Repeated resection for recurrent pulmonary metastases]. / Opakované plicní resekce v chirurgii plicních metastáz.

INTRODUCTION: Repeated pulmonary resections are predominantly used in sarcomas, colorectal cancer, Grawitz tumours, and at a young age in general. Patients with the recurrence of pulmonary metastases within a period of six months have a poor prognosis. MATERIAL AND METHODS: During the period from I/1997 to XII/2011, a total of 165 operations were performed in 149 patients. 11patients had multiple pulmonary resections. According to histological origin, sarcomas were found in 6 cases, Grawitz tumours in 2 cases, Schwannoma malignum in 1 case and laryngeal carcinoma in 1 case. There was synovialosarcoma, osteosarcoma, rhabdomyosarcoma, alveolar sarcoma and uterine sarcoma in the group of sarcomas. RESULTS: In our retrospective study, the most commonly used approach was muscle-sparing vertical thoracotomy in 14 patients, posterolateral thoracotomy in 8 patients, VATS in 3 patients and clamshell thoracotomy in 3 patients. We performed 22 extraanatomic resections - of which 3 times VATS, 6 times lobectomy (of which 1 completion pneumonectomy). We observed complications in 6 cases (small air leak in 3 patients, wound infection in 3 patients) in the postoperative period. No rethoracotomy for complications was needed, lethality was 0. The overall 5-year survival that we observed was 45.4%. CONCLUSION: Surgery is an integral part of complex oncological care. What is extremely important is strict selection of patients eligible for surgery for repeated resections and, of course, an experienced team of thoracic surgeons, but also other physicians. When performed by experienced specialists, surgical treatment of lung metastases is a safe and very useful procedure.

A rare case of urothelial carcinoma metastasizing to the gallbladder wall with manifestations as acute cholecystitis.

BACKGROUND: Metastasis to the gallbladder is very rare. This case report highlights a rare cause of acute cholecystitis, which should be considered by the surgeon and other treating physicians in the differential diagnosis of patients with urothelial carcinoma. CASE: We report the case of a 73 year-old man with follow-up oncology care. He was diagnosed with infiltrating urothelial carcinoma in 2019, received neoadjuvant chemotherapy, and subsequently underwent radical cystectomy with ureteroileostomy in April 2020. Histology confirmed complete regression of bladder cancer, the lymphonodes were also free of tumour infiltration. In July 2021, the patient was examined for intermittent abdominal pain, predominantly of the right upper quadrant. On clinical examination, the gallbladder hydrops was palpable and a positive Murphy's sign was present. Due to the signs of acute cholecystitis, the patient was indicated for acute cholecystectomy. Gallbladder histology revealed metastatic involvement of the gallbladder wall by urothelial carcinoma. CONCLUSION: If patients with bladder cancer present with intermittent right subcostal pain or signs of acute cholecystitis and diagnostic imaging shows a thickened gallbladder wall, clinicians and radiologists should consider the possibility of metastatic origin of lesion.

[Endoscopic retrograde cholangiography with a single-balloon enteroscope in patients with Roux-en-Y hepatico jejunal anastomosis]. / Endoskopická retrográdní cholangiografie pomocí jednobalónkového enteroskopu u pacientu s Roux-Y hepatikojejunoanastomózou.

