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1.
Pril (Makedon Akad Nauk Umet Odd Med Nauki) ; 44(3): 127-132, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-38109454

RESUMO

Pseudocarcinomatous hyperplasia of the tubal mucosa is a rare, reactive response to an underlying inflammatory or neoplastic process. We present a case of pseudocarcinomatous hyperplasia in a 26-year-old woman with clinical symptomatology of pelvic inflammatory disease, and a normal serum Ca 125-level (30 U/ml). The ultrasound finding showed presence of hydrosalpinx characterized with unilateral tubal enlargement in sausage-like shape that arose from the upper lateral margin of the uterus. The young age of the patient, presence of chronic inflammation, epithelial hyperplasia with unremarkable nuclear atypia and mitosis facilitated the right diagnosis. Pseudocarcinomatous hyperplasia can mimic neoplastic processes clinically and pathologically. Differential morphological and clinical features should be considered to ensure accurate diagnosis and proper management.


Assuntos
Salpingite , Feminino , Humanos , Adulto , Salpingite/complicações , Salpingite/patologia , Hiperplasia/complicações , Hiperplasia/patologia , Mucosa/patologia , Diagnóstico Diferencial
2.
Rep Pract Oncol Radiother ; 27(2): 303-309, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36299383

RESUMO

Background: The spectrum of BRCA1 and BRCA2 mutations varies among populations; however, some mutations may be frequent in particular ethnic groups due to the "founder" effect. The c.3700_3704del mutation was previously described as a recurrent BRCA1 variant in Eastern European countries. This study aimed to investigate the frequency of c.3700_3704del BRCA1 mutation in Albanian breast and ovarian cancer patients from North Macedonia and Kosovo. Materials and methods: A total of 327 patients with invasive breast and/or ovarian cancer (111 Albanian women from North Macedonia and 216 from Kosovo) were screened for 13 recurrent BRCA1/2 mutations. Targeted NGS with a panel of 94 cancer-associated genes including BRCA1 and BRCA2 was performed in a selected group of 118 patients. Results: We have identified 21 BRCA1/2 pathogenic variants, 17 (14 BRCA1 and 3 BRCA2) in patients from Kosovo (7.9%) and 4 (1 BRCA1 and 3 BRCA2) in patients from North Macedonia (3.6%). All BRCA1/2 mutations were found in one patient each, except for c.3700_3704del BRCA1 mutation which was observed in 14 unrelated families, all except one originating from Kosovo. The c.3700_3704del mutation accounts for 93% of BRCA1 mutation positive cases and is present with a frequency of 6% among breast cancer patients from Kosovo. Conclusions: This is the first report of BRCA1/2 mutations among breast and ovarian cancer patients from Kosovo. The finding that BRCA1 c.3700_3704del represents a founder mutation in Kosovo with the highest worldwide reported frequency supports the implementation of fast and low-cost screening protocol, regardless of the family history and even a pilot population-based screening in at-risk population.

3.
Pol J Pathol ; 68(2): 138-143, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29025247

RESUMO

Molar pregnancy has the highest incidence of all gestational trophoblastic diseases. This is a heterogeneous group of diseases, composed of precancerous lesions and gestational trophoblastic tumours. The hydatidiform mole is characterised by varying degrees of proliferation of syncytiotrophoblastic and cytotrophoblastic cells and stromal oedema. Based on established morphological and cytogenetic criteria, molar pregnancy is divided into partial and complete. The risk of persistent trophoblastic disease is higher in complete moles compared with partial moles. The aim of this study was to assess the importance of additional molecular methods as a conjunction to the standard histopathological analysis to accurately determine the type and origin of triploidy and to detect partial molar pregnancy. This study examined a total of 24 cases of triploidy. Apart from the detailed histomorphological analysis, a molecular analysis of the placental tissue and maternal DNA was also performed. Digynic triploidy was found in 15 cases, whereas diandric triploidy was found in nine of the cases. The results showed that due to the histomorphological overlap between partial molar pregnancy and hydropic abortions, concomitant histopathological analysis of the placental tissue and molecular analysis of the placental and maternal DNA can lead to correct diagnosis.


Assuntos
Mola Hidatiforme/genética , Mola Hidatiforme/patologia , Neoplasias Uterinas/genética , Neoplasias Uterinas/patologia , Feminino , Humanos , Mola Hidatiforme/diagnóstico , Gravidez , Triploidia , Neoplasias Uterinas/diagnóstico
4.
Open Access Maced J Med Sci ; 5(5): 608-612, 2017 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-28932300

RESUMO

BACKGROUND: Prostatic carcinoma (PCa) derives from prostatic epithelial cells. However stromal microenvironment, associated with malignant epithelium, also plays a role in prostatic carcinogenesis. Alterations in prostatic stromal cells contribute to the loss of growth control in epithelial cells that lead to progression of PCa. AIM: To analyse the differences between Androgen Receptor (AR) expression in both epithelial and stromal cells in PCa and the surrounding benign prostatic hyperplasia (BPH) and to compare the results with tumour grade. MATERIAL AND METHODS: Samples from 70 cases of radical prostatectomy specimens were used. The expression and intensity of the signal for AR was analysed in the epithelial and stromal cells of PCa and BPH, and the data was quantified using histological score (H-score). RESULTS: AR showed significantly lower expression in both epithelial and stromal cells of PCa compared to BPH. In PCa a significant positive correlation of AR expression was found between stromal and epithelial cells of PCa. AR expression showed a correlation between the stromal cells of PCa and tumour grade. CONCLUSION: AR expression is reduced in epithelial and stromal cells of PCa. Expression of AR in stromal cells of PCa significantly correlates with tumour grade.

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