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1.
Pathologica ; 116(3): 153-157, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38979588

ABSTRACT

Secondary neoplastic lesions in lymph nodes are predominantly metastases from solid tumors, whereas primary lymph node hemangiomas are exceptionally uncommon, with only 24 well-documented cases in the literature. Histologically, they are characterized by endothelial cells that may appear flattened or enlarged, with variable vascular density, and the presence of stromal elements. Notably, the concurrent presence of a primary hemangioma and a metastasis from breast cancer - the latter being the most prevalent secondary lesion in axillary lymph nodes - represents an unprecedented observation. The unique case presented herein underscores the exceptional rarity of primary lymph node hemangiomas and demonstrates for the first time their possible coexistence with breast cancer metastasis within the same axillary lymph node. In sharing and discussing this case study, we pay homage to Professor Juan Rosai, whose work in redefining rare and complex diagnoses continues to enlighten our understanding of lymph node vascular lesions.


Subject(s)
Breast Neoplasms , Hemangioma , Lymph Nodes , Lymphatic Metastasis , Humans , Female , Breast Neoplasms/pathology , Hemangioma/pathology , Lymph Nodes/pathology , Middle Aged
2.
Int J Mol Sci ; 24(22)2023 Nov 14.
Article in English | MEDLINE | ID: mdl-38003483

ABSTRACT

Cyclin-dependent kinase (CDK) 4/6 inhibitors have significantly improved progression-free survival in hormone-receptor-positive (HR+), human-epidermal-growth-factor-receptor-type-2-negative (HER2-) metastatic luminal breast cancer (mLBC). Several studies have shown that in patients with endocrine-sensitive or endocrine-resistant LBC, the addition of CDK4/6 inhibitors to endocrine therapy significantly prolongs progression-free survival. However, the percentage of patients who are unresponsive or refractory to these therapies is as high as 40%, and no reliable and reproducible biomarkers have been validated to select a priori responders or refractory patients. The selection of mutant clones in the target oncoprotein is the main cause of resistance. Other mechanisms such as oncogene amplification/overexpression or mutations in other pathways have been described in several models. In this study, we focused on palbociclib, a selective CDK4/6 inhibitor. We generated a human MCF-7 luminal breast cancer cell line that was able to survive and proliferate at different concentrations of palbociclib and also showed cross-resistance to abemaciclib. The resistant cell line was characterized via RNA sequencing and was found to strongly activate the epithelial-to-mesenchymal transition. Among the top deregulated genes, we found a dramatic downregulation of the CDK4 inhibitor CDKN2B and an upregulation of the TWIST1 transcription factor. TWIST1 was further validated as a target for the reversal of palbociclib resistance. This study provides new relevant information about the mechanisms of resistance to CDK4/6 inhibitors and suggests potential new markers for patients' follow-up care during treatment.


Subject(s)
Breast Neoplasms , Humans , Female , Breast Neoplasms/drug therapy , Breast Neoplasms/genetics , Breast Neoplasms/metabolism , Up-Regulation , Cyclin-Dependent Kinase 4 , Protein Kinase Inhibitors/pharmacology , Protein Kinase Inhibitors/therapeutic use , Progression-Free Survival , Cyclin-Dependent Kinase 6 , Antineoplastic Combined Chemotherapy Protocols/pharmacology , Nuclear Proteins/genetics , Nuclear Proteins/metabolism , Twist-Related Protein 1/genetics , Twist-Related Protein 1/metabolism
3.
Clin Gastroenterol Hepatol ; 18(10): 2375-2377, 2020 09.
Article in English | MEDLINE | ID: mdl-32480008

ABSTRACT

Coronavirus disease 2019 (COVID-19) is a major worldwide threat caused by a novel coronavirus, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), rapidly spreading to a global pandemic. As of May 11, 2020, 4,176,346 cases have been reported worldwide, 219,814 in Italy, and of them, 81,871 occurred in the Lombardy region.1 Although the respiratory manifestations of COVID-19 have been widely described, the impact on the gastrointestinal (GI) system remains less clear. The reported prevalence of digestive symptoms ranges from 3% to 79%, depending on the setting,2-5 but data on GI endoscopic and histologic findings in COVID-19 patients are lacking. Therefore, the aim of this study is to describe the GI endoscopic and histologic findings in COVID-19 patients.