AIMS OF THE STUDY: The aim of this retrospective study was to evaluate our experience with using a single-balloon enetroscope for diagnostic and therapeutic endoscopic retrograde cholangiography (ERC) in patients with Roux-en-Y hepatico jejunal anastomosis (HJA). Due to the considerably changed anatomic circumstances after the surgery, ERC is, in comparison to the standard endoscopic retrograde cholangiopancraeaticography (ERCP), significantly more difficult to perform. PATIENT SAMPLE AND METHODOLOGY: The sample was followed up from January 2009 to September 2011. The study retrospectively reviewed 14 patients with Roux-en-Y HJA with symptoms of biliary obstruction. A total of 21 ERCs were performed in these 14 Roux-en-Y HJA patients using the single-balloon videoenetroscope Olympus SIF Q 180. RESULTS: Diagnostic ERC cannulation was successful in 11 of the 14 patients (79% success rate for the diagnostic ERC). One of the 11 patients had a normal finding on the ERC. The remaining 10 patients had a pathological finding on ERC that, in one patient (cystic dilatation of bile duct), was subsequently managed surgically. Endoscopic treatment was initiated in the remaining 9 patients (HJA stenosis in 4, choledocholithiasis in 2 and concurrent HJA stenosis and choledocholithiasis in 3) immediately after the diagnostic ERC; the surgery was successful in 8 of the 9 patients (89% success rate for the therapeutic ERC). The performed endoscopic therapeutic procedures included: balloon dilatation of HJA stenosis 9 times (6 patients), choledocholithiasis extraction - 5 times (5 patients), biliary plastic stent placement - 5 times (3 patients), removal of biliary stents placed by us - 5 times (3 patients). We did not observe any complications in our sample of 14 patients. CONCLUSIONS: ERC using a single-balloon enteroscope in patients with Roux-Y HJA is significantly more difficult than the standard ERCP due to different post-surgical anatomy. In our sample of patients, we achieved 79% success rate for the diagnostic ERC and 89% success rate for the therapeutic ERC. Additional time should be allowed for the individual procedures. Furthermore, the presence of an anaesthesiologist during these operations (deep analgosedation) is essential. This is a technically very demanding technique that, however, is effective and safe and importantly extends the options available for the management of biliary pathologies in these patients.

[Anaplastic carcinoma of the thyroid gland]. / Anaplastický karcinom stítné zlázy.

INTRODUCTION: The characteristics of anaplastic carcinoma, its biological properties, incidence and possibilities of therapeutic influence are described in the article. MATERIAL AND METHODS: The authors present a cohort of patients with anaplastic carcinoma of the thyroid gland (ATC) who were operated on at the Department of Surgery during the last 5 years. RESULTS: The destiny of all the patients with histologically confirmed anaplastic carcinoma is followed, the survival period is evaluated. With regard to the small patient cohort there was no further statistical processing. CONCLUSION: The role of the surgeon in the treatment of anaplastic carcinoma as well as the necessity of the multimodal way of treatment is evaluated.

[Rare internal hernia in the falciform ligament as a rare course of abdominal emergency and infrequent cause of ileus]. / Raritní vnitrní kýla v ligmentum falciforme hepatis jako vzácná prícina náhlé príhody brisní

Intestinal obstruction caused by an internal hernia is considered to be a rare cause of ileus. The rarest of these is herniation through the falciform ligament. In our article we present the case of a 45-year old female patient operated on for small bowel herniation through a defect in the falciform ligament. The loops were laparoscopically repositioned into the free abdominal cavity and the defect was removed by electrocautery. After the operation the patient was stabilised and discharged into outpatient care. Our article also analyses relevant literature and the diagnostic methods because the abovementioned diagnosis is rare and often established as late as postoperatively. Key words: internal hernia - the falciform ligament - iatrogenous defect in the falciform ligament.

[Resection and reconstruction of the chest wall for primary or metastatic tumours]. / Resekce a rekonstrukce hrudní steny pro primární ci metastatické nádorové onemocnení.

