BACKGROUND: Glycogen storage disease (GSD) is a disease caused by excessive deposition of glycogen in tissues due to genetic disorders in glycogen metabolism. Glycogen storage disease type I (GSD-I) is also known as VonGeirk disease and glucose-6-phosphatase deficiency. This disease is inherited in an autosomal recessive manner, and both sexes can be affected. The main symptoms include hypoglycaemia, hepatomegaly, acidosis, hyperlipidaemia, hyperuricaemia, hyperlactataemia, coagulopathy and developmental delay.
METHODS: Here, we present the case of a 13-year-old female patient with GSD Ia complicated with multiple inflammatory hepatic adenomas. She presented to the hospital with hepatomegaly, hypoglycaemia, and epistaxis. By clinical manifestations and imaging and laboratory examinations, we suspected that the patient suffered from GSD I. Finally, the diagnosis was confirmed by liver pathology and whole-exome sequencing (WES). WES revealed a synonymous mutation, c.648 G > T (p.L216 = , NM_000151.4), in exon 5 and a frameshift mutation, c.262delG (p.Val88Phefs*14, NM_000151.4), in exon 2 of the G6PC gene. According to the pedigree analysis results of first-generation sequencing, heterozygous mutations of c.648 G > T and c.262delG were obtained from the patient\'s father and mother. Liver pathology revealed that the solid nodules were hepatocellular hyperplastic lesions, and immunohistochemical (IHC) results revealed positive expression of CD34 (incomplete vascularization), liver fatty acid binding protein (L-FABP) and C-reactive protein (CRP) in nodule hepatocytes and negative expression of β-catenin and glutamine synthetase (GS). These findings suggest multiple inflammatory hepatocellular adenomas. PAS-stained peripheral hepatocytes that were mostly digested by PAS-D were strongly positive. This patient was finally diagnosed with GSD-Ia complicated with multiple inflammatory hepatic adenomas, briefly treated with nutritional therapy after diagnosis and then underwent living-donor liver allotransplantation. After 14 months of follow-up, the patient recovered well, liver function and blood glucose levels remained normal, and no complications occurred.
CONCLUSIONS: The patient was diagnosed with GSD-Ia combined with multiple inflammatory hepatic adenomas and received liver transplant treatment. For childhood patients who present with hepatomegaly, growth retardation, and laboratory test abnormalities, including hypoglycaemia, hyperuricaemia, and hyperlipidaemia, a diagnosis of GSD should be considered. Gene sequencing and liver pathology play important roles in the diagnosis and typing of GSD.

To predict ductal carcinoma in situ with microinvasion (DCISMI) based on clinicopathologic, conventional breast magnetic resonance imaging (MRI), and dynamic contrast enhanced MRI (DCE-MRI) radiomics signatures in women with biopsy-confirmed ductal carcinoma in situ (DCIS).
Eighty-six women with eighty-seven biopsy-proven DCIS who underwent preoperative MRI and underwent surgery were retrospectively identified. Clinicopathologic, conventional MRI, DCE-MRI radiomics, combine (based on conventional MRI and DCE-MRI radiomics), traditional (based on clinicopathologic and conventional MRI) and mixed (based on clinicopathologic, conventional MRI and DCE-MRI radiomics) models were constructed by logistic regression (LR) with a 3-fold cross-validation, all evaluated using receiver operating characteristic (ROC) curve analysis. A clinical radiomics nomogram was then built by incorporating the Radiomics score, significant clinicopathologic and conventional MRI features of mixed model.
The area under the curves (AUCs) of clinicopathologic, conventional MRI, DCE-MRI radiomics, traditional, combine, and mixed model were 0.76 (95% confidence interval [CI] 0.59-0.94), 0.77 (95%CI 0.59-0.95), 0.74 (95%CI 0.55-0.93), 0.87 (95%CI 0.73-1), 0.8 (95%CI 0.63-0.96), and 0.93 (95%CI 0.84-1) in the validation cohort, respectively. The clinical radiomics nomogram based on mixed model showed higher AUCs than both clinicopathologic and DCE-MRI radiomics models in training/test (all P < 0.05) set and showed the greatest overall net benefit for upstaging according to decision curve analysis (DCA).
A nomogram constructed by combining clinicopathologic, conventional MRI features and DCE-MRI radiomics signatures may be useful in predicting DCISMI from DICS preoperatively.

