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1.
Rom J Morphol Embryol ; 65(2): 185-193, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39020532

RESUMO

Various histological cell types, high histological grade, extensive myometrial invasion, and the presence of lymphovascular involvement are recognized as risk factors for disease development. Individuals carrying mutations in MutL homolog 1 (MLH1), MutS homolog 2 (MSH2), MutS homolog 6 (MSH6), or postmeiotic segregation increased 2 (PMS2) genes face an increased susceptibility to both endometrial and colorectal malignancies, with a lifetime risk ranging from 40% to 60%. This research aimed to investigate the prevalence of specific immunohistochemical (IHC) markers and microsatellite instability in endometrial carcinomas and explore potential associations with patient characteristics and clinical outcomes. Out of 58 patients with comprehensive follow-up data, a subgroup of 21 cases underwent rigorous IHC evaluation, involving estrogen receptor (ER), progesterone receptor (PR), Ki67, MLH1, MSH2, MSH6, PMS2, and p53 markers. Statistical analysis, employing the χ² (chi-squared) test, was conducted to assess the connection between individual IHC markers and clinical outcomes, with particular emphasis on the influence of radiation, chemotherapy, or brachytherapy treatment, as well as the occurrence of recurrence or mortality. Notably, significant correlations were observed in cases where MSH2 and MSH6 exhibited positive results, indicating their association with the use of chemotherapy and brachytherapy. However, the analysis pertaining to International Federation of Gynecology and Obstetrics (FIGO) stage or tumor grade did not reveal any statistically significant relationships with these parameters.


Assuntos
Neoplasias do Endométrio , Imuno-Histoquímica , Humanos , Feminino , Neoplasias do Endométrio/patologia , Neoplasias do Endométrio/metabolismo , Neoplasias do Endométrio/genética , Imuno-Histoquímica/métodos , Pessoa de Meia-Idade , Prognóstico , Idoso , Adulto
2.
Rom J Morphol Embryol ; 65(2): 195-201, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39020533

RESUMO

Breast cancer is one of the more frequently diagnosed cancers leading to death in women, and, like other tumor types, it is heterogeneous in its immunophenotype. It harbors mutations that modify tumor aggressiveness, therapy responses, residual disease, drug resistance, and relapse rates in advanced stages. This study aims to assess the mutational status of G2 and G3 tumors using next-generation sequencing (NGS) on initial tissue biopsies, liquid biopsies, and mastectomy specimens. The histopathological (HP) diagnosis for the 32 selected cases was established via Hematoxylin-Eosin (HE) staining by two observers. For the immunohistochemical (IHC) testing of estrogen receptor (ER), progesterone receptor (PGR) and human epidermal growth factor receptor 2 (HER2), we used the Ventana BenchMark Ultra. Ki67 testing was conducted using Bond-III from Leica. For cases with a score of 2+, gene amplification was assessed by silver-enhanced in situ hybridization (ISH) (SISH; Inform HER2 Dual ISH) on Ventana BenchMark Ultra. NGS analysis was initially performed on biopsies and plasma, and later on mastectomy specimens. After automated deoxyribonucleic acid (DNA) and ribonucleic acid (RNA) extraction, concentrations were measured using the Invitrogen Qubit system. Libraries were created using Oncomine systems, and sequencing and analysis were done with the Ion Torrent system. Most tumors were graded as G3 (19 cases), with Luminal A being the predominant molecular subtype, and a significant number displayed HER2∕HER2-low characteristics (24 out of 32 cases). The NGS assessment showed that phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha (PIK3CA) mutations were the most frequent across all sample types. A significant limitation was the high number of invalid plasma tests due to pre-analytical handling errors or transport issues. Nonetheless, plasma testing (liquid biopsy) proved useful for monitoring tumor evolution and assessing residual disease.


Assuntos
Neoplasias da Mama , Sequenciamento de Nucleotídeos em Larga Escala , Mastectomia , Mutação , Humanos , Feminino , Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/cirurgia , Biópsia Líquida/métodos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Pessoa de Meia-Idade , Adulto , Idoso
3.
Life (Basel) ; 14(1)2023 Dec 21.
Artigo em Inglês | MEDLINE | ID: mdl-38276264

RESUMO

Connections between vitamin D and psoriasis have been a matter of interest for the past decades, with its active metabolite, 1,25(OH)2 vitamin D, being valued for antiproliferative and immunomodulatory effects. However, none of vitamin D's actions could be possible without the CYP27B1 enzyme that bio-activates this metabolite of interest. In order to see if there is any link between the enzyme expression and the disease's particularities, we conducted a preliminary study that involved 11 skin biopsies of patients with mild (n = 4) or moderate to severe psoriasis (n = 7). The cell proliferation antigen Ki67 and the CD45RO+ marker were also assessed. Compared with healthy skin, in psoriasis, it is reported that the enzyme's expression seems to be more ubiquitous, but a clear correlation between the disease's severity and the CYP27B1 expression was, to our knowledge, lacking. We found that, in patients with very mild psoriasis, the enzyme expression was observed in the epidermal stratum basale in a similar manner as in healthy skin specimens. Contrary, for higher severity scores, a divergent result was observed, with the enzyme being either variably spread in the epidermal stratum spinosum or completely absent. Unlike malignant diseases, a significant connection between CYP27B1 and Ki67 (p = 0.313) or CYP27B1 and CD45RO+ (p = 0.657) does not seem to be relevant in psoriasis.

4.
Rom J Morphol Embryol ; 63(2): 323-334, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36374138

RESUMO

Endometrial polyps (EPs) are a frequent gynecological condition. EPs often arise in the common womanly patients and are appraised to be about 25%. Advancing age, hyperestrogenism, hypertension, and Tamoxifen use are acknowledged as ordinary risk elements for the development of EP. The etiopathogenesis of EP is not accurately elucidated, but certain considerations such as diabetes mellitus, hormonal factors or arterial hypertension are considered to perform a significant contribution. The diagnosis of EPs is essentially by imaging. Transvaginal ultrasound is the primary investigation in EPs. Hysteroscopic resection is now the "gold standard" to treat to treat this disease. Hysterectomy is the definitive treatment for EPs, but it requires a judicious indication and an adequate counseling of the patient. Currently, a certain histological pattern is found in different sequences in EPs. Even if the vast majority EPs are benign, they may reach hyperplastic, with malignant alteration. The purpose of this pictorial review is the integrated approach to this type of abnormal endometrial proliferation from the perspective of natural history, diagnosis, management, morphological aspects, risk of malignancy, recurrence and last but not least, clinical outcome.


Assuntos
Neoplasias do Endométrio , Hipertensão , Pólipos , Neoplasias Uterinas , Humanos , Gravidez , Feminino , Histeroscopia/métodos , Pólipos/patologia , Neoplasias Uterinas/patologia , Histerectomia , Hipertensão/patologia , Neoplasias do Endométrio/patologia , Endométrio/patologia
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