Background Glycogen storage diseases (GSDs) with liver involvement are complex disorders with similar manifestations. Currently, the main diagnostic methods such as tissue diagnosis, either histopathology or enzyme assay, are invasive. Meanwhile, GSDs are diseases with significant genetic heterogeneity, and gene-sequencing methods can be more useful. This systematic review aims to review the literature to assess the value of massively parallel sequencing in the diagnosis of GSDs on patients with previously undiagnosed hepatic involvement. Methods Relevant studies identified in the MEDLINE/PubMed, EMBASE, Cochrane Library, Scopus, and Web of Science Core Collection databases up to July 2019 with no time and language restrictions. Publications were included in the review if they analyzed GSDs with hepatic involvement (GSD I, GSD III, GSD IV, GSD VI, GSD IX), using targeted gene sequencing (TGS) or exome sequencing (ES). Results Eleven studies were included in this systematic review. ES demonstrated a 93% diagnostic yield. These methods correctly distinguished all types of pathogenic variants. The diagnostic yield of the TGS method was around 79.7%. Conclusions According to our results, TGS analysis can be considered as the first-line diagnostic method with valuable results and ES can be used to diagnose complex cases of GSD with liver involvement. Overall, these molecular methods are considered as accurate diagnostic tools, which expedite correct diagnosis and treatment with significant cost-effectiveness by reducing unnecessary and inaccurate tests. PROSPERO registration CRD42020139931. Registered 8 January 2020.

BackgroundThe impact of de novo anti-HLA donor-specific alloantibodies (DSA) which develop after long-term liver transplantation (LT) remains controversial and unclear. The aim of this study was to investigate the role of de novo DSAs on the outcome in LT.MethodsWe did a systematic review and meta-analysis of observational studies published until Dec 31, 2019, that reported de novo DSA outcome data (≥1 year of follow-up) after liver transplant. A literature search in the MEDLINE/PubMed, EMBASE, Cochrane Library, Scopus and Web of Science Core Collection databases was performed.ResultsOf 5,325 studies identified, 15 fulfilled our inclusion criteria. The studies which reported 2016 liver transplant recipients with de novo DSAs showed an increased complication risk, i.e. graft loss and chronic rejection (OR 3.61; 95% CI 1.94–6.71, P < 0.001; I2 58.19%), and allograft rejection alone (OR 6.43; 95% CI: 3.17–13.04; P < 0.001; I2 49.77%); they were compared to patients without de novo DSAs. The association between de novo DSAs and overall outcome failure was consistent across all subgroups and sensitivity analysis.ConclusionsOur study suggested that de novo DSAs had a significant deleterious impact on the liver transplant risk of rejection. The routine detection of de novo DSAs may be beneficial as noninvasive biomarker-guided risk stratification.

Background:In western countries with high prevalence of colorectal cancers, colonic polyps are usually adenomatous. There are few studies from Iran regarding to the predominant type of polyps in colorectal area. Objectives: We conducted this retrospective study to evaluate the predominant colorectal polyps in our center as the largest referral center of the South region of Iran. Material and Methods: We retrospectively analyzed pathology reports of colonoscopies during five years (2005 -2011). Histologic reports and demographic findings were recorded and compared with published studies in the literatures of other countries from different geographic regions of the world. Results: During these years, 990 patients with colorectal polyps were refered to the center. The most common types of polyps were adenomatous (603), followed by hyperplastic (300), juvenile (80), inflammatory (5) and Peutz-Jeghers (2). The most common site of polyp was rectosigmoid. Discussion: The type and distribution of colorectal polyps in Iran is very similar to western countries.

Background Intraductal papillary mucinous neoplasm (IPMN) constitutes up to 20% of all pancreatic resections, and has been increasing in recent years. Histomorphological findings of IPMN are well established; however, there are not many published papers regarding the cytological findings of IPMN on fine needle aspiration (FNA) specimens. We review the cytomorphological features, molecular profile, imaging findings, and prognosis of IPMN. Methods The English literature was thoroughly searched with key phrases containing IPMN. Observations IPMN is a rare entity, affecting men and women equally and is usually diagnosed at the age of 60‐70 years. The characteristic imaging features include a cystic lesion with associated dilatation of the main or branch pancreatic duct, and atrophy of surrounding pancreatic parenchyma. Cytomorphological features of IPMN include papillary fragments of mucinous epithelium in a background of abundant thick extracellular mucin, a hallmark feature. IPMNs should be evaluated for high‐grade dysplasia, which manifests with nuclear atypia, nuclear moulding, prominent nucleoli, nuclear irregularity, and cellular crowding. Molecular profiling of IPMN along with carcinoembryonic antigen and amylase levels is useful in predicting malignancy or high‐grade dysplasia arising in IPMN. Overall, the prognosis of IPMN is excellent except in those cases with high‐grade dysplasia and malignant transformation. Postoperative surveillance is required for resected IPMNs. Conclusion IPMN requires a multidisciplinary approach for management. Cytomorphological findings of IPMN on FNA, in conjunction with tumour markers in pancreatic fluid cytology and imaging findings, are of paramount importance in clinical decision‐making for IPMN.