OBJECTIVE: Tumor expression of programmed death-ligand 1 (PD-L1) is associated with evasion of immune response in several types of malignancies and such expression may render patients eligible for PD-L1 inhibitors. The use of immune checkpoint blockade therapy has been recently approved for the treatment of breast cancer. However, PD-L1 expression data are lacking among Jordanian breast cancer patients. In this study, the tumor PD-L1 expression was characterized in breast cancer patients to assess their eligibility for immune checkpoint blockade therapy. The study also aimed to explore the association between tumoral PD-L1 expression and the clinicopathologic characteristics and the prognostic factors in patients with breast cancer.
METHODS: Tissue samples were available from 153 female patients with primary invasive breast cancer. Immunohistochemistry was performed on paraffin-embedded tumor sections that were stained with a PD-L1 antibody. Expression of tumor PD-L1 was correlated with demographics, clinicopathologic characteristics, and prognosis.
RESULTS: The mean age at diagnosis was 54.2±12.8 years (median 52, interquartile range 45-65). The percentage of PD-L1-positive tumors was 26.1%. PD-L1 expression on tumor cells significantly and positively correlated with tumor size (rho=0.174, p=0.032). PD-L1 positivity was significantly associated with the grade of carcinoma (p=0.001), HER2-positivity (p=0.015), and lymphovascular invasion (p=0.036). PD-L1 intensity was significantly associated with tumor stage (p=0.046). No significant associations were observed for the PD-L1 expression status or intensity with patient menopausal status, hormone receptor expression, and molecular subtypes. PD-L1 expression significantly correlated with a worse prognosis of breast cancer patients at the time of diagnosis (rho=0.230, p=0.005).
CONCLUSIONS: Tumor PD-L1 expression was associated with advanced clinicopathologic features and worse prognosis in this cohort of Jordanian breast cancer patients. Future studies are needed to better understand the impact of PD-L1 blockade therapy on treatment outcomes in eligible breast cancer patients in Jordan.

BACKGROUND: Cardiac fibroma (CF) is a rare tumor that has not been widely reported. This study investigated the clinical findings, histologic features, and differential diagnosis of CF.
METHODS: A total of 12 CF cases were studied and reviewed using hematoxylin and eosin (H&E), special staining and immunohistochemical staining. The ALK gene was tested in 4 cases of cardiac fibroma with significant inflammatory cells. Clinicopathological data were retrospectively analyzed and followed up.
RESULTS: The cases occurred in six males and six females ranging in age from 0.5 to 55 years (median, 5 years). The tumors were grossly single and solid (1-17 cm; mean 5.6 cm). The clinical signs and symptoms depended largely on the location of the tumor. Microscopically, the CFs observed were composed of monomorphic spindle cells and abundant collagen. The spindle cells demonstrated little or no atypia. The histology of CFs in infants and young children showed some differences from those in adults. Infants and young children with fibromas exhibited cellular types with more inflammatory infiltration. All tumors expressed vimentin markers. Eleven of 12 cases (91.7%) were positive for SMA by immunohistochemistry. ALK immunostaining and ALK-FISH tests showed negative results. Follow-up information was available for all patients. The mean postoperative follow-up was at 3 years (range 2 months-8.8 years). All patients were alive with no evidence of disease.
CONCLUSIONS: Our study shows that CFs exhibit a wide morphological spectrum of soft tissue tumors with fibroblastic or myofibroblastic differentiation and/or components. Infants and younger pediatric patients with fibromas have tumors that are more hypercellular and more likely to be misdiagnosed with aggressive or malignant lesions than adults. Finally, the data indicate that CF exhibits benign behavior and that local resection is safe and effective.

