RESUMEN
BACKGROUND: Benign metastasizing leiomyoma (BML) is a rare condition described as multiple well-differentiated leiomyomas at sites distant from the uterus. Apart from lungs it has also been reported in lymph nodes, heart, brain, bone, skin, eye and spinal cord. We present a case of pulmonary benign metastasizing leiomyoma in a female patient admitted to our hospital with suspicion of left adnexal tumor. CASE REPORT: A 45-year-old woman was referred to our hospital with suspicion of left adnexal tumor. The control transvaginal ultrasound examination performed at admission to the Gynecological Department excluded adnexal neoplasm. However, a large amount of fluid within the Douglas pouch raised the oncological concern. The patient underwent myomectomy in 2005. In the same year she was diagnosed with multiple lung nodules and underwent pulmonary wedge resection with the diagnosis of pulmonary benign metastasizing leiomyoma being stated. The decision of reevaluation of the specimen, control CT and puncture of the Douglas pouch fluid was made. Computed tomography performed at the Department of Diagnostic Imaging and Interventional Radiology of the Pomeranian Medical University Hospital revealed multiple, bilateral nodules. The microscopic examination of the samples confirmed the initial diagnosis of benign metastasizing leiomyoma with no evidence of neoplastic cells within the fluid. CONCLUSIONS: Pulmonary benign metastasizing leiomyoma is a rare entity. However, it should be always taken into consideration in women with a previous or coincident history of uterine leiomyoma, especially when no evidence of other malignancy is present.
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The cystic mature teratomas, including dermoid cysts, are one of the most frequently occurring benign ovarian tumors diagnosed in female patients. The process of neoplastic transformation in mature dermoid cysts is applicable only to 1-2% of cases. In our article, we present a rare case of thyroid carcinoma development in adult teratoma in 21-year-old patient. The young age, certain pathomorphological features and clinical data (small size of neoplastic lesion, correct values of tumour markers, unilateral character, regular levels of thyreoglobulin and absence of any significant deviations in imaging examinations), were the basis for attempting to apply the conservative treatment both in the scope of gynecological surgery and in the supplemental endocrinological therapy. In the patient, the one-sided adnexectomy was performed, considering pathological lesions on the adnexa, as well as the other ovary dermoid cyst was enucleated, without the hysteroctomy procedure. Considering the lack of any morphological lesions and functional changes relating to thyroid gland, the treatment was not radicalised in this scope, either. At present, one year after the primary operation treatment, the patient does not manifest any disease symptoms, whereas the other ovary, in the follow-up ultrasound examinations, shows normal size and echostructure. The thyroid-stimulating hormone (TSH) suppression keeps being applied.
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Carcinoma Papilar/tratamiento farmacológico , Neoplasias Primarias Múltiples , Neoplasias Ováricas/cirugía , Teratoma/cirugía , Neoplasias de la Tiroides/tratamiento farmacológico , Adulto , Femenino , Preservación de la Fertilidad , Terapia de Reemplazo de Hormonas , Humanos , Neoplasias Primarias Múltiples/tratamiento farmacológico , Neoplasias Primarias Múltiples/cirugía , Tiroxina/uso terapéutico , Resultado del Tratamiento , Adulto JovenRESUMEN
PURPOSE: To present clinical manifestation, diagnosis and treatment of a patient with the primary intraocular lymphoma at 2.5 year follow-up. PATIENT AND METHODS: Phaco-PPV with silicone oil tamponade was performed in a 62 year old man with a diagnosis of recurrent bilateral uveitis of unknown etiology complicated by cataract. The creamy-yellow infiltrates were identified and aspirates were collected for immunocytochemical evaluation during the surgery--B-cell lymphoma was diagnosed. The results of additional tests--hematologic workup, head and orbit neuro-imaging--were within normal limits. The patient has been treated with regular intraocular injections of Methotrexate at a dose of 400 microg/0.1 ml to both eyes for 2.5 years. Regular routine ophtalmic examinations were performed during the said follow-up period. RESULTS: The lymphocyte infiltrations in both eyes regressed during therapy. The best corrected distance VA remained stable and was 0.2 in RE and 0.3 in LE (Snellen). The intraocular pressures and anterior segments in both eyes were normal. The new small lymphocyte infiltrates were observed in the fundi and were successfully treated with additional Methotrexate injections. Methotrexate treatment was augmented with a single laser endophotocoagulation in the LE and 2, 3-time argon laser photocagulation in both eyes. To date, there no systemic symptoms of the disease have been observed. CONCLUSIONS: Local chemotherapy with Methotrexate may be an effective and safe treatment of primary intraocular lymphoma. However, due to high potential for systemic and local spread, patients should be monitored on a regular basis by ophthalmologists and oncologists.
