1,721,255 research outputs found
Diagnosi citologica del nodulo tiroideo: citologia agoaspirativa con ago sottile.
No full textIl capitolo illustra le metodiche di esecuzione dell'agoaspirato tiroideo e la classificazione citologica
DNA Methylation Analysis By Bisulfite Next Generation Sequencing To Early Detect Oral Squamous Cell Carcinoma From Oral Scrapings
No full textBackground:
Oral squamous cell carcinoma (OSCC) is the most frequent neoplastic
disease in head and neck region and it is commonly preceded by potentially malignant
lesions. The discovery of highly sensitive and specific biomarkers to identify those
lesions having a high risk to undergo malignant transformation is urgently required.
Aim of the present study is to evaluate the methylation status of a list of candidate
genes from oral scraping specimens to improve the current strategies for early cancer
detection with non-invasive methods.
Design:
Oral scraping from 11 OSCC, 9 High Grade Squamous intraepithelial Lesion
(HG-SIL), 9 Low Grade SIL( LG-SIL), 9 oral lichen planus (OLP) and 8 healthy
donors were included in this study. PAP smear evaluation was done to confirm the
presence of lesional cells within the brush. DNA was purified and bisulfite treated. A
set of previously described differentially methylated genes in OSCC (
GP1BB, ZAP70,
KIF1A, p16[CDKN2A], CDH1, miR137, miR375
) were investigated by bisulfite-Next
Generation Sequencing (GSJunior, Roche, Branford, CT). ReadSeqs in Fasta format
were analyzed by QuMA (http://quma.cdb.riken.jp/). The statistical significance between
lesions and normal epithelia from the same patient and from a pool of healthy donors
were evaluated with the Mann-Whitney U-test. Additionally
TP53
mutation analysis
for exon 4-9 were performed by the same NGS platform.
Results:
ZAP70
was found to be hypermethylated in 100% of OSCC and HG-SIL cases,
in 28.5% of LG-SIL and in none of OLP.
GP1BB
hypomethylation was detected in
90.9% OSCC, in 88.8% of HG-SIL, 37.5% of LG-SIL and in none of OLP.
MIR137
was
hypermethylated in 100% of OLP, while only in 44.4% of OSCC, 50% in HG-SIL, 25%
in LG-SIL. Hypermethylation in proximal promoter of
KIF1A
was detected in 54.5%
OSCC, 33.3% HG-SIL, 50% LG-SIL and 0% in OLP. No epigenetic aberrations were
detected in normal healthy donors.
p16, CDH1
and miR375 did not revealed variations
in the methylation pattern for all the classes.
Conclusions:
In our preliminary results, Bisulfite-NGS analysis of
GP1BB, ZAP70
and
miR137
promoters from oral scrapings allows to discriminate OSCC and HG-SIL from
LG-SIL, OLP and normal oral mucosa. HG-SILs share the same epigenetic modifications
of OSCC. These data confirm that CpG methylation changes may play a role in oral cancer progression and that DNA methylation analysis may have significant utility in
early detection of OSCC. Furthermore the method here proposed is non invasive and
can be applied to screen patients
Prognostic Markers of Microinvasive Breast Carcinoma: A Systematic Review and Meta-Analysis
Full text link(1) Background: The prognostic factors of microinvasive (≤1 mm) breast carcinoma are not completely clear. The aim of this study was to perform a systematic review and meta-analysis to clarify these factors. (2) Methods: The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) methodology was followed. Two databases were interrogated, PubMed and Embase, and papers in English were included to address this question. The selected studies were those that reported on female patients affected by microinvasive carcinoma, and on prognostic factors with a hazard ratio (HR) for disease-free survival (DFS) and overall survival (OS). (3) Results: In total, 618 records were identified. After removing duplicates (166), identification, and screening (336 by title and abstract alone, 116 by full text and eventual supplementary material), 5 papers were selected. Seven different meta-analyses were conducted in this study, all referring to DFS, analyzing the following prognostic factors: estrogen receptor, progesterone receptor, HER2 status, multifocality and grade of microinvasion, patient’s age, and lymph node status. Only lymph node status was associated with prognosis and DFS (total number of cases: 1528; Z = 1.94; p = 0.05). The other factors examined did not significantly affect prognosis (p > 0.05). (4) Conclusions: Positive lymph node status significantly worsens prognosis in patients with microinvasive breast carcinoma
Solid Variant of Adenoid Cystic Carcinoma of the Breast: A Case Series with Proposal of a New Grading System
No full textAdenoid cystic carcinoma (ACC) of the breast is a low-grade malignancy "triple negative" breast tumor. ACC of the breast can present a great variety of morphological features having a prognostic impact. Recently, cases of ACC having solid-basaloid features (SBACC) have been described. In the present study, 6 cases of SBACC have been reported. All the cases affected female patients aged 47 to 69 years (mean = 54 years). Two patients had metastases to the axillary lymph nodes, and 2 patients experienced local recurrences. No deaths due to the tumor were observed. A review of the literature on breast SBACC showed that local recurrences and lymph node metastases are more frequent than in the ACC conventional type; nevertheless, no deaths due to the tumor are registered at the moment. On the contrary, cases of ACC with features of malignant transformation are on record. Therefore, a new grading system on breast ACC is proposed
