Mucosa associated lymphoid tissue lymphoma of the thyroid gland: a case report and literature review = MALT linfoma della tiroide: caso clinico e revisione della letteratura

Mucosa associated lymphoid tissue (MALT) lymphomas are low-grade, non-Hodgkin’s B cell lymphomas, mainly occurring in the gastrointestinal tract, but also in other tissues. We describe the management of a patient with hypothyroidism, tracheoesophageal compressive symptoms and chest tightness affected by a thyroid MALT lymphoma. The patient underwent debulking thyroidectomy and temporary tracheostomy in order to reduce dysphonia and dysphagia, followed by adjuvant chemotherapy and subsequently radiation therapy. A CT scan performed at the end of radiotherapy 6 months after surgery revealed remnants of residual tissue from the thyroidectomy without any pathological findings. I linfomi MALT sono dei linfomi non-Hodgkin a cellule B a basso grado che in genere insorgono a livello del tratto gastrointestinale, ma anche in altri tessuti. Descriviamo in questo articolo il management clinico-chirurgico di un paziente con ipotiroidismo, sintomi da compressione tracheo-esofagea e senso di oppressione toracica, affetto da linfoma MALT della tiroide. Il paziente è stato sottoposto a parziale asportazione della massa tiroidea e tracheostomia allo scopo di ridurre i sintomi compressivi ed in seguito a trattamento chemioterapico e radioterapico. L’esame TC effettuato una volta conclusa la radioterapia, circa 6 mesi dopo l’intervento, ha evidenziato gli esiti della tiroidectomia parziale in assenza di altri reperti patologici

Noncoding RNAs in Gallbladder Cancer

Gallbladder cancer (GBC) is the most frequent malignancy of the biliary tract, representing about 85–90% of the cancers involving this anatomical district; it is characterized by high mortality rates with less than 10% of the sufferers surviving more than 5 years. Extensive scientific research is needed in order to identify biomarkers for early diagnosis, improve the treatment options available, and assess new effective therapies. Consistent improvements have been made in recent years in the field of noncoding RNAs. More than 90% of the human genome is constituted by a noncoding portion that actively transcribes an enormous and complex amount of RNA, while only approximately 2% represents the coding genes. Noncoding RNAs are divided into two categories in accordance with their dimensions: small RNAs, which are made by less than 200 nucleotides, and long RNAs, which are bigger. MicroRNAs (miRNAs) and long noncoding RNA (lncRNAs) are the main subclasses, respectively, which concentrate consistent scientific efforts in recent times with promising results in several diseases, including cancer. In this review, we summarize the roles of miRNAs and lncRNAs in gallbladder cancer pathophysiology and their possible translational implication in the diagnosis and treatment of this aggressive disease

Molecular analysis of appendiceal mucinous cystadenoma and rectal adenocarcinoma in a patient with urothelial carcinoma: a case report

Introduction: In this report, we present the case of a patient affected by appendiceal cystadenoma, a colorectal adenocarcinoma, and a concomitant bladder carcinoma, as well as the results of the molecular study of the most relevant mutational pathways involved in these tumors. Case presentation: A 68-year-old Italian man was admitted to our unit complaining of macrohematuria, rectorrhagia, and rectal tenesmus for about 2 months. A colonoscopy showed the presence of a rectal lesion at 11cm from the anal margin; multiple biopsies were performed and a diagnosis of moderately differentiated adenocarcinoma was made. Abdominal ultrasonography and total body computed tomography performed subsequently to stage the rectal cancer showed the presence of two round nodules, interpreted as swollen lymph nodes of neoplastic origin, at the anterior aspect of the iliopsoas muscle and a budding lesion affecting the bladder. The patient underwent transurethral biopsy of the lesion in the right retrotrigonal region; the diagnosis was grade II urothelial carcinoma. The patient underwent an open anterior rectal resection with loco-regional lymphadenectomy. An enlarged appendix and a voluminous whitish soft-tissue lesion requiring an appendicectomy were detected perioperatively. Transurethral resection of the bladder lesion was also performed. The histological examination revealed that the nodular lesions in the appendix were due to a cystadenoma. For mutation analysis, genomic deoxyribonucleic acid was isolated from tumor tissue samples; for PIK3CA mutations, screening revealed that all three samples analyzed carried mutations in exon 9. Conclusions: Appendiceal mucoceles are rare but require adequate surgical treatment, given their malignant potential and the possibility of causing peritoneal pseudomyxoma. It is essential to make a correct preoperative evaluation based on a colonoscopy rather than ultrasound and computed tomography to exclude synchronous neoplasias often associated with mucoceles and to plan the optimum surgical strategy. The association between appendiceal mucoceles and other neoplasias is relatively frequent, especially with colorectal cancer. Oncogenic activation in the PIK3CA-depending pathway may contribute substantially to the pathogenesis of the different solid tumors in the same patient