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Linfoma Intraocular/diagnóstico , Linfoma Intraocular/tratamiento farmacológico , Metotrexato/administración & dosificación , Estudios de Seguimiento , Humanos , Inyecciones Intraoculares , Fotocoagulación , Masculino , Persona de Mediana Edad , Resultado del TratamientoRESUMEN
Oestrogen receptor α (ERα) is responsible for activation of gene transcription, while oestrogen receptor ß (ERß) serves as a negative regulator of ERα function. Since ER status is a prognostic and predictive factor in some cancers, we analysed the immunohistochemical expression of ERα and ERß in Reed-Sternberg (RS) cells in paraffin-embedded lymph node specimens from 27 children with classical Hodgkin lymphoma (HL) in relation to histological type, clinical stage, age, and gender. Percentage of RS cells with positive nuclear reaction for the presence of ERα and/or ERß was assessed. ERα positive RS cells were present in 11% (3/27) of lymph nodes (range 1-8%, mean 0.4%) whereas ERß positive RS cells were detected in 96% (26/27) of lymph nodes (range 1-97.5%, mean 61.8%). The highest percentage of ERß positive RS cells was observed in patients with the most advanced (IVB) disease as compared to patients with lower stages (90.3% vs. 56.9% respectively, p = 0.004). To the best of our knowledge this is the first report on the expression of ERß in RS cells in children. We conclude that RS cells in classical HL in children seem to be mainly ERß positive and ERα negative.
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Receptor alfa de Estrógeno/biosíntesis , Receptor beta de Estrógeno/biosíntesis , Enfermedad de Hodgkin/metabolismo , Células de Reed-Sternberg/metabolismo , Adolescente , Niño , Preescolar , Femenino , Humanos , Inmunohistoquímica , MasculinoAsunto(s)
Neurilemoma/diagnóstico , Neurilemoma/patología , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/patología , Dolor Abdominal/etiología , Anciano , Endoscopía , Femenino , Gastrectomía , Humanos , Hallazgos Incidentales , Neurilemoma/cirugía , Neoplasias Gástricas/cirugía , Resultado del TratamientoRESUMEN
Rhinoscleroma is a chronic inflammatory disease in which granulation tissue with a typical cell content is found. The paper presents the case of a 77-year-old woman with clinically diagnosed nodule in the nasal cavity. The histopathological examination revealed granulation tissue with plasma cells and Mikulicz's cells. The clinical and morphological picture of the case in question is a rare opportunity to bring to mind a disease that used to be common in Poland and which clinically can imitate malignant tumour.
