Clinicopathological and mutational characteristics of primary double mutant gastrointestinal stromal tumor: a single center study with review of the literature.

Aims: Primary double KIT/PDGFRA mutations are very rare in gastrointestinal stromal tumours (GISTs) but have not been comprehensively studied to date. In the present study, we investigated the clinicopathologic and genetic features of eight cases of primary double-mutant GISTs, and we reviewed the literature.

Methods And Results: The tumours occurred in six males and two females (age range 57-83 years) and involved the small intestine (n = 4), stomach (n = 2), rectum (n = 1) and retroperitoneum (n = 1).

NTRK-rearranged spindle cell neoplasms: a clinicopathological and molecular study of 13 cases with peculiar characteristics at one of the largest institutions in China.

NTRK-rearranged spindle cell neoplasms (NTRK-RSCNs) represent an emerging group of rare tumours defined using molecular means. To the best of our knowledge, there have been no large series of reports about this tumour in the Chinese population in English full-text articles. Herein, we present 13 NTRK-RSCNs with peculiar characteristics.

Abnormal decrement on high-frequency repetitive nerve stimulation in congenital myasthenic syndrome with GFPT1 mutations and review of literature.

Objectives: Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of inherited disorders characterized by neuromuscular junction defects. Mutations in GFPT1 have been shown to underlie CMS. An increasing number of patients with CMS due to mutations in GFPT1 have been reported.

Primary intrathoracic liposarcomas: A clinicopathologic and molecular study of 43 cases in one of the largest medical centers of China.

Introduction: Primary intrathoracic liposarcoma is extremely rare, and most published series lack genetic analyses. The aim of our study is to better understand the clinicopathologic and genetic features of these rare lesions.

Materials And Methods: Forty-three primary intrathoracic liposarcomas were identified and most cases were analyzed by systematic genetic studies, including fluorescence hybridization (FISH), whole-exome sequencing (WES), and Sanger sequencing.

Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China.

Oculopharyngodistal myopathy (OPDM) is a rare adult-onset hereditary muscular disease characterized by slowly progressive ptosis, external ophthalmoplegia and weakness of the facial, pharyngeal and distal limb muscles. Recently, CGG repeat expansion mutations in three genes, LRP12, GIPC1 and NOTCH2NLC, have been identified as causative factors for OPDM. Here, we report clinicopathologically typical familial OPDM patients from southwestern China.

Case Report: Early Distant Metastatic Inflammatory Myofibroblastic Tumor Harboring Fusion Gene: Study of Two Typical Cases and Review of Literature.

Inflammatory myofibroblastic tumor (IMT) is a distinctive neoplasm that frequently arises in the lung and accounts for ~1% of lung tumors. Distant metastatic IMT is extremely rare and has been poorly investigated. This analysis was specifically performed to explore the clinicopathological and genetic features of early distant metastatic IMT.

Gastrointestinal stromal tumors: associations between contrast-enhanced CT images and KIT exon 11 gene mutation.

Background: Mutation screening for gastrointestinal stromal tumor (GIST) is crucial and the c kit gene (KIT) exon 11 mutation is the most common type. This study aimed to explore the associations between GIST with KIT exon 11 mutation and contrast-enhanced computed tomography (CT) images.

Methods: Pathologically proven GISTs with definitive genotype testing results in our hospital were retrospectively included.

Preoperative prediction of gastrointestinal stromal tumors with high Ki-67 proliferation index based on CT features.

Background: To determine whether preoperative computed tomography (CT) features can be used for the prediction of gastrointestinal stromal tumors (GISTs) with a high Ki-67 proliferation index (Ki-67 PI).

Methods: A total of 198 patients with surgically and pathologically proven GISTs were retrospectively included. All GISTs were divided into a low Ki-67 PI group (<10%) and a high Ki-67 PI group (≥10%).

Expression of FRS2 in atypical lipomatous tumor/well-differentiated liposarcoma and dedifferentiated liposarcoma: an immunohistochemical analysis of 182 cases with genetic data.

Background: The fibroblast growth factor receptor substrate 2 (FRS2) gene is located close to MDM2 and CDK4 within the 12q13-15 chromosomal region. FRS2 gene was recently found to be consistently amplified in atypical lipomatous tumor (ALT)/well-differentiated liposarcoma (WDL) and dedifferentiated liposarcoma (DDL), suggesting the detection of FRS2 amplification could be a diagnostic tool for ALT/WDL/DDLs. However, the expression of FRS2 protein and diagnostic value of FRS2 immunohistochemistry (IHC) has not been evaluated in a large cohort of ALT/WDL/DDLs.

Unusual split green-orange signals in USP6 fluorescence in situ hybridization in a malignant peripheral nerve sheath tumor with a novel NF1-SCIMP fusion: a potential diagnostic pitfall.

Deletion of the neurofibromatosis 1 (NF1) gene is common, but NF1 rearrangement or fusion has rarely been reported in peripheral nerve sheath tumors. Here, we present a case of malignant peripheral nerve sheath tumor (MPNST) in a 36-year-old Chinese female. Histologically, the lesion was composed of spindle cells with moderate atypia, immature bone, and atypical cartilage elements.

Extremity Gangrene Caused by HBV-Related Cryoglobulinemia Vasculitis in a Patient with Diabetes - A Case Report.