Lung cancer epidemiology in North Sardinia, Italy

Background The aim of this study was to analyze and describe the epidemiological characteristics and trends of lung cancer in North Sardinia, Italy, in the period 1992–2010. Methods Data were obtained from the tumor registry of Sassari province which is a part of a wider registry web, coordinated today by the Italian Association for Tumor Registries. Results The overall number of lung cancer cases registered was 4,325. The male-to-female ratio was 4.6:1 and the mean age 68.1 years for males and 67 years for females. The standardized incidence rates were 73.1/100,000 and 13.5/100,000 and the standardized mortality rates 55.7/100,000 and 9.9/100,000 for males and females, respectively. An increasing trend in incidence of lung cancer in women was evidenced. Conversely, incidence was found to decrease in males. Relative survival at 5 years from diagnosis was low (8.8% for males and 14.9% for females). Furthermore, an increase in mortality rates was observed in both sexes in the period under investigation. Conclusions Our data show an increasing trend of lung cancer incidence in women in North Sardinia in the last decades. Conversely, a reduction of incidence rates was observed in males. Furthermore, a slightly increasing trend in mortality rates was observed in both sexes, suggesting the need to enhance smoking control strategies, consider adoption of effective surveillance policies, and improve diagnosis and treatment methods

Epidemiology and Genetic Susceptibility of Breast and Ovarian Cancer in Sardinian Population

The objective of this population-based study is to describe epidemiological and genetic features of breast and ovarian cancer in North Sardinia, Italy. Patients who carry a high-risk mutation in one or both of the BRCA genes (BRCA1 or BRCA2) have a significantly increased risk of developing breast/ovarian cancer (BOC) and other cancers (e.g., prostate cancer in male). Epidemiological data on incidence distribution of breast/ovarian cancer from 2016 to 2019 in North Sardinia are obtained from the local tumor registry and from the cumulative results of 209 genetic testing for BRCA gene mutations performed in all young breast cancer patients and all women (over 50 years) with family history of BOC (total of 164 cases); further, 45 genetic testing is performed, on ovarian cancer patients, at any age. The results provide a different distribution of fraction mutations carried by women and a higher prevalence of the BRCA2 mutation in the north of Sardinia than the entire population and highlight the presence of specific germline mutation associated with the “founder effect” in distinct genetic subgroups reflecting genetic drift. Advances in next-generation sequencing technology, data analysis, and clinical investigation have revolutionized efforts to identify potential targets for BRCA molecular-based therapeutic agents

Breast cancer incidence and mortality in North Sardinia in the period 1992–2010

The aim of this study was to analyze and describe the epidemiological characteristics and trends of breast cancer in Sassari province (Sardinia, Italy) in the period 1992 2010. Data were obtained from the local tumor registry which makes part of a wider registry web, coordinated today by the Italian Association for Tumor Registries. The overall number of breast cancer cases registered was 5,483 (46 males and 5,437 females). The mean age was 64.8 years for males and 60.4 years for females. The standardized incidence rates were 1/100,000 and 106.2/100,000 and the standardized mortality rates 0.3/100,000 and 23.2/100,000 for males and females respectively. An increasing trend in incidence and mortality rates of breast cancer in Sassari province was evidenced in the years under investigation. Relative survival at 5 years from diagnosis was 78.2% (73.1% for males and 78.3% for females

D-Dimer Concentrations and COVID-19 Severity: A Systematic Review and Meta-Analysis

Coronavirus disease 2019 (COVID-19) is a recently described infectious disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Since late 2019, COVID-19 has rapidly spread in virtually all countries, imposing the adoption of significant lockdown and social distancing measures. The activation of the coagulation cascade is a common feature of disseminated intravascular coagulation and adverse clinical outcomes in COVID-19 patients. In this study, we conducted a meta-analysis aiming to investigate differences in serum D-dimer concentrations in patients with and without severe COVID-19 disease. An electronic search in Medline (PubMed), Scopus and Web of Science was performed with no language restrictions, and 13 articles were reporting on 1,807 patients (585, 32.4% with severe disease) were finally identified and included in the meta-analysis. The pooled results of all studies revealed that the D-dimer concentrations were significantly higher in patients with more severe COVID-19 (SMD: 0.91 mg/L; 95% CI, 0.75 to 1.07 mg/L, p < 0.0001). The heterogeneity was moderate (I 2 = 46.5%; p = 0.033). Sensitivity analysis showed that the effect size was not modified when any single study was in turn removed (effect size range, 0.87 mg/L to 0.93 mg/L). The Begg’s (p = 0.76) and Egger’s tests (p = 0.38) showed no publication bias. In conclusion, our systematic review and meta-analysis showed that serum D-dimer concentrations in patients with severe COVID-19 are significantly higher when compared to those with non-severe forms.This research was funded by Qatar University [IRCC-2019-007] to GN and GP, Regione Autonoma della Sardegna [RASSR82005] to GP and AZ, and fondo UNISS di Ateneo per la ricerca 2019 to GP and AZ