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Cavidad Nasal/patología , Rinoscleroma/patología , Anciano , Antígenos CD/metabolismo , Antígenos de Diferenciación Mielomonocítica/metabolismo , Biomarcadores/metabolismo , Femenino , Tejido de Granulación/metabolismo , Tejido de Granulación/microbiología , Tejido de Granulación/patología , Humanos , Klebsiella pneumoniae/aislamiento & purificación , Cavidad Nasal/metabolismo , Cavidad Nasal/microbiología , Células Plasmáticas/metabolismo , Células Plasmáticas/patología , Rinoscleroma/metabolismo , Rinoscleroma/microbiología , Sindecano-1/metabolismoRESUMEN
AIM: The aim of study was test efficacy of accelerated postoperative radiotherapy--concomitant boost in patients with advanced larynx cancer. METHODS AND MATERIALS: The prospective study included 112 patients with advanced larynx cancer after radical surgical treatment. Patients had postoperative radiation therapy, conventional (C) or accelerated (CB). RESULTS: The 3-year overall survival in CB was 59%, in C--58% (p = 0.2), 3-year locoregional control in CB--83%, in C--75% (p = 0.01), the 3-year disease free survival was in CB--72%, C--66% (p = 0.1). CONCLUSION: Concomitant boost postoperative radiation therapy did not improve overall survival, loco-regional control, disease free survival. Patients with close surgical margins, longer interval between surgery and radiation, high level of hemoglobin, T4 had benefit from accelerated radiotherapy.
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Carcinoma de Células Escamosas/diagnóstico por imagen , Carcinoma de Células Escamosas/patología , Neoplasias Laríngeas/patología , Neoplasias Laríngeas/radioterapia , Cuidados Posoperatorios/métodos , Antineoplásicos/uso terapéutico , Carcinoma de Células Escamosas/tratamiento farmacológico , Carcinoma de Células Escamosas/cirugía , Terapia Combinada , Supervivencia sin Enfermedad , Relación Dosis-Respuesta en la Radiación , Femenino , Estudios de Seguimiento , Humanos , Neoplasias Laríngeas/tratamiento farmacológico , Neoplasias Laríngeas/cirugía , Masculino , Estadificación de Neoplasias , Polonia , Radiografía , Dosificación Radioterapéutica , Radioterapia Adyuvante/estadística & datos numéricos , Medición de Riesgo , Análisis de SupervivenciaRESUMEN
INTRODUCTION: Radioiodine treatment (RT) of benign thyroid diseases is a well-known, safe, and effective treatment. In a group of patients after RT, who remained in long-term follow-up, sporadic cases of malignant thyroid lesions occurred. The aim of the study was to estimate how often it happened despite the exclusion of malignancy before RT. MATERIAL AND METHOD: A group of 4314 patients (7438 person-years) underwent RT and subsequently were followed-up for 1-8 years (mean 20.69 months). Apart from thyroid function estimation, if needed, fine needle aspiration biopsy (FNAB) of the thyroid or neck focal lesions was performed based on ultrasonographic or clinical examination. Patients with pathological FNAB were analyzed and histopathologically verified. RESULTS: In 12 out of 4314 cases (0.27%) suspicious FNAB results were found. Suspicious thyroid lesion results were found in 9 patients (8 F, 1 M), aged 46-73 (average 56 years) followed up for 3-57 months after RT: papillary cancer in two patients, Hürthle cell tumour in one patient, and suspicious cells in two patients (with benign lesions on postoperative histopathology). Two patients refused surgery (a suspicion of papillary cancer in one case and suspicious cells in FNAB in the second case). A follicular tumour in FNAB was suspected in two cases (no data about the first, and the second with lung cancer was not operable). In the remaining 3 cases FNAB revealed lymph node metastases due to other cancers. CONCLUSIONS: Malignant thyroid lesions in patients after RT due to benign thyroid diseases are seldom detected. However, periodical clinical and ultrasonographic evaluation is recommended.