Subject(s)
Betacoronavirus , Coronavirus Infections/diagnosis , Digestive System Diseases/diagnosis , Endoscopy, Gastrointestinal/methods , Pneumonia, Viral/diagnosis , Aged , COVID-19 , Coronavirus Infections/complications , Coronavirus Infections/epidemiology , Digestive System Diseases/etiology , Female , Humans , Italy/epidemiology , Male , Pandemics , Pneumonia, Viral/complications , Pneumonia, Viral/epidemiology , Retrospective Studies , SARS-CoV-2
4.
Scand J Gastroenterol ; 52(6-7): 674-677, 2017.
Article in English | MEDLINE | ID: mdl-28276835

ABSTRACT

BACKGROUND: Autoimmune gastritis (AIG) is a gastric pathologic condition affecting the mucosa of the fundus and the body and eventually leading to hypo-achlorhydria. AIMS: We report our clinical and pathological experience with AIG. METHODS: Data from patients with a diagnosis of AIG seen in the period January 2002-December 2012 were retrieved. Only patients with complete sets of biopsies were analyzed. RESULTS: Data from 138 patients were available for analysis. Pernicious anemia was present in 25% of patients, iron deficiency anemia was found in 29.7% of patients, hypothyroidism in 23% of patients, type 1 diabetes in 7.9% of patients, and vitiligo in 2.8% of patients. Parietal cell antibodies were positive in 65% of patients, and no patient had serology positive for celiac disease. All gastric biopsies showed glandular atrophy associated with enterochromaffin-like (ECL)-cells hyperplasia, features limited to the mucosa of the fundus and body, and focal glandular intestinal metaplasia. Helicobacter pylori was negative in all cases. CONCLUSIONS: AIG was strongly associated with anemia; atrophy, intestinal metaplasia and ECL hyperplasia in the gastric fundus and body are hallmarks of this condition.


Subject(s)
Anemia, Iron-Deficiency/epidemiology , Anemia, Pernicious/epidemiology , Autoimmune Diseases/complications , Gastritis/complications , Helicobacter pylori/isolation & purification , Adolescent , Adult , Aged , Aged, 80 and over , Atrophy , Autoantibodies/blood , Diabetes Mellitus, Type 1/epidemiology , Enterochromaffin Cells/pathology , Enterochromaffin-like Cells/pathology , Female , Gastric Fundus/pathology , Gastritis/pathology , Humans , Hyperplasia , Hypothyroidism/epidemiology , Intestines/pathology , Italy , Male , Metaplasia/pathology , Middle Aged , Parietal Cells, Gastric/immunology , Retrospective Studies , Vitiligo/epidemiology , Young Adult
5.
Histopathology ; 68(6): 866-74, 2016 May.
Article in English | MEDLINE | ID: mdl-26334919

ABSTRACT

AIMS: The correct identification of solid cell nests (SCNs) is an important issue in thyroid pathology because of the spectrum of differential diagnoses of this type of lesion. METHODS AND RESULTS: Ten cases of 295 consecutive thyroidectomies showed the presence of SCNs at histological examination. The identification of the exact SCN type required the distinction of the cystic and solid pattern; SCNs were usually composed of a mixture of main cells (MCs) and C-cells (CCs). The immunohistochemical calcitonin stain identified CCs easily, both inside SCNs and dispersed in islets at the periphery. For the characterization of MCs, we added the utility of p40 to p63. The use of thyroid transcription factor-1 (TTF-1) helped in their identification, as MCs did not react with this marker; the combination of TTF-1 and p40 or p63 IHC stains was useful for the characterization of cystic SCNs of both types 3 and 4. The negativity of mouse monoclonal mesothelioma antibody (HMBE-1) and a very low proliferative index (MIB-1) supported the diagnosis. [Correction added on 23 November 2015, after online publication: MIB-1 was incorrectly defined, the expanded form was deleted.] We discourage the use of galectin-3 (Gal-3) and cytokeratin-19 (CK-19), as they have an important overlap with papillary thyroid carcinoma. The complete absence of any B-Raf proto-oncogene, serine/threonine kinase (BRAF) mutations is an additional fundamental finding. CONCLUSIONS: We reviewed the most relevant morphological and immunohistochemical features of SCNs and have provided a genetic analysis of the BRAF gene because of its expanding use in thyroid pathology.


