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1.
Cancers (Basel) ; 14(19)2022 Oct 03.
Artigo em Inglês | MEDLINE | ID: mdl-36230757

RESUMO

Colorectal cancer is a major cause of cancer-related death worldwide and is correlated with genetic and epigenetic alterations in the colonic epithelium. Genetic changes play a major role in the pathophysiology of colorectal cancer through the development of gene mutations, but recent research has shown an important role for epigenetic alterations. In this review, we try to describe the current knowledge about epigenetic alterations, including DNA methylation and histone modifications, as well as the role of non-coding RNAs as epigenetic regulators and the prognostic and predictive biomarkers in metastatic colorectal disease that can allow increases in the effectiveness of treatments. Additionally, the intestinal microbiota's composition can be an important biomarker for the response to strategies based on the immunotherapy of CRC. The identification of biomarkers in mCRC can be enhanced by developing artificial intelligence programs. We present the actual models that implement AI technology as a bridge connecting ncRNAs with tumors and conducted some experiments to improve the quality of the model used as well as the speed of the model that provides answers to users. In order to carry out this task, we implemented six algorithms: the naive Bayes classifier, the random forest classifier, the decision tree classifier, gradient boosted trees, logistic regression and SVM.

2.
Arch Clin Cases ; 8(1): 7-13, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34754933

RESUMO

Primary thyroid angiosarcoma is a very rare and extremely aggressive mesenchymal malignant neoplasm showing morphological and immunophenotypic evidence of endothelial cell differentiation. Early diagnosis of this tumor along with radical thyroidectomy followed by postoperative radiotherapy and chemotherapy are essential for adequate management of the patient. Currently available data on diagnosis and treatment options of this neoplasm are limited because it is a rare disease in endocrine organs. Raising awareness regarding its diagnosis can help to optimize the treatment and to improve the survival of the patient. We present the case of a 72-year-old female patient with multiple comorbidities who addressed to the hospital with obstructive respiratory symptoms: dyspnea, wheezing and hoarseness. The investigations, both clinical and paraclinical, identified a local invasive cervical mass located mainly in the left thyroid lobe, whose immunohistochemical examination confirmed primary thyroid angiosarcoma. Although this type of neoplasm is described mainly in the Alpine regions, it can appear in lower altitude regions and this tumor needs to be differentiated from a high-grade neoplasm (anaplastic thyroid carcinoma).

3.
Arch Clin Cases ; 8(4): 97-105, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34984233

RESUMO

Primary solitary fibrous tumor (SFT) of the thyroid gland is a rare mesenchymal tumor with fibroblastic differentiation, ramified, thin-walled, enlarged (staghorn) vessels and specific NAB2-STAT6 gene fusion, which is more commonly found in pleura and peritoneum. This neoplasm can be located in a variety of anatomical sites outside pleura and peritoneum including bone, visceral organs and soft tissues, head and neck examples representing only 10-15% of the extra-pleural and extra-peritoneal tumors. Diagnosing this entity can be difficult, especially in thyroid gland, mainly because of the rarity of this neoplasm, but presence of characteristic microscopic features together with positivity for STAT6 and CD34 can confirm the diagnosis and exclude other differential diagnosis. Information about the diagnosis and treatment options of thyroid SFTs is limited but almost all primary thyroid SFTs have a good prognosis and indolent clinical course. Clinical surveillance is still necessary because some SFTs can be aggressive. Raising awareness regarding extra-pleural and extra-peritoneal location of this tumor in endocrine organs can help to better manage these patients. We report the case of a 34-year-old female with primary SFT of the thyroid gland. Additionally, we review the literature for the main clinical, paraclinical and pathological features of this neoplasm.

4.
Arch Clin Cases ; 6(1): 6-21, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-34754903

RESUMO

Undifferentiated carcinoma with osteoclast-like giant cell (UCOGC) is a ductal carcinoma variant with a recently reported more protracted survival and pathognomonic histology comprising two cell populations: the mononuclear tumoral cells and nontumoral multinucleated giant cells. It usually presents as a large heterogenic tumor with mixed solid-cystic components. The tumor develops from the ductal epithelium but the sequence of epithelial changes is often not identified due to the rapid tumoral growth and associated necrotic changes. We report a case of a 76-year-old patient diagnosed with cephalic UCOGC originating in the epithelium of the main pancreatic duct with endoluminal growth and foci of other ductal neoplasms (high-grade pancreatic intraepithelial neoplasia (PanIN) and conventional ductal carcinoma). The particularity of our case consists in the identification of the columnar epithelium conversion, through high-grade PanIN, into UCOGC specific malignant features, in a large size tumor - aspect usually reported in small tumors. Alongside our case we also present a brief literature review of cephalic UCOGC case reports and case series.

5.
Arch Clin Cases ; 6(3): 76-80, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-34754912

RESUMO

Uterine torsion is a rare surgical emergency that can evolve with ischemic lesions of the genital organs. We present a case of a 59 year-old woman who was hospitalized with important abdominal pain and modified general status. On clinical examination, a giant abdominal mass was found, and bimanual genital palpation could not find the cervix but revealed tension in the vaginal walls. CT examination described the palpable tumor mass as a giant uterine leiomyoma, with no information regarding the adnexes. As her general status become critical within 24 hours, the surgical intervention was performed, although the patient refused it. The abdominal exploration discovered a giant engorged uterus with 720-degree dextro-isthmic rotation around its axis; both fallopian tubes, broad ligaments, round ligaments and ovaries were also rotated and ischemic. She underwent subtotal hysterectomy with favorable postoperative outcome. The pathological report showed that the uterus and the annexes had ischemic to necrotic lesions. This case shows that the diagnosis of uterine torsion can be a pitfall due to its rarity. The disease has fatal evolution if the correct treatment is not applied on time.

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