RESUMEN
Tuberous sclerosis complex (tsc), a phacomatosis, is a rare genetic disease (autosomal dominant; incidence: 1 in 6,800-17,300) associated with mutations in the TSC1 and TSC2 genes, 70% of which are sporadic. The disease causes benign tumours in the brain, kidneys, heart, lungs, skin, and eyes; thyroid lesions are extremely rare. A 13-year-old euthyroid boy with a hereditary form of tsc (del 4730G in TSC2, also seen in 2 sisters and the father) was admitted to hospital with a thyroid nodule. Physical examination revealed a nodular left lobe with increased consistency. Thyroid ultrasonography revealed a heterogeneous left lobe, predominantly hypoechoic with multiple microcalcifications and the presence of suspicious cervical lymph nodes on the left side. A macrocalcification was observed on the right lobe. Fine-needle biopsy results showed a few groups of cells with discrete atypical characteristics, including abundant cytoplasm, nuclei with conspicuous nucleoli, intra-nuclear inclusions, and nuclear grooves. The patient underwent total thyroidectomy with lymphadenectomy. Histopathology examination confirmed papillary thyroid carcinoma. The coincidence of endocrine neoplasia including thyroid cancer and tsc is rare, and tsc with papillary thyroid carcinoma has never been described in a child. Studies of mutations in the tumour suppressor genes TSC1, TSC2, and STK11, activating the mtor (mammalian target of rapamycin) pathway, might support their role in the pathogenesis of thyroid cancer.
RESUMEN
BACKGROUND: Majority of gastrointestinal stromal tumours (GISTs) are characterised by KIT-immunopositivity and the presence of KIT/platelet-derived growth factor receptor alpha (PDGFRA) activating mutations. PATIENTS AND METHODS: Spectrum and frequency of KIT and PDGFRA mutations were investigated in 427 GISTs. Univariate and multivariate analysis of relapse-free survival (RFS) was conducted in relation to tumours' clinicopathologic features and genotype. RESULTS: Mutations were found in 351 (82.2%) cases, including 296 (69.3%) KIT and 55 (12.9%) PDGFRA isoforms. Univariate analysis revealed higher 5-year RFS rate in women (37.9%; P = 0.028) and in patients with gastric tumours (46.3%; P < 0.001). In addition a better 5-year RFS correlated with smaller tumour size ≤ 5 cm (62.7%; P < 0.001), tumours with mitotic index ≤ 5/50 high-power fields (60%; P < 0.001), and characterised by (very) low/moderate risk (70.2%; P = 0.006). Patients with GISTs bearing deletions encompassing KIT codons 557/558 had worse 5-year RFS rate (23.8%) than those with any other KIT exon 11 mutations (41.8%; P < 0.001) or deletions not involving codons 557/558 (33.3%; P = 0.007). Better 5-year RFS characterised patients with KIT exon 11 point mutations (50.7%) or duplications (40%). By multivariate analysis, tumours with PDGFRA mutations and KIT exon 11 point mutations/other than 557/558 deletions had lower risk of progression than with KIT exon 11 557/558 deletions (both Ps = 0.001). CONCLUSIONS: KIT/PDGFRA mutational status has prognostic significance for patients' outcome and may help in management of patients with GISTs.
Asunto(s)
Tumores del Estroma Gastrointestinal/genética , Proteínas Proto-Oncogénicas c-kit/genética , Receptor alfa de Factor de Crecimiento Derivado de Plaquetas/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mutación , Pronóstico , Adulto JovenRESUMEN
S-100 protein expression is present in various malignant tissues, yet its prognostic relevance is debatable. The aim was to assess in non-small cell lung cancer (NSCLC) patients' prognostic value of S-100 protein considered alone or in relation with other variables. Tumour samples taken from 86 NSCLC patients during resection were assayed for S-100 protein expression with the use of polyclonal DAKO ZO311 antibody. S-100 expression was found in 32 cases (37%). Positive staining was not correlated with clinical characteristics including age, sex, pathology type of tumour, stage and cigarette smoking. There was a tendency for simultaneous expression of S-100 and P53 protein (p=0.06). A median survival rate for the entire group was 2.3 years (95% CI, 0.9-3.6 years). The median and 5-year survival of patients with positive staining for S-100 protein was 1.5 years and 25%, respectively, compared with 3.0 years and 35%, respectively, in the S-100 negative group (p=0.17). In the final model of a multivariate analysis, S-100 protein expression in tumour cells was associated with significantly decreased survival (p=0.005). S-100 protein expression in tumour cells seems to be an independent predictor of poor prognosis in NSCLC patients.