Subject(s)
Thyroid Diseases/diagnosis , Thyroid Gland/pathology , Adult , Aged , Biomarkers/analysis , Carcinoma/diagnosis , Carcinoma, Papillary , Diagnosis, Differential , Female , Humans , Immunohistochemistry , Male , Middle Aged , Proto-Oncogene Mas , Thyroid Cancer, Papillary , Thyroid Neoplasms/diagnosis
6.
Biomedicines ; 12(2)2024 Jan 25.
Article in English | MEDLINE | ID: mdl-38397874

ABSTRACT

A group of 27 patients diagnosed with metastatic triple-negative breast cancer (mTNBC) was randomly distributed into two groups and underwent different lines of metronomic treatment (mCHT). The former group (N 14) received first-line mCHT and showed a higher overall survival rate than the second group (N 13), which underwent second-line mCHT. Analysis of one patient still alive from the first group, diagnosed with mTNBC in 2019, showed a complete metabolic response (CMR) after a composite approach implicating first-line mCHT followed by second-line epirubicin and third-line nab-paclitaxel, and was chosen for subsequent molecular characterization. We found altered expression in the cancer stemness-associated gene NOTCH-1 and its corresponding protein. Additionally, we found changes in the expression of oncogenes, such as MYC and AKT, along with their respective proteins. Overall, our data suggest that a first-line treatment with mCHT followed by MTD might be effective by negatively regulating stemness traits usually associated with the emergence of drug resistance.

7.
Liver Int ; 33(7): 1128-31, 2013 Aug.
Article in English | MEDLINE | ID: mdl-23601438

ABSTRACT

BACKGROUND & AIMS: Coeliac disease patients frequently display mild elevation of liver enzymes and this abnormality usually normalizes after gluten-free diet. To investigate the cause and prevalence of altered liver function tests in coeliac patients, basally and after 1 year of gluten-free diet. PATIENTS AND METHODS: Data from 245 untreated CD patients (196 women and 49 men, age range 15-80 years) were retrospectively analysed and the liver function tests before and after diet, as well as associated liver pathologies, were assessed. RESULTS: Overall, 43/245 (17.5%) patients had elevated values of one or both aminotransferases; the elevation was mild (<5 times the upper reference limit) in 41 (95%) and marked (>10 times the upper reference limit) in the remaining 2 (5%) patients. After 1 year of gluten-free diet, aminotransferase levels normalized in all but four patients with HCV infection or primary biliary cirrhosis. CONCLUSIONS: In coeliac patients, hypertransaminaseaemia at diagnosis and the lack of normalization of liver enzymes after 12 months of diet suggest coexisting liver disease. In such instance, further evaluation is recommended to exclude the liver disease. Early recognition and treatment of coeliac disease in patients affected by liver disease are important to improve the liver function and prevent complications.


Subject(s)
Celiac Disease/diet therapy , Diet, Gluten-Free/adverse effects , Liver Diseases/epidemiology , Liver Diseases/etiology , Adolescent , Adult , Aged , Female , Humans , Liver Diseases/enzymology , Liver Function Tests , Male , Middle Aged , Prevalence , Retrospective Studies , Time Factors
8.
Rev Esp Enferm Dig ; 105(6): 326-33, 2013 Jul.
Article in English | MEDLINE | ID: mdl-24090014