Background: Solitary fibrous tumor (SFT) is a fibroblastic tumor that has been originally reported as a pleural tumor but now has been defined as a tumor that can be seen everywhere in the human body. Histopathologically, many of the fibroblastic tumors can mimic SFT, and immunohistochemistry is necessary for differential diagnosis. Several markers have been used, and recently, STAT6 has been introduced as a diagnostic marker. No research study has been reported from Iran. Objectives: In this report, we are trying to introduce our experience about the clinicopathologic findings of 35 cases of SFT during the last 10 years from our center with an emphasis on the diagnostic role of STAT6 in this tumor. Patients and methods: During the last 10 years, we confirmed the diagnosis of 35 cases of SFT in the pathology archives of Shiraz University of Medical Sciences. These 35 cases were considered as cases. All the clinicopathologic findings were also extracted from the clinical charts of the patients. To evaluate the diagnostic role of STAT6, another 35 cases of spindle cell tumors were also extracted from the pathology archives as mimickers of SFT. STAT6 was stained in all of the 70 cases and controls. Results and discussion: Our experience showed that SFT is more common in middle-aged men with a wide age range, although it is very rare in children. It can be present in every location with a wide size range from less than 1 cm to more than 15 cm. The presence of abnormal staghorn vessels is one of the main diagnostic histopathologic characteristics. STAT6 showed a sensitivity and specificity of 91% and 86% in the diagnosis of SFT. Other markers such as CD99, CD34, and BCL2 have also been considered useful in the differential diagnosis of this tumor, although the diagnostic accuracy seems to be lower than STAT6. High mitosis, presence of necrosis, and atypia are important criteria for predicting malignant and aggressive behavior in SFT. Among 35 cases in our study, 17% showed malignant behavior as recurrent or metastatic tumors. Conclusion: Solitary fibrous tumor is a common soft tissue tumor that can be seen everywhere and needs careful histopathologic and immunohistochemical evaluation for the correct diagnosis and prediction of aggressive or benign behavior.

Cholangiocarcinoma (CCA) develops through multistep carcinogenesis. During the past decades, 2 precursors have been proved to evolve to CCA. The 2 main precursor lesions of CCA are biliary intraepithelial neoplasia and intraductal papillary neoplasm of the bile duct. It is an interesting and relatively novel entity for the hepatobiliary surgeons, radiologists, oncologists, and pathologists. It worth being familiar with these 2 entities for better communication between pathologists, oncologists, and surgeons to improve the treatment and follow-up of these lesions, which can definitely decrease their evolvement to CCA as an aggressive, poor prognostic, and life-threatening cancer. In this narrative review, I collected and discussed all published studies about these 2 precursor lesions of CCA including radiologic, clinical, and pathological manifestation.

Background: Routine screening colonoscopy is on the rise and pathologists have to deal with the ever larger numbers of excised colonic polyps. It is very important to optimize the patients’ individual treatment and further surveillance. Pathologists play a critical role in management, as most of the clinical decisions concerning colonic polyp management are based on pathologic findings. One of the most important clinical issues in colonic adenomas is the diagnosis of malignancy and reporting its different aspects by the pathologist. The histologic type and the extent of carcinoma within a malignant polyp have considerable impact on the decisions of gastroenterologists and surgeons for further management. Therefore, the most recent literature regarding the diagnosis and reporting of the different features of malignant polyps was reviewed. Data Acquisition: There is growing literature regarding the different pathologic features and reporting of malignant colonic polyps, and in this review, published articles that are listed on Google Scholar and Pub Med are discussed. Conclusion: Diagnosis of malignant colon polyp requires the presence of tumor cells that are penetrating beyond the muscular mucosa into submucosa (pT1). As well as establishing a diagnosis of malignant polyp, it is very important to report the size of the invasive component, the presence or absence of lymphovascular invasion, the degree of tumor differentiation and the distance of the carcinoma from the line of resection. Other important features that may be reported include: the presence or absence of tumor budding, the depth of tumor cell penetration into the submucosa, and results of immunohistochemistry for mismatch repair proteins and BRAF.

Objectives: Subcutaneous tissue is an uncommon site of metastasis. Overall it can be seen in 0.8-4% of the malignancies. Fine Needle Aspiration Cytology (FNAC) is a method for the diagnosis of subcutaneous metastasis and to exclude other differential diagnoses such as primary cutaneous tumors or inflammatory process. In this study we want to report our experience with Fine Needle Aspiration (FNA) of subcutaneous metastasis in 25 patients with known malignancy.Study design: During 3 years, among more than 10000 cytology cases, we had 25 patients with different types of malignancy who were referred with subcutaneous nodules. FNA was performed. Results:In these 25 patients, there were 15 males and 10 female patients (22-80 years of age). Most common malignancy was breast cancer and the most common site of metastasis was subcutaneous tissue of chest wall. FNAC was 100% accurate for the diagnosis of subcutaneous metastasis. There were no false positive and false negative cases. Discussion and conclusion: FNAC is an accurate, noninvasive and fast method for the diagnosis of subcutaneous metastasis in the patients with a known malignancy without any complication.