Primary dermal melanoma in a patient with a history of multiple malignancies: a case report with molecular characterization

Introduction: Primary dermal melanoma (PDM) is a recently described clinical entity accounting for less than 1% of all melanomas. Histologically, it is located in the dermis or subcutaneous tissue, and it shows no connections with the overlying epidermis. The differential diagnosis is principally made along with that of metastatic cutaneous melanoma. Case Report: A 72-year-old Caucasian woman with a history of multiple cancers (metachro-nous bilateral breast cancer, meningioma, clear cell renal cell carcinoma, uterine fibromatosis and intestinal adenomatous polyposis), came to our attention with a nodular lesion on her back. After removal of the lesion, the histology report indicated malignant PDM or metastatic malignant melanoma. The clinical and instrumental evaluation of the patient did not reveal any other primary tumour, suggesting the primitive nature of the lesion. The absence of an epithelial component argued for a histological diagnosis of PDM. Subsequently, the patient underwent a wide surgical excision with sentinel node biopsy, which was positive for metastatic melanoma. Finally, the mutational status was studied in the main genes that regulate proliferation, apoptosis and cellular senescence. No pathogenetic mutations in CDKN2A, BRAF, NRAS, KRAS, cKIT, TP53 and PTEN genes were observed. This suggests that alternative pathways and low-frequency alterations may be involved. Conclusions: The differential diagnosis between PDM and isolated metastatic melanoma depends on the negativity of imaging studies and clinical findings for other primary lesions. This distinction is important because 5-year survival rates in such cases are higher than in metastatic cases (80– 100 vs. 5–20%, respectively)

Warthin-like papillary carcinoma of the thyroid gland: case report and review of the literature

We present a case of Warthin-like papillary thyroid carcinoma in a 22-year-old woman and a review of the literature on the topic. The patient had the occasional discovery of a hypoechoic thyroid nodule of approximately 18 mm, characterized by irregular margins, hyperechoic spots, rich intra- and perilesional vascularization, and a suspicious enlarged right laterocervical lymph node. Fine-needle aspiration was performed for both lesions and the diagnosis of papillary thyroid carcinoma without lymph node involvement was made. The patient underwent thyroidectomy and central neck lymphadenectomy without complications. Histopathological examination suggested a Warthin-like papillary carcinoma of the thyroid gland, with all the removed lymph nodes being free of disease. The patient subsequently underwent iodine ablative therapy and she remains free of disease one year after surgery. Warthin-like papillary thyroid carcinoma is a recently described variant of papillary thyroid cancer that is frequently associated with lymphocytic thyroiditis. Morphologically, it resembles Warthin tumors of the salivary glands, with T and B lymphocytes infiltrating the stalks of papillae lined with oncocytic cells. Surgical and postoperative management is identical to that of classic differentiated thyroid cancer, while prognosis seems to be favourable

Pathogenetic, Prognostic, and Therapeutic Role of Fatty Acid Synthase in Human Hepatocellular Carcinoma

Hepatocellular carcinoma (HCC) is one of the most common solid tumors worldwide, characterized by clinical aggressiveness, resistance to conventional chemotherapy, and high lethality. Consequently, there is an urgent need to better delineate the molecular pathogenesis of HCC to develop new preventive and therapeutic strategies against this deadly disease. Noticeably, emerging evidence indicates that proteins involved in lipid biosynthesis are important mediators along the development and progression of HCC in humans and rodents. Here, we provide a comprehensive overview of: (a) The pathogenetic relevance of lipogenic proteins involved in liver carcinogenesis, with a special emphasis on the master fatty acid regulator, fatty acid synthase (FASN); (b) The molecular mechanisms responsible for unrestrained activation of FASN and related fatty acid biosynthesis in HCC; (c) The findings in experimental mouse models of liver cancer and their possible clinical implications; (d) The existing potential therapies targeting FASN. A consistent body of data indicates that elevated levels of lipogenic proteins, including FASN, characterize human hepatocarcinogenesis and are predictive of poor prognosis of HCC patients. Pharmacological or genetic blockade of FASN is highly detrimental for the growth of HCC cells in both in vitro and in vivo models. In conclusion, FASN is involved in the molecular pathogenesis of HCC, where it plays a pivotal role both in tumor onset and progression. Thus, targeted inhibition of FASN and related lipogenesis could be a potentially relevant treatment for human HCC. Introduction: Human Hepatocellular Carcinom