ABSTRACT

BACKGROUND AND AIMS: the diagnosis of celiac disease requires small bowel biopsies to identify the characteristic mucosal changes. The current biopsy practice among endoscopists for celiac disease is in most part unknown. The aim of this study was to compare the different diagnostic policies in various centers in their current practice. METHOD: information from a total of 931 confirmed celiac disease patients was retrospectively obtained retrospectively from nine centers in European and Middle Eastern countries. The number of small-bowel biopsies obtained from the duodenal bulb and the second part of the duodenum was compared among different centers. RESULTS: the most frequent stage of mucosal changes amongst Iranian subjects was Marsh IIIa whereas in the rest of the study population was Marsh IIIc. Marsh I and Marsh II were more prevalent in adults (P < 0.05) and Marsh IIIc was significantly higher in pediatric ages between 1 and 15 (P < 0.05). The most common number of biopsy specimens obtained from Romanian subjects was 1 (52% of cases), followed by 2 for Iranian (56%), 3 for Lithuanian (66.7%) and British patients (65%) and 4 for Italian patients (48.3%). For majority of cases, anemia was the most prevalent symptom (18.7%) followed by malabsorption (10.5%), diarrhea (9.3%) and dyspepsia (8.2%), respectively. CONCLUSIONS: despite the evidence-based recommendations, this study revealed a poor compliance with major guidelines on diagnosis of celiac disease. We emphasize that taking adequate number of duodenal biopsies should be implemented for an accurate diagnosis and also for the exclusion of celiac disease.


Subject(s)
Celiac Disease/pathology , Endoscopy, Gastrointestinal , Adolescent , Adult , Aged , Biopsy , Child , Child, Preschool , Duodenum/pathology , Female , Humans , Male , Middle Aged , Retrospective Studies , Young Adult
9.
Crit Rev Oncol Hematol ; 190: 104103, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37595344

ABSTRACT

Pembrolizumab has received approval as a first-line treatment for unresectable/metastatic triple-negative breast cancer (mTNBC) with a PD-L1 combined positive score (CPS) of ≥ 10. However, assessing CPS in mTNBC poses challenges. Firstly, it represents a novel analysis for breast pathologists. Secondly, the heterogeneity of PD-L1 expression in mTNBC further complicates the assessment. Lastly, the lack of standardized assays and staining platforms adds to the complexity. In KEYNOTE trials, PD-L1 expression was evaluated using the IHC 22C3 pharmDx kit as a companion diagnostic test. However, both the 22C3 pharmDx and VENTANA PD-L1 (SP263) assays are validated for CPS assessment. Consequently, assay-platform choice, staining conditions, and scoring methods can significantly impact the testing outcomes. This consensus paper aims to discuss the intricacies of PD-L1 CPS testing in mTNBC and provide practical recommendations for pathologists. Additionally, we present findings from a nationwide Italian survey elucidating the state-of-the-art in PD-L1 CPS testing in mTNBC.


Subject(s)
B7-H1 Antigen , Triple Negative Breast Neoplasms , Humans , Pathologists , Triple Negative Breast Neoplasms/diagnosis , Triple Negative Breast Neoplasms/drug therapy , Triple Negative Breast Neoplasms/genetics , Breast , Consensus
10.
Sleep Breath ; 16(4): 1033-40, 2012 Dec.
Article in English | MEDLINE | ID: mdl-21948102

ABSTRACT

OBJECTIVE: The objective of this study was to verify a possible correlation between the etiology of uvulopalatal ptosis and decrease in palatopharyngeal muscle tone, due to a reduction of the number of nerve fibers in surgical specimens obtained from snoring patients. DESIGN/SETTING OF THE STUDY: We have designed a comparative retrospective, case-control, double-blind, immunohistochemical and histomorphometric study of human uvula innervation in 51 apneic snoring patients who underwent uvulopalatopharyngoplasty (UPPP) and 47 normal subjects collected in a 5-year-long period in the Departments of Otolaryngology of Desio and Forlì Hospital, Italy. PATIENTS: Case study was chosen in patients who underwent UPPP, variably associated with other disobstructive surgical procedures for treatment of obstructive sleep apnea syndrome, classified according to current clinical, polysomnographic, endoscopic, and imaging criteria. Control subjects were recruited at the Institute of Legal Medicine, University of Milan, according to strong inclusion and exclusion criteria. The main outcome measure of the study was the number of nerve fibers in the patients' uvula evaluated histologically and repeated two times by two different people, in all the areas of the specimens. Finally, we correlated the area of the histological section with the number of fibers contained therein. RESULTS: The number of nerve fibers varied from a minimum of 58 to a maximum of 163 in normal subjects. In the snoring patient population, the number of nerve fibers varied from a minimum of 22 to a maximum of 126 (statistically significant difference, p < 0.0001). In conclusion, our results direct toward a clear neurogenetic predisposition to uvulopalatal ptosis, marked ab initio by a lower set of motor nerve fibers, which may be the initial stage of another subsequent morphological and functional abnormality.