PURPOSE OF THE STUDY: The aim of the study was to assess mortality and the complication rate after the extensive resection of chest wall tumour and subsequent soft tissue reconstruction. We wanted to evaluate the justification for major surgery in the group of patients with primary or secondary tumours, including those with an advanced stage of disease. MATERIALS AND METHODS: A total of 35 patients after major chest wall resection within an eight-year period (2000-2008) were analysed retrospectively. A major resection was defined as resection of 75 cm2 or more of full thickness of the chest wall. There were 19 cases of primary malignant tumour of the chest wall, 10 cases of secondary tumour, and 6 cases of benign or semi-malignant lesions. The chest was stabilised with the help of either polypropylene or a double layer mesh of polyester covered with polyurethane. For soft tissue reconstruction, a musculocutaneous flap was used in 18 cases. The number of resected ribs ranged from two to seven. The vertebral body was partially resected in four cases, and total sternectomy was performed in two cases. This surgery was carried out with potentially curative intent in 30 (85.7%) and with palliative intent in five patients (14.3%). RESULTS: No post-operative mortality occurred. The complication rate was 17.1 %. The one-year survival rate was 88.6 %. There were seven long-term survivors at 5 or more years after resection of the chest wall for soft tissue sarcoma. Local recurrence occurred in six patients (17.1%). Neither the type of prosthesis nor the type of surgical procedure influenced the complication rate. DISCUSSION: Chest wall resection is an established surgical procedure in the treatment of primary chest wall tumours and, occasionally, solitary metastatic disease. The groups of patients reported in the literature have been heterogeneous and usually small, and thus an estimation of the true risk of the major procedure is difficult. Three studies involving large patient groups published in the last 11 years have shown morbidity in 24.4%, 33.2% and 46.0% of patients and mortality in 7.0%, 3.8% and 4.1% of patients, respectively. The results in our group of unselected patients are comparable with these studies; however, we did not perform extensive procedures like pneumonectomy and chest wall resection, or extended fore quarter amputation. CONCLUSIONS Complete resection of the chest wall is feasible even in advanced tumours without significant peri-operative morbidity and mortality. Major chest wall resection as a palliative procedure remains selective for motivated patients in a good physical condition but with low quality of life caused by a chest wall tumour.

[Thyreopathy in primary care]. / Tyreopatie v ambulantní praxi.

Thyroid gland disorders, as the core of all endocrinopathies, affect 5-7% of the population of the Czech Republic, with women being affected 6-8 times more often than men. Clinically, thyreopathies are divided into hormonal production disorders and morphology disorders. Thyroid hormones fT3, fT4 and TSH serum levels determine the diagnosis of a thyroid gland disorder. Primary hypothyreosis is characterized by reduced fT4 and increased TSH. Low T3 syndrome is a protective reaction of the organism and is associated with conversion of T4 into hormonally inactive triiodothyronine (rT3). Primary hyperthyreosis is characterized by higher fT4 and low TSH levels. Acute thyreoiditis: Inflammatory signs and normal thyroid function, anti-TPO as well as anti-TG are not elevated. Subacute thyreoiditis is manifested as an inflammation, normal anti-TPO and anti-TG, sometimes also hyperthyreosis. Chronic thyreoiditis, Hashimoto's struma is among the most frequent causes ofhypothyreosis in the Czech Republic and it is diagnosed through high anti-TPO and anti-TG levels and higher TSH. Thyreoidal adenomas and carcinomas are clinically usually euthyroid. Determination of tumour markers - thyreoglobulines in papillary and follicular carcinomas and calcitonin in medullar carcinoma that requires genetic assessment (determination of germinal mutations, usually with PCR)--is essential.

[Is pneumonectomy justified in the management of lung metastases?]. / Je oprávnené provedení pneumonektomie v lécbe plicních metastáz?

The authors discuss about questions of possibility pneumonectomy in concept of lung metastasis therapy. They analysed in detail indications, surgery, complications, survival and factors of survival. The authors also introduce case report of one patient with pneumonectomy in your group of patients.

BRAFV600E mutation in the pathogenesis of a large series of papillary thyroid carcinoma in Czech Republic.