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Radioisótopos de Yodo/efectos adversos , Enfermedades de la Tiroides/epidemiología , Enfermedades de la Tiroides/radioterapia , Neoplasias de la Tiroides/epidemiología , Adenocarcinoma Folicular/diagnóstico por imagen , Adenocarcinoma Folicular/epidemiología , Adenocarcinoma Folicular/etiología , Adenocarcinoma Folicular/patología , Adenoma Oxifílico , Anciano , Biopsia con Aguja Fina , Carcinoma , Carcinoma Papilar , Causalidad , Femenino , Estudios de Seguimiento , Humanos , Incidencia , Radioisótopos de Yodo/uso terapéutico , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/epidemiología , Metástasis Linfática/diagnóstico , Masculino , Persona de Mediana Edad , Cáncer Papilar Tiroideo , Neoplasias de la Tiroides/diagnóstico por imagen , Neoplasias de la Tiroides/etiología , Neoplasias de la Tiroides/patología , UltrasonografíaRESUMEN
BACKGROUND: Dual phase 99mTc-sestamibi SPECT/CT preoperative parathyroid scintigraphy (PPS) is seldom discussed in terms of the transport kinetics of the tracer. OBJECTIVES: To assess the relationship between the characteristic type of tracer transport in particular PPS and histopathological findings in patients with secondary hyperparathyroidism (sHPT). MATERIAL AND METHODS: The study comprised 27 patients (13 females and 14 males) with sHPT. Based on tracer accumulation in early phase (EP) and delayed phase (DP), the following types of accumulation for PPS(+) lesions were identified: EP(-)/ DP(+) (type I), EP(+)/DP(+) (type II), EP(+)/DP(-) (type III). EP(-)/DP(-) (type IV) lesions constituted PPS(-) group invisible in SPECT/CT. Overall, 69 lesions 59 PPS(+) and 10 PPS(-) were evaluated histopathologically. RESULTS: Among SPECT/CT PPS(+), types I, II and III occurred in 9 (15%), 49 (83%), and 1 (2%) lesions, respectively. The frequency of histopathological diagnosis of normal and abnormal (APG - adenoma or hyperplasia) parathyroid gland, as well as non-parathyroid (thyroid, lymph nodes, or fat) lesions differed significantly between type I, II, and III lesions (p = 0.036). APG histopathological diagnosis was significantly more frequent in lesions with type II uptake than in lesions with type I uptake (76% vs. 33%, p = 0.0197). Type II lesions had significantly higher odds for histopathological diagnosis of APG or NPG than type IV, PPS(-) lesions [odds ratio = 13.1 (95% CI: 2.75 to 63.27)]. CONCLUSIONS: For SHP patients evaluated with SPECT/CT PPS accumulation type I is a weak premise for surgeon to find parathyroid pathology. Only persistent 99mTc-sestamibi accumulation in both phases - equivocal with accumulation type II - effectively differentiates parathyroid and non-parathyroid lesions as well as indicates with high probability the presence of adenoma or hyperplasia. Type III consistent with washout pattern is rare in sHPT.
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Hiperparatiroidismo Secundario/diagnóstico por imagen , Hiperparatiroidismo Secundario/patología , Tomografía Computarizada por Tomografía Computarizada de Emisión de Fotón Único , Tecnecio Tc 99m Sestamibi , Adulto , Anciano , Anciano de 80 o más Años , Transporte Biológico , Femenino , Humanos , Hiperparatiroidismo Secundario/metabolismo , Procesamiento de Imagen Asistido por Computador , Cinética , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
The aim of the study is to verify the hypothesis that genetic polymorphisms are associated with the predisposition to all malignancies. Using as a model breast cancers from the homogenous Polish population (West Pomeranian region) after stratification of 977 patients by age at diagnosis (under 51 years and above 50 years) and by tumour pathology (ductal cancers--low and high grade, lobular cancers, ER-positive/negative) we tested this hypothesis. Altogether 20 different groups of breast cancer cases have been analyzed. The results were compared to a group of unaffected controls that were matched by age, sex, ethnicity and geographical location and originated from families without cancers of any site among relatives. Molecular alterations selected for analyses included those which have been previously recognized as being associated with breast cancer predisposition. Statistically significant differences between the breast cancer cases and controls were observed in 19 of the 20 analyzed groups. Genetic changes were present in more than 90% of the breast cancer patients in 18 of 20 groups. The highest proportion of cases with constitutional changes-99.3% (139/140) was observed for lobular cancers. The number and type of genetic marker and/or the level of their association with the specific cancer predisposition was different between groups. Markers associated with majority of groups included: BRCA1, CHEK2, p53, TNRnTT, FGFRnAA, XPD CC/AA and XPD GG. Some markers appeared to be group specific and included polymorphisms in CDKN2A, CYP1B1, M3K nAA, and RS67.