Subject(s)
Nerve Fibers/pathology , Nerve Fibers/physiology , Sleep Apnea, Obstructive/physiopathology , Snoring/pathology , Snoring/physiopathology , Uvula/innervation , Adult , Aged , Biopsy , Body Mass Index , Female , Humans , Male , Middle Aged , Pharyngeal Muscles/innervation , Polysomnography , Reference Values , Sleep Apnea, Obstructive/pathology , Sleep Apnea, Obstructive/surgery , Young Adult
11.
Ann Diagn Pathol ; 16(2): 112-8, 2012 Apr.
Article in English | MEDLINE | ID: mdl-22056037

ABSTRACT

A retrospective study correlating the diagnosis made on core needle breast biopsy (CNB) with the diagnosis made on the final surgical specimen was done using the British National Health Service Breast Cancer Screening Programme (NHSBSP) classification for CNB on 226 patients during a period of 15 months. Statistical analysis was used to evaluate sensitivity, specificity, and positive and negative predictive values of the NHSBSP diagnostic categories. Cohen κ was used to evaluate the agreement between the diagnosis on CNB and the final pathologic diagnosis in "clinically positive cases." Finally, a comparative analysis between the CNB method and fine needle aspiration biopsy was made. The distribution of our cases for each diagnostic category reflects the literature guidelines, with minor differences in the B2 and B4 groups. Statistical data about the patients' follow-up revealed a small number of false-negative cases in the B1 and B2 categories and no false-positive cases in the B4 and B5 groups. Uncertain malignant lesions (B3 category) were divided into 3 major areas (papillary lesions, fibroepithelial proliferations with cellular stroma, and intraepithelial atypical lesions such as ductal intraepithelial neoplasia grade 1/lobular intraepithelial neoplasia grade 1). Of the 29 patients in the B3 category, 26 underwent surgery. Cohen κ analysis showed a strong statistical correlation (κ = 0.77; Z = 4.3; significance >1.96; α = .05) between CNB diagnosis and surgical pathology final results in the subgroup of high-risk patients (diagnosis, ≥ductal intraepithelial neoplasia grade 1 on CNB). Global diagnostic power of CNB in all 226 cases revealed high sensitivity (88.3%) and slightly lower specificity (72.8%). In 42 "doubtful" cases, synchronous fine needle aspiration biopsy and CNB were performed, showing a complementary role in the diagnostic phase of breast lesions. Core needle breast biopsy represents the criterion standard method in the diagnostic phase of many breast tumors; the NHSBSP classification is a useful reporting system that provides a good standardization of the pathologic diagnosis and provides a clear guideline for the correct management of the patient.


Subject(s)
Breast Neoplasms/classification , Early Detection of Cancer , Biopsy, Needle , Breast Neoplasms/pathology , Breast Neoplasms/surgery , Female , Humans , National Health Programs , Retrospective Studies , Sensitivity and Specificity , State Medicine , United Kingdom
12.
Nutrients ; 14(12)2022 Jun 15.
Article in English | MEDLINE | ID: mdl-35745217

