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: 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.

Renal involvement by Non-Hodgkin’s lymphoma (NHL) is very rare, and involvement of the kidney as the primary site of NHL (PRNHL) is much more uncommon. Gold standard for the diagnosis of PRNHL is histology and imaging modalities although helpful are not specific. Nephrectomy has been mostly recommended for low grade lymphomas, and for high grade PRNHLs, chemotherapy without nephrectomy has been recommended as the treatment of choice. This tumor is aggressive with poor prognosis. This poor prognosis is partly because of delayed diagnosis and partly because of unnecessary surgeries, so it should be kept in mind, especially in bilateral renal tumors with unusual imaging characteristics, to take a tissue biopsy before nephrectomy. In this review, we will discuss all the detailed aspects of clinical, pathologic, and imaging characteristics of 83 cases of PRNHL reported in the last 20 years in the English literature so far. For this purpose, all the published cases of the primary non-Hodgkin’s lymphoma of kidney were reviewed via a search in PubMed, Scopus, and Google Scholar, (1999–2019), using the keywords of “Primary renal lymphoma” and “Non-Hodgkin’s lymphoma and kidney,” “renal Non-Hodgkin’s lymphoma,” “renal lymphoma,” and “lymphoma and kidney.” There were 83 cases in the published English literature which were reviewed for this article. There was some missing information in some cases which has been recorded as “not reported.”