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Neoplasias de la Mama/genética , Neoplasias de la Mama/patología , Factores de Edad , Biomarcadores de Tumor/análisis , Femenino , Marcadores Genéticos , Predisposición Genética a la Enfermedad , Humanos , Persona de Mediana Edad , Modelos Biológicos , Polonia , Polimorfismo GenéticoRESUMEN
BBACKGROUND: The aim of this paper was to analyse our own semi-quantitative method of assessing focal lesions localised in pre-operative diagnostic scintigraphy of primary hyperparathyroidism (PHPT) using 99mTc-MIBI with washout and comparing these data with the result of the histopathological examination (HP). MATERIAL AND METHODS: A total of 40 (37 female, 3 male, average age 58.7 years) patients with a suspicion of PHPT were enrolled for prospective analysis. Dual phase planar and SPECT/CT examination with 99mTc-MIBI were performed. The tumour to background ratios in the 10th and 120th minute were calculated (TBR10 and TBR120) on the basis of the planar acquisition. PTH, ionised calcium and phosphate levels were measured. Parathyroid surgery alone or combined with subtotal/total thyreoidectomy was conducted in 23 (57.5%) and 17 (42.5%) patients, respectively. A HP was performed in all patients. RESULTS: Average concentration of PTH in the whole group was 243.95 pg/ml. There was a statistically significant correlation between medians of PTH concentration and parathyroid histopathological results (p = 0.01). A total of 45 lesions of increased uptake were found in 32 (80.0%) and 34 (85%) patients in the early phase and the delayed phase, respectively. The post-operative material contained 20 (44.5%) parathyroid adenomas, 11 (24.5%) cases of hyperplasia, 2 (4.4%) cancers, 4 (8.9%) cases of normal parathyroid tissue, 2 (4.4%) lymph nodes and 6 (13.3%) cases of thyroid gland tissue. The medians of TBR10 and TBR120 for lesions examined in the HP were respectively: 3.64 and 2.59 for adenoma; 3.08 and 2.18 for hyperplasia; 7.7 and 5.5 for parathyroid cancer, 4.89 and 3.16 for normal tissue and 5.26 and 2.95 for lymph nodes or thyroid gland tissue. A high correlation coefficient of TBR10 to TBR120 in the parathyroid adenoma and parathyroid hyperplasia groups was observed with r = 0.867 and r = 0.964, respectively. The ρr correlation coefficient of TBR10 to TBR120 for normal parathyroid was 0.4. There was a statistically significant association between the HP and TBR10 medians (p = 0.047), but not between histopathology and TBR120 medians (p = 0.840). CONCLUSIONS: The washout technique in pre-operative 99mTc-MIBI scintigraphy is effective in detecting lesions of the parathyroid (cancer, adenoma, hyperplasia, normal tissue of the parathyroid). Parathyroid cancers in semi-quantitative analysis were characterised by a slightly higher TBR. However, it is impossible to differentiate lesions based on this data. Histopathology results are significantly associated with TBR and PTH.