BACKGROUND: Activating point mutation of the BRAF gene, the most common genetic alteration reported in papillary thyroid carcinomas (PTC), has been associated with poor prognostic characteristics. AIM: Our objective was to determine the frequency of BRAFV600E mutation in PTC tumor tissues from the period 1960-2007 and to correlate it with clinicopathological parameters. SUBJECTS AND METHODS: DNAs were extracted from 242 PTCs, 23 sporadic medullary carcinomas, one anaplastic carcinoma and 6 poorly differentiated carcinomas. The presence of BRAFV600E mutation was determined using single strand conformation polymorphism method and verified by direct sequencing. RESULTS: BRAFV600E mutation was detected in 81 of 242 PTCs (33.5%), in one of 6 poorly differentiated carcinomas (16.7%) and in anaplastic carcinoma. BRAFV600E mutation was much less frequent in the follicular variant compared to classical variant and mixed follicular- classical variant of PTCs (p=0.001). BRAFV600E mutation was significantly associated with presence of nodal metastasis (p=0.029), more advanced TNM stage (p=0.014) and recurrence of disease (p=0.008). The mutation correlated with a higher age at diagnosis (p=0.049) and with a greater tumor size (p=0.041). Multivariate analysis confirmed these findings. The prevalence of BRAFV600E mutation before 1986 was significantly lower than after it (p=0.008). CONCLUSIONS: Our data suggest that BRAFV600E mutation is associated with high-risk clinicopathological characteristics of PTC and worse prognosis of patients. The frequency of the mutation significantly varied during the observed period but rather because of the different age distribution of patients in particular periods than as a consequence of Chernobyl accident.

Plasma filtration in the treatment of Graves' ophthalmopathy: A randomized study.

The aim of this study was to perform a randomized study to evaluate the role of plasma filtration in the treatment of severe thyroid-associated ophthalmopathy (TAO). 20 patients were enrolled, and all patients were treated with methylprednisolone IV pulses. 10 randomly chosen patients were also subjected to plasma filtration (twice weekly in Weeks 1, 2, 4, 7, and 10). The procedure proved to be safe. All immunoglobulin classes as well as autoantibodies directed against thyroglobulin, thyroid peroxidase, and TSH receptor exhibited statistically significantly decreases. Some markers of cell-mediated immunity such as soluble antigen CD30 and monocyte chemotactic protein 1 decreased, but serum levels of other markers such as CD40 ligand and soluble protein Fas/Apo-1 did not change significantly. The decrease of immunoglobulins was long lasting, whereas cytokine levels returned to basal values before the next apheresis. Although the clinical activity score (CAS) dropped in all patients, it occurred more rapidly in patients treated with plasma filtration. The CAS difference between the two groups was statistically significant (p = 0.027). The amplitude of visual evoked potentials improved after 3 months in the plasma filtration group. At the end of the study, there was no difference between patients treated with aphereses and the control group. Eye muscle width and proptosis measured by CT scan did not differ between the two groups. We conclude that apheresis can decrease disease activity more rapidly than standard high-dose IV glucocorticoid therapy. Whether this superior treatment effect could potentially avoid surgical procedures remains to be determined.

[Evaluation of neoadjuvant chemo-radiotherapy with locally advanced rectal cancer by comparing tumour volume before and after treatment]. / Hodnocení neoadjuvantní chemoradioterapie u lokálne pokrocilého karcinomu rekta srovnáním objemu tumoru pred lécbou a po lécbe.

BACKGROUND: Neoadjuvant chemotherapy is a standard preoperative therapeutical procedure with locally advanced rectal adenocarcinoma. The aim of the study was to compare the tumour volume reduction before and after the oncological therapy in relation to the change in the CEA value and to the outcome of the histopathological evaluation of response to the treatment. PATIENTS AND METHODS: In the years 2004-2008, 274 rectal cancer patients were evaluated, of which 64 underwent neoadjuvant CRT with subsequent surgery and had also completed other inclusion criteria. The tumour volume before and after the CRT, percentage reduction in the tumour volume and the relation to the change in the CAE value and the histopathological evaluation were evaluated. RESULTS: The distance between the anus and the tumour was from 3 to 15 centimetres, the average value being 8.1 centimetres. In 5 cases the tumour was not histologically found in the resected specimen. Average value of the CEA value before the CRT was 18.12 ng/ml, range 0.7-98.1 ng/ml, after the CRT the average value was 7.00 ng/ml, range 0.5-18.7 ng/ml. The average tumour volume before CRT was 32.48, range 10.3-88.5, after the CRT the average volume was 20.13, range 4.7-55.1. CONCLUSION: A relation between the change in the T value and the volume reduction before and after the CRT of statistical significance has been proven in this group of patients. This relation however has not been proved in the N value change. Only in one-third of the evaluated patients was there a positive change in both T and N classification. No relation between the CEA value and the tumour volume change has been proven.