ABSTRACT

Background: Histological changes induced by gluten in the duodenal mucosa of patients with non-coeliac gluten sensitivity (NCGS) are poorly defined. Objectives: To evaluate the structural and inflammatory features of NCGS compared to controls and coeliac disease (CeD) with milder enteropathy (Marsh I-II). Methods: Well-oriented biopsies of 262 control cases with normal gastroscopy and histologic findings, 261 CeD, and 175 NCGS biopsies from 9 contributing countries were examined. Villus height (VH, in µm), crypt depth (CrD, in µm), villus-to-crypt ratios (VCR), IELs (intraepithelial lymphocytes/100 enterocytes), and other relevant histological, serologic, and demographic parameters were quantified. Results: The median VH in NCGS was significantly shorter (600, IQR: 400−705) than controls (900, IQR: 667−1112) (p < 0.001). NCGS patients with Marsh I-II had similar VH and VCR to CeD [465 µm (IQR: 390−620) vs. 427 µm (IQR: 348−569, p = 0·176)]. The VCR in NCGS with Marsh 0 was lower than controls (p < 0.001). The median IEL in NCGS with Marsh 0 was higher than controls (23.0 vs. 13.7, p < 0.001). To distinguish Marsh 0 NCGS from controls, an IEL cut-off of 14 showed 79% sensitivity and 55% specificity. IEL densities in Marsh I-II NCGS and CeD groups were similar. Conclusion: NCGS duodenal mucosa exhibits distinctive changes consistent with an intestinal response to luminal antigens, even at the Marsh 0 stage of villus architecture.


Subject(s)
Celiac Disease , Glutens , Biopsy , Diet, Gluten-Free , Duodenum/pathology , Glutens/adverse effects , Humans , Intestinal Mucosa
13.
Cancers (Basel) ; 13(21)2021 Oct 29.
Article in English | MEDLINE | ID: mdl-34771602

ABSTRACT

Objective: The American College of Radiology (ACR) and the European Thyroid Association (EU) have proposed two scoring systems for thyroid nodule classification. Here, we compared the ability of the two systems in triaging thyroid nodules for fine-needle aspiration (FNA) and tested the putative role of an approach that combines ultrasound features and cytology for the detection of malignant nodules. Design and Methods: The scores obtained with the ACR and EU Thyroid Imaging Reporting and Data Systems (TIRADS) from a prospective series of 480 thyroid nodules acquired from 435 subjects were compared to assess their performances in FNA triaging on the final cytological diagnosis. The US features that showed the highest contribution in discriminating benign nodules from malignancies were combined with cytology to improve its diagnostic performance. Results: FNA was recommended on 46.5% and 51.9% of the nodules using the ACR and EU-TIRADS scores, respectively. The ACR system demonstrated a higher specificity as compared to the EU-TIRADS (59.0% vs. 52.4%, p = 0.0012) in predicting ≥ TIR3A/III (SIAPEC/Bethesda) nodules. Moreover, specific radiological features (i.e., echogenic foci and margins), combined with the cytological classes improved the specificity (97.5% vs. 91%, p < 0.0001) and positive predictive values (77.5% vs. 50.7%, p < 0.0001) compared to cytology alone, especially in the setting of indeterminate nodules (TIR3A/III and TIR3B/IV), maintaining an excellent sensitivity and negative predictive value. Conclusions: The ACR-TIRADS system showed a higher specificity compared to the EU-TIRADS in triaging thyroid nodules. The use of specific radiological features improved the diagnostic ability of cytology.

14.
Cancers (Basel) ; 13(9)2021 May 06.
Article in English | MEDLINE | ID: mdl-34066485

ABSTRACT

Ultrasound scores are used to determine whether thyroid nodules should undergo Fine Needle Aspiration (FNA) or simple clinical follow-up. Different scores have been proposed for this task, with the American College of Radiology (ACR) TIRADS system being one of the most widely used. This study evaluates its ability in triaging thyroid nodules deserving FNA on a large prospective monocentric Italian case series of 493 thyroid nodules from 448 subjects. In ACR 1-2, cytology never prompted a surgical indication. In 59% of cases classified as TIR1c-TIR2, the FNA procedure could be ancillary, according to the ACR-TIRADS score. A subset (37.9%) of cases classified as TIR4-5 would not undergo FNA, according to the dimensional thresholds used by the ACR-TIRADS. Applying the ACR score, a total of 46.5% thyroid nodules should be studied with FNA. The ACR system demonstrated a sensitivity and specificity of 58.9% and 59% in the identification of patients with cytology ≥TIR3A, with a particularly high false negative rate for ACR classes ≥3 (44.8%, 43/96), which would dramatically decrease (7.3%, 7/96) if the dimensional criteria were not taken into account. In ACR 3-4-5, a correspondence with the follow-up occurred in 60.3%, 50.2% and 51.9% of cases. The ACR-TIRADS is a useful risk stratification tool for thyroid nodules, although the current dimensional thresholds could lead to an underestimation of malignant lesions. Their update might be considered in future studies to increase the screening performances of the system.