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Hiperparatiroidismo/diagnóstico por imagen , Hiperparatiroidismo/patología , Interpretación de Imagen Asistida por Computador/métodos , Neoplasias de las Paratiroides/diagnóstico por imagen , Neoplasias de las Paratiroides/patología , Tomografía Computarizada por Tomografía Computarizada de Emisión de Fotón Único/métodos , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Hiperparatiroidismo/etiología , Aumento de la Imagen/métodos , Masculino , Persona de Mediana Edad , Neoplasias de las Paratiroides/complicaciones , Reconocimiento de Normas Patrones Automatizadas/métodos , Estudios Prospectivos , Radiofármacos , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Estadística como Asunto , Tecnecio Tc 99m SestamibiRESUMEN
The report presents 200 cases of gastrointestinal stromal tumors (GIST). The material originated from six diagnostic centers in Poland and was reclassified according to the current criteria. Among lesions other than GISTs, 14 were identified as smooth muscle tumors and seven as neural tumors. GISTs were located in the stomach (51-63.3% of the investigated series), small intestine (27.4-33.8%), colon (approximately 4.5%), abdominal cavity, i.e. in the peritoneum and omentum (6%), and in the retroperitoneal space (2.5%). A slight predominance of women was noted (53-56%). The age of the patients ranged between 14 and 93 years of life, with the mean age of 62.4 years. Individuals younger than 45 years of age accounted for 10% of the group. In ten patients (five of them less than 45 years of life), multiple tumors were detected, their number ranging from two to less than 20; these individuals constituted 5% of the entire series. Moderately and highly aggressive tumors predominated. In the series, when multiple tumors were excluded, a total of 24 epithelioid GISTs (12%) were observed; of this number, 13 were situated in the stomach, six--in the small intestine, two--in the abdominal cavity and another two in the retroperitoneal space. Synchronic tumors observed in patients with GISTs were seen in seven patients, including an adenocarcinoma of the colon, two adenocarcinomas of the stomach, a carcinoid tumor of the small intestine, a pheochromocytoma of the retroperitoneal space, an anaplastic lymphoma and a disseminated squamous cell carcinoma. In immunohistochemical reactions (CD117, CD34, SMA, S-100, DES), attention was focused on the immunoreactivity of small GISTs, below 2 cm in size, and of multiple tumors. Immunohistochemical reactions were equally differentiated as to their presence and intensity in small tumors and in highly aggressive lesions above 5-10 cm in size. In multiple GISTs, immunohistochemical tests strongly indicated the heterogeneity of neoplastic cells, which, nevertheless, showed no consistent association with the location of the tumor, its aggressiveness, cellular structure or a tendency to form multiple foci.
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Tumores del Estroma Gastrointestinal/patología , Neoplasias Primarias Múltiples/patología , Adolescente , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Femenino , Tumores del Estroma Gastrointestinal/metabolismo , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana Edad , Neoplasias Primarias Múltiples/metabolismo , Proteínas Proto-Oncogénicas c-kit/metabolismo , Factores SexualesRESUMEN
Despite the fact that fine needle aspiration biopsy (FNAB) is a commonly employed method in modern oncological diagnostic management, it has found no extensive use to diagnose lymphoproliferative lesions of the orbit and eye adnexa. Benign and malignant lymphoproliferative lesions and pseudotumor have a very similar clinical course. Microscopicaly, the lesions are also similar and hence even on histology it is difficult to differentiate between these conditions based on the morphology. We believed, that routine cytology and flow cytometry and/or PCR method in materials obtained in the course of FNAB are fast and sensitive methods and in many cases allow to avoid a surgical biopsy.
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Trastornos Linfoproliferativos/diagnóstico , Órbita/patología , Biopsia con Aguja Fina/métodos , Citometría de Flujo/métodos , HumanosRESUMEN
In this study the proportion of sporadic and familial malignant melanoma (MM) cases harbouring 1100delC in CHK2 was determined to assess whether this mutation is associated with the occurrence of MM. Three groups of patients were studied: (i) 101 patients with histologically confirmed sporadic MM of the skin diagnosed in the city of Szczecin, Poland; (ii) 16 MM patients with a family history of MM in their first-degree relatives; and (iii) 1024 individuals selected at random by family doctors from the city of Szczecin. Molecular examination included an allele-specific oligonucleotide polymerase chain reaction assay for the CHK2 founder mutation (1100delC), genomic sequencing, loss of heterozygosity analysis using CA-repeat microsatellite markers, and haplotype analysis. The CHK2 founder mutation was detected in one out of 101 (1%) of the sporadic MM cases, in none of the 16 familial MMs, and in two of the 1024 individuals (0.2%) from the general population. The differences between the groups of patients were not statistically significant. The MM patient with a CHK2 founder mutation was a 56-year-old female with a history of brain tumours at age 33 and 40 years, sarcoma at 41 years and finally MM at 55 years. Examination of tumorous DNA isolated from the MM and the sarcoma from this patient revealed no loss of heterozygosity in either tumour. It seems that examination of sporadic or familial MM cases for the 1100delC germline mutation in CHK2 is not justified. To evaluate whether this CHK2 founder mutation is associated with MM in patients with LFS syndrome, more MM cases from LFS families should be examined.