[Open pleural window at treatment of the advanced thoracic empyema: 20 high-risk patients' treatment experience]. / Otevrené pleurální okénko v lécbe pokrocilého empyému hrudníku: zkusenosti s lécbou dvaceti rizikových pacientu.

UNLABELLED: The aim of the retrospective clinical study was the analysis of the 20 high-risk patients operated in our department within years 2000-2008 by the modified Eloesser procedure for the serious thoracic empyema. MATERIAL AND METHODS: We have analyzed the data of the 17 men and 3 women. The most important objectives were the cause of the disease, type of procedure, perioperative mortality, length of stay and subsequent procedures. The underlying disease was the malignant intrathoracic disease in 40%, diabetes mellitus was found in 25%. The cause of empyema was pleuropneumonia in 45%, postresectional empyema occurred in 35%. RESULTS: There were two perioperative deaths (10%), remaining patients were all dismissed in a stabilized condition the 22nd postoperative day at average. Six subsequent reconstructive procedures were performed. There was no early death for the postpneumonectomy empyema. CONCLUSION: In case of the serious pleural empyema in a high-risk patient is the modified Eloesser procedure safe and life saving surgical operation. The timing of the procedure and correct indication for surgery are essential.

Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinomas.

The frequency and prognostic relevance of RET proto-oncogene somatic mutations in sporadic medullary thyroid carcinoma (MTC) remain controversial. In order to study somatic mutations in the RET proto-oncogene in sporadic MTCs found in the Czech population and to correlate these mutations with clinical and pathological characteristics, we investigated 48 truly sporadic MTCs by sequencing classical risk exons 10, 11, 13, 14, 15 and 16. From the 48 tumors studied, 23 (48%) had somatic mutation in the RET proto-oncogene in exons 10, 11, 15 or 16. The classical somatic mutation Met918Thr in exon 16 was only found in 13 tumors (27%). In five cases, multiple somatic mutations and deletions were detected. A statistically significant correlation between the presence of somatic mutation with more advanced pathological TNM stages was observed. Other clinical and pathological characteristics did not show any statistical significant association with the presence or absence of somatic mutation.

Chromogranin A, a member of neuroendocrine secretory proteins as a selective marker for laboratory diagnosis of pheochromocytoma.

The function of chromogranin A (CGA) is reviewed, and the radioimmunometric determination of plasma CGA was evaluated as a marker of pheochromocytoma using a comparison of pheochromocytoma patients immediately before surgery (group P, n=25, 635+/-451 ng/ml) with other groups of patients, i.e. pheochromocytoma patients approximately 1 year after removal of tumor (group PP, n=13, 69+/-33 ng/ml), medullary thyroid carcinoma patients (group M, n= 22, 106+/-59 ng/ml), congenital adrenal hyperplasy patients (n=33, 65+/-40 ng/ml), and controls (n=31, 66+/-29 ng/ml). A CGA level above cut off value 130 ng/ml was found in 24 of 25 patients in group P, 1 (relapse) of 13 patients in group PP, and 4 of 22 patients in group M. In the group P we found a significant association between the size of the tumors removed and plasma CGA concentrations (p=0.0016), and also a significant (p=0.0016) relationship between plasma CGA concentrations and PASS score rating the malignity of pheochromocytoma. We can conclude that plasma CGA concentration as determined by radioimmunometric assay (which is simple without the necessity of special laboratory equipment) is an effective marker of pheochromocytoma with association to malignity and tumor mass.