15.
Case Rep Radiol ; 2021: 9305811, 2021.
Article in English | MEDLINE | ID: mdl-34367709

ABSTRACT

We report the case of a 45-year-old woman with a slow-growing palpable nodule on the left breast, confirmed as a well-defined opacity on mammography, corresponding to a 5 cm hyperechoic lesion on ultrasound, and considered, on the basis of clinical examination and radiological findings, to be consistent with a lipoma. One year later, the patient represented with an enlarged left breast mass and underwent further imaging investigation with subsequent diagnosis of primary breast angiosarcoma obtained via a Vacuum-Assisted Breast Biopsy. The patient developed metastatic disease and succumbed to the disease one year after definitive diagnosis. Primary breast angiosarcoma is a rare malignant vascular neoplasia, characterized by aggressive patterns, poor prognosis, and absence of pathognomonic radiological features. Currently, there are no evidence-based guidelines regarding treatment, even though wide surgical resection followed by chemo- and radiotherapy appears to improve survival.

16.
J Clin Pathol ; 72(8): 536-541, 2019 Aug.
Article in English | MEDLINE | ID: mdl-31055472

ABSTRACT

AIMS: Very recent papers proposed a possible role for the expression of terminal deoxynucleotidyl transferase (TdT) in the tumourigenesis of gonadal and extragonadal germ cell-derived tumours (GCTs). Our multicentric study evaluated the magnitude of the immunoreactivity for TdT in GCTs, encompassing seminoma, dysgerminoma, mature teratoma and mixed GCTs. METHODS AND RESULTS: The histological series was stained with both monoclonal and polyclonal antibodies, yielding a positivity of 80% of cases with well-defined nuclear reactivity. A significant difference in staining intensity between monoclonal and polyclonal antibodies was observed (p=0.005). However, exploiting western blot and more innovative proteomic approaches, no clear-cut evidence of the TdT protein was observed in the neoplastic tissues of the series. CONCLUSIONS: Alternatively to the pathogenetic link between TdT expression and GCTs tumourigenesis, we hypothesised the occurrence of a spurious immunohistochemical nuclear cross-reaction, a well-known phenomenon with important implications and a possible source of diagnostic pitfalls in routine practice for pathologists.


Subject(s)
Antibodies, Monoclonal/immunology , Antibody Specificity , Biomarkers, Tumor/analysis , DNA Nucleotidylexotransferase/analysis , Immunohistochemistry , Mediastinal Neoplasms/enzymology , Neoplasms, Germ Cell and Embryonal/enzymology , Ovarian Neoplasms/enzymology , Testicular Neoplasms/enzymology , Biomarkers, Tumor/immunology , Cross Reactions , DNA Nucleotidylexotransferase/immunology , Female , Humans , Italy , Male , Mediastinal Neoplasms/immunology , Mediastinal Neoplasms/pathology , Neoplasms, Germ Cell and Embryonal/immunology , Neoplasms, Germ Cell and Embryonal/pathology , Ovarian Neoplasms/immunology , Ovarian Neoplasms/pathology , Predictive Value of Tests , Reproducibility of Results , Testicular Neoplasms/immunology , Testicular Neoplasms/pathology
17.
Sci Rep ; 9(1): 13179, 2019 Sep 12.
Article in English | MEDLINE | ID: mdl-31515532