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Mutación de Línea Germinal/genética , Melanoma/genética , Proteínas Serina-Treonina Quinasas/genética , Neoplasias Cutáneas/genética , Adulto , Quinasa de Punto de Control 2 , Análisis Mutacional de ADN , Femenino , Efecto Fundador , Frecuencia de los Genes , Humanos , Pérdida de Heterocigocidad/genética , Persona de Mediana EdadRESUMEN
In this study we determined in what proportion of consecutive malignant melanoma (MM) cases the 657del5 mutation of exon 6 of the NBS1 gene can be detected and whether it is associated with the occurrence of MM. Two groups of patients were studied: a series of 80 consecutive patients with histologically confirmed MM of the skin diagnosed in the city of Szczecin, Poland, and a series of 530 consecutive individuals selected at random by family doctors from the city of Szczecin. Molecular examination included an allele-specific polymerase chain reaction assay for the NBS1 founder mutation (657del5), genomic sequencing, loss of heterozygosity analysis using CA-repeat microsatellite markers, and haplotype analysis. The NBS1 founder mutation was detected in two of the 80 (2.5%) MM cases and in three of the 530 individuals (0.6%) from the general population. The difference was not statistically significant. However, examination of tumorous DNA from the patients with MM and NBS1 mutation revealed loss of heterozygosity in both cases. Haplotype analysis revealed that allellic loss affects wild-type alleles. Breast cancer was found in second-degree relatives of both MM probands with NBS1 mutations. One of these probands was simultaneously affected with breast cancer. It seems that the 657del5 mutation of exon 6 of NBS1 gene may be responsible for the occurrence of a small proportion of MM patients, characterized by the occurrence of breast cancer among their relatives.
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Proteínas de Ciclo Celular/genética , ADN de Neoplasias/análisis , ADN de Neoplasias/genética , Mutación de Línea Germinal/genética , Melanoma/genética , Proteínas Nucleares/genética , Neoplasias Cutáneas/genética , Adolescente , Adulto , Anciano , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/genética , Estudios de Casos y Controles , Comorbilidad , Femenino , Efecto Fundador , Genética de Población , Haplotipos/genética , Humanos , Pérdida de Heterocigocidad/genética , Masculino , Melanoma/epidemiología , Repeticiones de Microsatélite , Persona de Mediana Edad , Linaje , Polonia/epidemiología , Prevalencia , Distribución Aleatoria , Análisis de Secuencia de ADN , Neoplasias Cutáneas/epidemiologíaRESUMEN
The study aimed to determine whether hereditary ovarian cancers that are not caused by BRCA1/BRCA2 constitutional mutations are associated with a predisposition to cystadenoma. The study consisted of two parts. Part one concerned the incidence of ovarian cystadenoma in females from families with hereditary ovarian cancer unassociated with BRCA1 mutations. The study group included 62 female patients from 29 families, without any previously diagnosed malignancy, with no proven constitutional mutation of the BRCA1 gene. The first control group was composed of 62 female patients from 53 families, without any previously diagnosed malignancy, with an identified constitutional mutation of the BRCA1 gene. The second control group comprised 124 female patients for whom the only reason for the examination was a prophylactic check-up. All studied women were subjected to intravaginal ultra- sonographic investigations. In 8 patients with benign and/or borderline ovarian cystadenoma, a complete sequencing of coding fragments of the BRCA2 gene from the peripheral blood DNA was performed. Part two of this study concerned the incidence and pattern of malignant tumors in the families of female patients with ovarian cystadenoma. The final study group included 117 patients who had 726 I0 relatives (359 females and 367 males). We concluded that cystadenoma is likely to be a characteristic feature of the subgroup of families with hereditary ovarian cancers unassociated with BRCA1/BRCA2 constitutional mutations.
