Vito Emanuele Catania

Hepatocellular carcinoma and the risk of occupational exposure.

Hepatocellular carcinoma (HCC) is the most common type of liver cancer. The main risk factors for HCC are alcoholism, hepatitis B virus, hepatitis C virus, nonalcoholic steatohepatitis, obesity, type 2 diabetes, cirrhosis, aflatoxin, hemochromatosis, Wilsons disease and hemophilia. Occupational exposure to chemicals is another risk factor for HCC. Often the relationship between occupational risk and HCC is unclear and the reports are fragmented and inconsistent. This review aims to summarize the current knowledge regarding the association of infective and non-infective occupational risk exposure and HCC in order to encourage further research and draw attention to this global occupational public health problem.

Reduction of cardiovascular risk in subjects with high lipoprotein (a) levels

Lipoprotein (a) (Lp (a)) is a plasma lipoprotein consisting of a cholesterol rich LDL particle with one molecule of apolipoprotein B100 and one protein apolipoprotein (a) [apo(a)].

Tumor lysis syndrome in an extraskeletal osteosarcoma: a case report and review of the literature

BackgroundThis case report describes a spontaneous tumor lysis syndrome due to a rare solid tumor.Case presentationA 65-year-old white woman had tumor lysis syndrome, which represent a dangerous oncological emergency. This syndrome occurs usually with a hematological tumor, but in this case our patient had a solid tumor, which was a rare extraskeletal osteosarcoma, localized in her pelvic region. She also had lung metastases and bilateral hydronephrosis.After spontaneous tumor lysis syndrome, she had acute renal insufficiency, which was treated with hemodialysis and successively with rasburicase, Kayexalate (sodium polystyrene sulfonate), and febuxostat.ConclusionTumor lysis syndrome represents an oncological emergency, which must be suspected and treated as soon as possible.

Anorectal mucosal melanoma

Anorectal melanoma is an uncommon and aggressive mucosal melanocytic malignancy. Due to its rarity, the pre-operative diagnosis remains difficult. The first symptoms are non-specific such as anal bleeding, anal mass or pain. Although anorectal melanoma carries a poor prognosis; optimal therapeutics strategies are unclear. Surgical resection remains the mainstay of treatment. The optimal surgical procedure for primary tumours is controversial and can vary from wide local excision or endoscopic mucosal resection (EMR) to an abdomino-perineal resection. A high degree of uncertainly exists regarding the benefit of radiation therapy or chemotherapy. The treatment of advanced melanoma is evolving rapidly with better understanding of the disease biology and immunology. Considerable effort has been devoted to the identification of molecular determinants of response to target therapies and immunotherapy.

Carcinoembryonic Antigen Serum Levels in Nonmelanoma Skin Cancer

Background: Carcinoembryonic antigen (CEA) is a glycoprotein, which is present in the foetal colon, some benign conditions and different malignancies, particularly in colon adenocarcinoma. We focused this study on non-melanoma skin cancer (NMSC). NMSC is a common malignancy and it is an important source of morbidity and death in the world. In this study we evaluated whether CEA level increases in NMSC. Patients and Methods: A total of 566 patients with non-melanoma skin cancer (NMSC) were enrolled; 286 patients with NMSC showed CEA levels above normal values, and 280 showed CEA levels below normal values. Patients with high levels of CEA underwent abdominal ultrasound, gastro endoscopy, colonoscopy, and abdominal CT scans. Results: We studied 566 patients, 286 were positive to CEA and 280 were negative. Of the 286 patients positive to CEA, 132 had basal cell carcinoma (64 patients had an associated cancer) and 154 had squamous cell carcinoma (75 patients were affected by cancer). Of the 280 patients negative to CEA, 130 had basal cell carcinoma (12 were associated with cancer), and 150 had squamous cell carcinoma (18 were associated with cancer). The mean age of the 566 case control subjects were 65–81 years. Of the 10 subjects that were the positive control for CEA, two had cancer. Of the 556 subjects that were the negative control for CEA, three had cancer. Conclusions: In patients that present high serum levels of CEA, we give attention to adenocarcinoma tumour first. The pattern of association may be attributable to bias because the group with NMSC were frequently evaluated than those with no history of NMSC. Our results showed that out of 286 patients that were CEA-positive, 139 had cancer, and of the 280 that were CEA-negative, 30 had cancer. Therefore, 20% of patients do not follow the trend. Other markers should be investigated.