We presented a case of hepatitis B virus (HBV)-related type III cryoglobulinemia vasculitis (CryoVas) characterized by extremity gangrene in a patient with diabetes. The 60-year-old female had a 10-year history of poorly controlled type 2 diabetes mellitus. She complained of sudden onset pain and swelling of toes which quickly progressed to gangrene, with fingers becoming pain and dark violet.

Liposarcoma in children and young adults: a clinicopathologic and molecular study of 23 cases in one of the largest institutions of China.

The incidence of pediatric liposarcoma is rare and most published cases lack systematic genetic analyses. We present clinicopathologic and genetic features of 23 liposarcomas aged <22 years. The study cohort comprised 10 males and 13 females (M:F=1:1.

Atypical nodular fasciitis with a novel PAFAH1B1-USP6 fusion in a 22-month-old boy.

Nodular fasciitis (NF) rarely occurs in infants aged < 2 years although cranial fasciitis develops predominantly in this age group. Histologically, NF may present high cellularity and brisk mitoses, but atypical forms are generally absent. Here, we report a NF in a 22-month-old Chinese boy.

High expression of microRNA20b is associated with malignant clinicopathological features and poor prognosis in breast phyllodes tumor.

Background: microRNAs, which expound the transcriptional regulation of gene expression, have been validated as prognostic markers in many tumors. The deregulated expression of microRNAs has been shown to aid classification of tumors and predict outcome in many tumors including breast PTs. The aim of our study is to investigate the clinical significance and prognostic value of microRNAs in PTs to identify a biomarker which has the potential for predicting prognosis and target therapy.

Correction to: Novel CTNNB1-USP6 fusion in intravascular fasciitis of the large vein identified by next-generation sequencing.

The original version of this article, unfortunately, contained errors.

Novel CTNNB1-USP6 fusion in intravascular fasciitis of the large vein identified by next-generation sequencing.

Intravascular fasciitis (IVF) is considered a rare variant of nodular fasciitis, which often involves small- and medium-sized blood vessels. Approximately 43 cases of IVF have been reported in the English literature to date. Here, we report an IVF case arising from the common iliac vein of the pelvic cavity in a 19-year-old Chinese man.

Low-grade fibromyxoid sarcoma: a clinicopathologic and molecular study of 10 genetically confirmed cases.

Low-grade fibromyxoid sarcoma (LGFMS) is a rare low-grade malignant fibroblastic tumor, harboring a characteristic or gene fusion. The authors presented 10 genetically confirmed cases in a Chinese population. To the best of our knowledge, the present series consists of the most genetically confirmed cases from a Chinese medical center in English literature.

Overexpression of CD55 correlates with tumor progression and poor prognosis in gastric stromal tumors.

Accumulating evidences have demonstrated that CD55 can protect cells from complement-mediated attack, and is involved in tumor dedifferentiation, migration, invasiveness, and metastasis. However, the role of CD55 in gastrointestinal stromal tumors (GISTs) has not been investigated. Our study aimed to analyze the expression of CD55 in gastric GISTs and its correlations with clinicopathologic characteristics and prognosis.

Diffuse ileal ganglioneuromatosis mimicking a gastrointestinal stromal tumor: A case report.

Rationale: Intestinal ganglioneuromatosis (IGNM) is a rare disease, defined by an abnormal proliferation of ganglion cells, nerve fibers and Schwann cells in the enteric nerve system.

Patient Concerns: A 54-year-old woman presented with a one-year history of recurrent episodes of hypogastric pain, with vomiting, nausea, melena, and weight loss of 10 kg in recent 5 months.

Diagnoses: The patient was diagnosed as a diffuse IGNM by pathological examination.

Vas deferens sonographic appearances of tuberculosis lesions of 19 cases of male genital systemic tuberculosis.

To investigate the sonographic findings of the vas deferens in male genital tuberculosis.The ultrasonographic findings of the vas deferens of 19 cases of genital tuberculosis were retrospectively analyzed.According to the pathological and ultrasound findings, the ultrasonographic appearances of the vas deferens tuberculosis could be divided into 4 groups, 1 of normal sonograms, 3 of abnormal sonograms.

Tenascin-C expression is significantly associated with the progression and prognosis in gastric GISTs.

Tenascin-C (TNC), an extracellular matrix glycoprotein, has been implicated in progression of various types of cancer. However, few reports exist on TNC expression in gastrointestinal stromal tumors (GISTs). We here attempted to investigate the expression pattern and prognostic significance of TNC in gastric GISTs.

Adverse events risk associated with regorafenib in the treatment of advanced solid tumors: meta-analysis of randomized controlled trials.

Background: Regorafenib is a novel multikinase inhibitor (MKI) approved for use in the treatment of metastatic colorectal cancer (CRC), treatment-refractory gastrointestinal stromal tumors, and other solid tumor malignancies. However, the adverse events (AEs) associated with regorafenib have not been systematically investigated. Hence, we performed a meta-analysis to identify AEs associated with regorafenib in patients with advanced solid tumors.

Whole exome and target sequencing identifies MAP2K5 as novel susceptibility gene for familial non-medullary thyroid carcinoma.

Although the genotype-phenotype for familial medullary thyroid carcinoma (FMTC) is well studied, only few low susceptibility risk loci were identified for familial non-medullary thyroid carcinoma (FNMTC). The aim of this study is to screen and identify high-penetrate genes for FNMTC. A total of 34 families with more than two first-degree relatives diagnosed as papillary thyroid cancer without other familial syndrome were recruited.