UNASSIGNED: Dermatofibrosarcoma protuberance (DFSP) is the commonest, yet rare, dermal sarcoma globally. There are few reports in the literature of this neoplasm in Nigerians and indeed in sub-Saharan Africa. This study documents our institutional practice observation and compares it with those from other regions of the world.
UNASSIGNED: This study was a retrospective review of all cases of histologically diagnosed DFSP at the University College Hospital, Ibadan, Nigeria, spanning a period of 27 years (January 1989-December 2016). Data on patient age, gender, tumour location, size, tumour recurrence and metastasis status were obtained from clinical and surgical pathology archival files and records.
UNASSIGNED: Sixty-nine cases of DFSP were recorded over the period reviewed with a male-female ratio of 1.6:1. The mean age of the study population was 39.6 years. The youngest patient was 5-year old, while the oldest was 86 years and the modal age group was the 4th decade. The trunk was the commonest anatomic tumour location. Recurrences were seen in seven cases with recurrence interval ranging from 6 to 240 months. The correlation between tumour size and age was non-significant (r = -0.183; p = 0.182). There was fibrosarcoma-like transformation in three cases (4.3%) studied.
UNASSIGNED: Dermatofibrosarcoma protuberance is rare in our population and occurs more commonly in males and on the trunk. Recurrence can occur beyond the recommended follow-up period of 10 years.

Objective: To evaluate the prognostic significance of clinicopathological features in a large series of Chinese patients with chromophobe renal cell carcinoma (RCC). Materials and Methods: Patients with chromophobe RCC who were treated surgically for renal masses at Chinese PLA General Hospital from 2006 to 2015 were identified. Tissue slides were reviewed to verify diagnoses and collect clinicopathological variables. Cox proportional hazard regression models and the Kaplan-Meier method were performed to evaluate the significance of clinicopathological variables on survival outcomes. Results: A total of 209 patients with chromophobe RCC were enrolled in this study. There were only 13 cancer-specific events, which included 7 local recurrences and 6 metastases. The estimated 5-year and 10-year disease-free survival (DFS) rates were 92.4% and 83.1%, respectively. Univariate analysis indicated that tumor size, 2010 AJCC TNM stage, grade, sarcomatoid differentiation and urinary collecting system invasion were correlated with poor DFS. Multivariate analysis revealed that tumor size, 2010 AJCC TNM stage and grade were independent predictors of DFS. Conclusions: According to this long-term follow-up on a large number of Chinese patients, we found that chromophobe RCC was associated with a very low rate of cancer-specific events (6.2%) and has a better prognosis than clear cell RCC. Tumor size, 2010 AJCC TNM stage and grade were independent prognostic factors in Chinese patients with chromophobe RCC. The presence of these features in a nephrectomy specimen with chromophobe RCC warrants more active surveillance.

Breast carcinoma is a heterogeneous disease affected by patients\' ethnicity. Gene expression analysis identified several molecular subtypes, and similar subtyping has now been found to be feasible using immunohistochemistry. This study estimated the distribution of intrinsic breast cancer subtypes using estrogen receptor, progesterone receptor, human epidermal growth factor receptor 2 (Her2/neu), and cytokeratin 5/6 immunostaining in a cohort of 125 Egyptian women diagnosed as having invasive breast carcinoma. Associations with clinicopathologic variables and the prognostic markers Bcl-2 and Cyclin D1 were investigated and statistically analyzed. Population difference in breast cancer subtypes was detected, suggesting etiologic and genetic heterogeneity among demographic groups. As reported worldwide, most tumors were luminal A (39.2%), but basal-like and unclassified subtypes had higher proportions among our cohort (16.8% and 16%, respectively), particularly in premenopausal patients (P = .0001), in contrast to postmenopausal African Americans, premenopausal European Americans, and other populations. Her2-overexpressing subtype was the least common subtype (13.65%) among our patients, although it is more common in Asians. Basal-like and unclassified carcinomas were more frequently grade 3 neoplasms (P = .035). Lobular histology was distributed among luminal A, B and unclassified subtypes (P = .006). The highest frequency of nodal positivity was associated with Her2 overexpressing carcinomas (94.1%, P = .0001). Luminal and unclassified carcinomas more likely expressed Bcl-2 (P = .011) and Cyclin D1 (P = .0001), whereas basal and Her2 subtypes had the lowest expression levels. Immunohistochemistry-based subtyping can be helpful in separating breast carcinoma into subtypes that vary in distribution among different populations. These subtypes have distinct clinicopathologic features and diverse prognostication, which may imply different therapeutic options for each subtype.