Molecular analysis of the APC gene in Sicilian patients with familial adenomatous polyposis (F.A.P.)

Familial adenomatous polyposis (FAP) is an autosomal dominant inherited syndrome, caused by germline mutations in the adenomatous polyposis coli (APC) suppressor gene. Patients with colorectal polyps are more likely to develop a malignant condition with poor prognosis. Typical FAP is characterized by hundreds to thousands of colorectal adenomatous polyps and by several extra-colonic manifestations; an attenuated form of polyposis (AFAP), presenting less than 100 adenomas and later onset, has been reported. In this study we have examined five Sicilian families affected by FAP syndrome, in order to provide predictive genetic testing for the affected families, as well as to contribute to mutation catalog enrichment. We have detected different APC mutations in these five pedigrees, confirming the remarkable heterogeneity of the mutational spectrum in FAP.

D-dimer plasmatic levels as a marker for diagnosis and prognosis of hepatocellular carcinoma patients with portal vein thrombosis

Purpose Portal vein thrombosis (PVT) is one of the severe complications of hepatocellular carcinoma (HCC). PVT deteriorates the liver, and its dysfunction increases the risk of bleeding, influencing the prognosis of patients with liver cirrhosis and HCC. The aim of our study was to investigate whether D-dimer testing could be a sensitive marker for the diagnosis and prognosis of HCC patients with PVT. Patients and methods Between June 2010 and December 2015, 118 HCC patients were admitted to Cannizzaro Hospital, Catania, and 50 controls were recruited from their relatives for health examinations. All enrolled patients were diagnosed and pathologically confirmed as having HCC. D-dimer was measured with an enzyme-linked immunosorbent assay using 2 monoclonal antibodies against nonoverlapping determinants of D-dimer. Results D-dimer levels in HCC patients with PVT were significantly higher vs HCC patients without PVT, P<0.002, and vs controls, P<0.001. Conclusion Plasma D-dimer is a sensitive marker of fibrin turnover and allows for the recognition of activated coagulation which may be manifested in HCC with PVT.

Iatrogenic nerve lesion following laparoscopic surgery. A case report

Background Peripheral neuropathy after surgical treatment is an under recognized potential untoward event. Pelvic surgery may be associated with nerve lesions by essentially three main mechanisms: transection, entrapment and pressure-stretching; the latter is the modality most frequently linked to patients positioning on the operating room table. Presentation of the case A 25 years old woman, after undergoing a laparoscopic gynaecologic procedure lasted >3 hours, on postoperative day one presented with numbness over her lateral right leg and dorsum of the foot, right foot drop and gait instability due to compression-stretching of the right superficial peroneal nerve. Discussion Patients diagnostic work up, treatment and outcome are reported and measures on how to prevent the occurrence of such type of lesion are outlined together with the importance of an early postoperative diagnosis in order to avoid permanent nerve damage. Conclusion Such lesions are sometimes so unexpected that delayed diagnosis leads to damages which are difficult or impossible to repair. Primary prevention plays a key role and it is realized by adhering to specific protocols. In the occurrence of the lesion a prompt diagnosis is highly recommendable and a comprehensive therapeutic plan is necessary to correctly address the specific pathology.

A painful nodule on the leg: a quiz. Diagnosis: Low-grade cutaneous pilar leiomyosarcoma.

Acta Derm Venereol 95

Molecular screening in Sicilian families with hereditary non-poliposis colorectal cancer (H.N.P.C.C.) syndrome: Identification of a novel mutation in MSH2 gene

HNPCC is an autosomal inherited cancer syndrome characterized by germinal and somatic mutations of DNA mismatch repair (MMR) genes. The inherited mutation in one allele together with an acquired defect in the other allele of an MMR gene leads to accelerate tumor progression. In this study we analyzed a cohort of 11 subjects belonging to four Sicilian families with HNPCC suspected by molecular analysis of coding regions of hMSH2 (NC_000002) and hMLH1 (NC_000003) genes. Molecular analysis has detected the presence of two mutations in gene MSH2 and one mutation in MHL1 gene. In addition, we found a novel mutation consisting in a G deletion at 914 codon of the exon 16 in the MSH2 gene. This deletion leads to a stop codon due to a frame-shift, resulting in a truncated protein. We extended genetic analysis to the other family members and the same mutation was detected in three sisters and in one of the two healthy daughters. This mutation is correlated with clinical findings revealed in genealogic tree and it represents a novel mutation responsible of HNPCC.