The impact of field cancerization on the extent of duct carcinoma in situ (DCIS) in breast tissue after conservative excision
No full textAim Aim of the present study is to evaluate the risk of residual neoplastic foci, in patients treated with breast conservative surgery, based on duct carcinoma in situ (DCIS) grading. Materials and methods The study is based on a retrospective analysis of 419 resection specimens relative to 161 patients. All these patients underwent surgical re-excision when the first specimen had shown one or more margins involved by DCIS. Margins were oriented and the side of margin involved was recorded. Clonal analysis, using the mitochondrial DNA (mtDNA) technique, was obtained in selected cases. Results Residual neoplastic foci were found in 145 out of 419 (34.6%) re-excised specimens. Specifically, residual foci of DCIS grade 2 and 3 were found more frequently in the margin facing the nipple (33.3% and 51.6%, respectively). On the contrary foci of DCIS grade 1 did not show any specific distribution. Clonal mt DNA analysis evidenced that DCIS grade 3 foci present in the re-excision specimens were genetically similar to the tumor removed in the first specimen, while DCIS grade 1 foci were not clonally related each other. Conclusions The present data further confirm that DCIS grade 3 is characterized by a circumscribed neoplastic process extending along the large ducts probably of a single mammary lobe. On the contrary DCIS grade 1 is characterized by multiple independent neoplastic foci, dispersed through several lobes indicating a field where multiple independent foci of cancer harbor
MGMT promoter methylation status in clival chordoma
No full textChordomas are rare, slow-growing neoplasms, characterized by locally aggressive growth patterns and high local recurrence rates. To the best of our knowledge, the MGMT promoter methylation status has not been studied in a population of patients with chordomas to determine if a biologic rationale exists to support the use of temozolomide. We here show for the first time that methylation of MGMT promoter is present in a significant portion or recurring clival chordomas; on the contrary in clival chordomas without recurrence MGMT promoter was always unmethylated (p = 0.0317). Although these observations need to be confirmed in a larger study population, our results (1) indicate that methylation of MGMT promoter is present in a significant portion of recurring chordomas, and (2) prompt further investigation into the potential role of temozolomide as an adjuvant treatment of these tumors. © 2014 Springer Science+Business Media New York
Liver metastasis from a non-recurrent atypical cranial meningioma: a case report
Full text linkExtracranial metastases from atypical meningioma are rare, and even more so in the liver. We report a case of a 68-years-old patient with atypical meningioma, treated with partial surgical resection in 2012, and gamma knife radiotherapy in 2014 in another hospital, exhibiting a liver metastasis 6 years after the initial surgical resection
Working formulation of neuroendocrine tumors of the skin and breast
No full textIn the skin and breast, endocrine tumors are composed of a heterogeneous mixture of endocrine and exocrine cells. The definition of "pure" endocrine carcinomas is a matter for debate, and as a consequence, there is lack of uniform diagnostic criteria. There are no significant clinical differences in either overall or disease-free survival between matched neoplasms with endocrine and without endocrine differentiation nor between the degree of endocrine differentiation and tumor size, stage, or prevalence of vascular invasion for both sites (skin and breast). Here, endocrine tumors of the skin and breast are grouped respectively into three categories that include most of the neuroendocrine tumors of the skin and breast as seen in routine practice. It was felt that the number of different types of neuroendocrine tumors is so conspicuous that it is impossible to organize them in an orderly classification. It has been proposed therefore, for practical diagnostic routine purposes, to arrange these neoplasms into a working formulation. The latter includes heterogeneous lesions respectively of the skin and breast within the same group that have clinical features in common
Co-expression of Myoepithelial and Melanocytic Features in Carcinoma Ex Pleomorphic Adenoma
Full text linkThe presence of melanin pigment and melanocytic markers expression have been rarely reported in salivary gland tumors. Herein, two cases of carcinoma arising in pleomorphic adenoma of the parotid gland and showing diffuse expression of myoepithelial and melanocytic markers are described. The clinical-pathological clues useful in the differential diagnosis with melanoma are discussed. In addition, a review of the pertinent literature is also proposed, discussing the pathologic mechanisms potentially involved in this phenomenon
- …