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Cistoadenoma/genética , Predisposición Genética a la Enfermedad , Neoplasias Ováricas/genética , Adulto , Estudios de Casos y Controles , Análisis Mutacional de ADN , Femenino , Genes BRCA1 , Genes BRCA2 , Humanos , LinajeRESUMEN
BACKGROUND/AIMS: We aimed to study the relationship between HBcAg in liver tissue, histological and biochemical activity and serum HBV-DNA levels among HBeAg-negative patients. METHODOLOGY: 49 biopsy specimens taken from 16 females and 29 males were studied. Immunostaining for HBcAg was performed with commercially available kits (Dako). Serum HBV-DNA was detected by the hybridization method, in case of negative hybridization, repeated by PCR. RESULTS: HBcAg was found in 16 biopsy specimens (32.6%) (group I)--in 10 cases in hepatocytes nuclei and cytoplasm, in 5 in the nuclei and in one case in cytoplasm only. 15 out of 16 patients were serum HBV-DNA positive. Seven patients showed chronic liver disease of moderate or severe activity with HBcAg expression both in the nuclei and cytoplasm. Group II consisted of 33 patients who were HBcAg-negative. In 7 patients HBV-DNA was not found by hybridization or by PCR. In eleven patients ALT and AST activity exceeded 1.5x the ULN. ALT and AST differed significantly between group II and I. CONCLUSIONS: In our opinion immunohistochemical examination is an essential part of classification to antiviral treatment. HBcAg immunostaining should be performed in every HBeAg-negative patient to exclude reasons for aminotransferase elevation other than HBV infection.
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Antígenos del Núcleo de la Hepatitis B/análisis , Antígenos de Superficie de la Hepatitis B/sangre , Hígado/química , Adolescente , Adulto , Anciano , ADN Viral/sangre , Femenino , Antígenos e de la Hepatitis B , Virus de la Hepatitis B/genética , Humanos , Hígado/patología , Masculino , Persona de Mediana EdadRESUMEN
Nephrogenic adenoma is a rare benign lesion of the urinary tract involving mainly the urinary bladder. The clinical manifestations, endoscopic signs and histopathological pattern of NA should be differentiated from a cancer, which may be a source of misinterpretation. Here we report a case of a 70-year-old man previously treated for papillary urothelial carcinoma. Six months later he developed a tumour, giving rise to a suspicion of recurrence. Histopathologically the tumour was diagnosed as nephrogenic adenoma. It is the first case of nephrogenic adenoma in Polish literature.
Asunto(s)
Adenoma/patología , Neoplasias Primarias Secundarias/patología , Neoplasias de la Vejiga Urinaria/patología , Adenoma/química , Adenoma/cirugía , Anciano , Antígenos Nucleares , Biomarcadores de Tumor/análisis , Humanos , Inmunohistoquímica , Queratinas/análisis , Masculino , Neoplasias Primarias Secundarias/química , Neoplasias Primarias Secundarias/cirugía , Proteínas Nucleares/análisis , Resultado del Tratamiento , Neoplasias de la Vejiga Urinaria/química , Neoplasias de la Vejiga Urinaria/cirugía , Vimentina/análisisRESUMEN
Here we report a case of a 48-year-old woman with ectopic thyroid tissue in the right ventricle. The tumour involved 1/3 of the ventricle and adhered to the myocardium. The lesion was removed completely and a bioprosthesis was placed due to tricuspid insufficiency, and then a pacemaker was implanted. The diagnosis was made upon examination of the postoperative tissue. The paper discusses embryological implications of the development of thyroid tissue in the heart. This case is first in the Polish literature.