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Carcinoma de Pulmón de Células no Pequeñas/mortalidad , Carcinoma de Pulmón de Células no Pequeñas/patología , Proteínas S100/análisis , Adulto , Anciano , Femenino , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana Edad , Pronóstico , Tasa de Supervivencia , Proteína p53 Supresora de Tumor/análisisRESUMEN
We identified 4316 unselected incident cases of early-onset breast cancers (<51 ears of age at diagnosis) in 18 Polish hospitals between 1996 and 2003. We were able to obtain a blood sample for DNA analysis from 3472 of these (80.4%). All cases were tested for the presence of three founder mutations in BRCA1. The proportion of cases with a BRCA1 mutation was 5.7%. The hereditary proportions were higher than this for women with breast cancer diagnosed before age 40 (9%), for women with cancer of medullary or atypical medullary histology (28%), for those with bilateral cancer (29%) or with a family history of breast or ovarian cancer (13%). It is reasonable to offer genetic testing to women with early-onset breast cancer in Poland.
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Proteína BRCA1/biosíntesis , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/genética , Regulación Neoplásica de la Expresión Génica , Genes BRCA1 , Predisposición Genética a la Enfermedad , Mutación , Adulto , Neoplasias de la Mama/metabolismo , Análisis Mutacional de ADN , Femenino , Humanos , Persona de Mediana Edad , Modelos Estadísticos , Polonia , Estudios ProspectivosRESUMEN
UNLABELLED: Thyroid cancer treatment includes: surgery, radioiodine therapy, thyroxine therapy and radiotherapy. Selection of treatment's strategy depends on histopathological evaluation, age of patient and iodine uptake. The aim of the analysis was to verify how the medical documentation of patients treated by surgical treatment was prepared. All patients were directed to the Department of Endocrinology, Holycross Cancer Center in Kielce. Analysis encompassed 33 patients classified to 131I therapy for the first time. In each case patient's medical documentation and histopathological diagnosis made in Department of Tumor Pathology, Holycross Cancer Center, were compared. RESULTS: A conformity with primary cancer diagnosis was obtained in all but one patient in whom pathological consultation did not confirm oxyphilic carcinoma. In four cases the type of cancer was changed as a result of repeated consultation. pTMN classification was stated in 23 primary pathologic examination cases. After consultation of slides and inspection of surgery protocol, total or partial pTNM stage was obtained in other 9 patients. CONCLUSIONS: Establishment of diagnostic and therapeutic algorithm, accepted on Conference in Szczyrk, 1995 is inadequately executed in small centers. Routine consultation of histopathological slides creates a possibility to make a proper choice of treatment's strategy.
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Radioisótopos de Yodo/uso terapéutico , Neoplasias de la Tiroides/patología , Neoplasias de la Tiroides/terapia , Humanos , Periodo Posoperatorio , Radioterapia Adyuvante , Tiroxina/uso terapéuticoRESUMEN
Histopathological diagnosis of thyroid cancer is difficult and requires much experience. Pathologists have to know many histopathological variants and be aware of the current diagnostic criteria. The aim of the study was to unify criteria applied all over the country and compare whether the accuracy of diagnosis has changed in the course of the last fifteen years. In a multicenter trial, 36 pathologists from 25 centers reevaluated 232 thyroid tumors operated between 1985-1998. The reference diagnosis was given on the basis of evaluation made by four experienced pathologists. The two-step analysis was performed. At first, the accuracy of the diagnosis of malignant neoplasm was evaluated. Then, the accuracy of the diagnosis of the cancer histotype was analyzed, with estimation of kappa coefficients and their asymptomatic standard error. Comparison of primary and reference diagnoses revealed statistically significant differences--in 17% of cases the primary diagnosis of cancer was not confirmed by experienced pathologists. Kappa coefficient for the diagnosis of cancer histotype was 0.53 + 0.06. On the contrary, the diagnoses made by the participants of the trial did not differ significantly from the reference ones. Kappa coefficient for the diagnosis of cancer histotype was significantly higher than for primary diagnoses with 0.63 +/- 0.10 (p < 0.001). The first results of the multicenter trial indicated that the most frequent diagnostic error made at primary diagnosis was the overdiagnosis of follicular thyroid carcinoma. Thus, a summary of strict criteria for papillary and follicular thyroid carcinoma is also given.