ABSTRACT

In 2017, the WHO classification of tumours of the endocrine organs established the criteria for a NIFTP diagnosis. The present paper considers some aspects that are still debated or unresolved: the real incidence and clinical meaning of multifocal/multinodular lesions, the biological behaviour of micro-NIFTP, the sprinkling phenomenon and the corresponding modifications to the FNA reporting systems based on changes to the ROM. Moreover, the paper suggests possible scenarios for the clinical-pathological management of this entity. From the initial 1470 cases, a group of 68 NIFTPs was recruited in a 9 year-long period. The average age at diagnosis was 55 years. The average diameter of the lesion was 1.7 cm (0.1 cm-10 cm). In 41 cases (60.1%), the lesion was inserted in the context of a multinodular background. In 12 cases, the diagnosis was incidental and the pre- operative FNA was performed on a different target. In 10 out of 68 cases, there was a multifocal NIFTP; in 14.7% of patients, PTC-like nuclear features showed sprinkling phenomenon. The cytological revision allocated 21 cases (49%) to the SIAPEC TIR3 indeterminate class and a nuclear score 2 or 3 were identified in 25 smears. Multifocality is part of the spectrum of NIFTPs, that can arise in a multinodular background with variable sizes from microscopic lesions to very large ones. Cytopathological criteria such as an evaluation of the nuclear score may help the pathologists in promoting a NIFTP diagnosis in the preoperative setting.


Subject(s)
Preoperative Care , Thyroid Gland , Thyroid Neoplasms , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Thyroid Gland/metabolism , Thyroid Gland/pathology , Thyroid Neoplasms/diagnosis , Thyroid Neoplasms/metabolism , Thyroid Neoplasms/pathology
18.
Gastroenterol Hepatol Bed Bench ; 11(3): 197-202, 2018.
Article in English | MEDLINE | ID: mdl-30013742

ABSTRACT

Non-celiac gluten sensitivity (NCGS), also referred to as non-celiac wheat sensitivity (NCWS), is a clinical syndrome characterized by both intestinal and extra-intestinal symptoms responsive to the withdrawal of gluten-containing food from the diet. The aim of this review is to summarize recent advances in research and provide a brief overview of the history of the condition for the benefit of professionals working in gastroenterology. Academic databases such as PubMed and Google Scholar were searched using key words such as "non-celiac gluten sensitivity", "gluten related disorders", and the studies outlined in reference page were selected and analysed. Most of the analysed studiers agree that NCGS would need to be diagnosed only after exclusion of celiac disease and wheat allergy, and that a reliable serological marker is not available presently. The mechanisms causing symptoms in NCGS after gluten ingestion are largely unknown, but recent advances have begun to offer novel insights. The estimated prevalence of NCGS, at present, varies between 0.6 and 6%. There is an overlap between irritable bowel syndrome and NCGS with regard to the similarity of gastrointestinal symptoms. The histologic characteristics of NCGS are still under investigation, ranging from normal histology to slight increase in the number of T lymphocytes in the superficial epithelium of villi. Positive response to gluten free diet for a limited period (e.g., 6 weeks), followed by the reappearance of symptoms after gluten challenge appears, at this moment, to be the best approach for confirming diagnosis. The Salerno expert criteria may help to diagnose NCGS accurately in particular for research purposes but it has limited applicability in clinical practice.

20.
World J Gastroenterol ; 12(25): 4096-7, 2006 Jul 07.
Article in English | MEDLINE | ID: mdl-16810769

ABSTRACT

Metastatic tumors of the gastrointestinal tract are rare. We describe a case of gastric metastasis due to primary lung cancer, revealed by an upper gastrointestinal endoscopy (UGIE). Haematogenous metastases to the stomach are a rare event. To our knowledge, only 55 cases have been described in the international literature. In these patients, the prognosis is very poor. We report herein a case of gastric metastasis by lung small cell carcinoma, with a review of the literature about this rare entity.


Subject(s)
Carcinoma, Small Cell/secondary , Lung Neoplasms/pathology , Stomach Neoplasms/secondary , Carcinoma, Small Cell/diagnosis , Fatal Outcome , Humans , Lung Neoplasms/diagnosis , Male , Middle Aged , Neoplasm Metastasis , Stomach Neoplasms/diagnosis
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