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Adenocarcinoma Folicular/patología , Carcinoma Papilar/patología , Neoplasias de la Tiroides/patología , Diagnóstico Diferencial , Femenino , Humanos , MasculinoRESUMEN
A quick test of accuracy of histopathological diagnosis of thyroid carcinoma was performed in May 2000 during the meeting of Polish thyroid cancer group (Committee for Epidemiology, Diagnosis and Treatment of Thyroid Carcinoma). 29 pathologists participated in the test and evaluated 8 cases of thyroid carcinoma and 14 benign thyroid lesions. All cases were chosen from the current material sent for pathologic evaluation to the Institute of Oncology in Gliwice due to diagnostic difficulties. In total, 591 diagnoses were made and were the subject of the presented analysis. They were compared with reference diagnosis in two aspects. First, the accuracy of the distinction between malignant and benign lesions was evaluated. 72.5% of diagnoses were concordant with the reference. The false diagnosis of cancer in a benign lesion was observed 133 times (22.5% of all diagnoses). A reverse error--a false exclusion of cancer--was seen in 29 diagnoses (4.9%). Chi 2 test revealed a statistically significant difference between the participants' diagnoses and reference ones (p < 0.0001). Overdiagnosis of cancer was the most frequent at the diagnosis of follicular or oxyphilic cancer. With reference to the diagnosis of cancer histotype, concordant diagnoses were seen in 40-47% of cases with the lowest accuracy of the diagnosis of oxyphilic (40% of correct diagnoses) and follicular (50%) cancer. The causes of false diagnoses may be divided in two groups: sample-related causes (sampling of surgical specimens, lack of standard description, insufficient number of samples, poor quality of staining) and diagnostic errors: non-compliance with diagnostic criteria and inappropriate setting of diagnoses, which require immunohistochemical confirmation.
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Adenoma/patología , Carcinoma Medular/patología , Carcinoma Papilar/patología , Carcinoma/patología , Neoplasias de la Tiroides/patología , Carcinoma/clasificación , Diagnóstico Diferencial , Técnicas Histológicas/métodos , Técnicas Histológicas/normas , Humanos , PoloniaRESUMEN
The aim of the study was showed the case of patient aged 41 years, treated in the Otolaryngology Department of Military Medical Academy because of giant pleomorphic adenoma of the parotid gland with the malignancy features. After performed of the BAC of tumour, the CT of neck and the scintigraphy of salivary glands the patient qualified for operation. The tumour resected with capsule and the superficial lobe of the left parotid gland, conservating of function of the facial nerve. The histopathologic examination proved the mucoepidermoid carcinoma in the pleomorphic adenoma didn't infiltrate of capsule. After oncologic consultation the patient had not of complementary radiotherapy, because the operation was radical and the carcinoma had a low radiosensitivity. The above mentioned case confirms of the reports, that the pleomorphic adenoma can undergo of malignancy changes, however the gigantic tumour doesn't write off possibility of operating success.
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Adenoma Pleomórfico/diagnóstico por imagen , Adenoma Pleomórfico/cirugía , Neoplasias de la Parótida/diagnóstico por imagen , Neoplasias de la Parótida/cirugía , Adulto , Femenino , Humanos , Tomografía Computarizada por Rayos XRESUMEN
The diagnostic value of fine needle aspiration biopsy was estimated in the study. Cytological features, which allow us to diagnose and distinguish fibroadenoma from other breast benign lesions, were also examined. The diagnostic effectiveness was estimated depending on the observance of the described criteria (features) characteristic for the breast fibroadenoma by a comparative analysis of cytological findings in three diagnostic centers.
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Neoplasias de la Mama/diagnóstico , Fibroadenoma/diagnóstico , Adolescente , Adulto , Biopsia con Aguja , Enfermedades de la Mama/diagnóstico , Enfermedades de la Mama/patología , Neoplasias de la Mama/patología , Niño , Femenino , Fibroadenoma/patología , Enfermedad Fibroquística de la Mama/diagnóstico , Enfermedad Fibroquística de la Mama/patología , Humanos , Persona de Mediana Edad , Sensibilidad y EspecificidadRESUMEN
The results of transthoracic biopsy in 100 cases and of transthoracic punction in 42 cases were analysed. The material which was obtained by the two methods was on principle investigated cytologically. A comparison of the two methods is given. The rate of complications with both methods was approximately 10% pneumothorax rarely haemoptysis. The advantages and disadvantages of the methods are demonstrated.
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Biopsia con Aguja/instrumentación , Carcinoma Broncogénico/patología , Neoplasias Pulmonares/patología , Pulmón/patología , Adulto , Anciano , Carcinoma de Pulmón de Células no Pequeñas/patología , Carcinoma de Células Pequeñas/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Nódulo Pulmonar Solitario/patologíaRESUMEN
A hypothesis of the pathogenetic mechanism of the pulmonary changes after the injury is introduced. Basis are the results of the morphologic estimation of the lung traumas by blast with known energy in rabbits. The reason is the lung deformation by the sudden pressure increasing in the thoracic cavity and the volume reduction of the thorax. The deformed lungs were pressed against the thorax wall in the region of the smallest deformation.