Intraoperative Sentinel Lymph Node Imprint Cytology Diagnosis in Breast Cancer Patients by General Surgical Pathologists: A Single-Institution Experience of 4327 Cases.

Context: Sentinel lymph node (SLN) biopsy is the standard of care for breast cancer (BC) patient staging. The axillary node status can be evaluated by frozen section (FS) or imprint cytology (IC). Despite the major disadvantages of tissue loss and freezing artifact in FS, many pathologists consider SLN IC a more difficult task requiring special expertise and prefer FS to IC.

A Zigzag Flap for Correcting a Nail Deformity Caused by Subungual Schwannoma.

Subungual schwannoma is quite rare and often causes nail deformity and difficulty in wearing shoes. Complete tumor excision is the treatment of choice, and we advocate that restoring the nail appearance should be considered at the same time. We present the case of 43-year-old man with a big toe subungual schwannoma.

Clinical Diagnosis of Gastrointestinal Stromal Tumor (GIST): From the Molecular Genetic Point of View.

Gastrointestinal stromal tumors (GISTs) originating from the interstitial cells of Cajal are mesenchymal tumors of the gastrointestinal tract and have been found to harbor mutations and KIT (CD117) expression since 1998. Later, mutations, alterations, and other drive mutations were identified in GISTs. In addition, more and more protein markers such as DOG1, PKCθ were found to be expressed in GISTs which might help clinicians diagnose CD117-negative GISTs.

D1359Y mutation in a patient with gastric polyposis and cancer susceptibility: A case report and review of literature.

Gastric polyposis is a rare disease. Not all polyps progress to cancer. Monoallelic mutation in Fanconi anemia (FA) genes, unlike biallelic gene mutations that causes typical FA phenotype, can increase risks of cancers in a sporadic manner.

Asian Consensus Guidelines for the Diagnosis and Management of Gastrointestinal Stromal Tumor.

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors originating in the gastrointestinal tract. With the introduction of molecular-targeted therapy for GISTs which has yielded remarkable outcomes, these tumors have become a model of multidisciplinary oncological treatment. Although Western clinical guidelines are available for GISTs, such as those published by the National Comprehensive Cancer Network (NCCN) and the European Society of Medical Oncology (ESMO), the clinical situations in Asian countries are different from those in Western countries in terms of diagnostic methods, surgical approach, and availability of new targeted agents.

Loss of GDF10/BMP3b as a prognostic marker collaborates with TGFBR3 to enhance chemotherapy resistance and epithelial-mesenchymal transition in oral squamous cell carcinoma.

Growth differentiation factor-10 (GDF10), commonly referred as BMP3b, is a member of the transforming growth factor-β (TGF-β) superfamily. GDF10/BMP3b has been considered as a tumor suppressor, however, little is known about the molecular mechanism of its roles in tumor suppression in oral cancer. Clinical significance of GDF10 downregulation in oral squamous cell carcinoma (OSCC) was evaluated using three independent cohorts of OSCC patients.

Primary high-grade salivary-type duct carcinoma of the lung: a case report.

Primary salivary gland-type lung cancers are a rare group of tumors. When they do occur, the most common type is adenoid cystic carcinoma, followed by mucoepidermoid carcinoma. Primary high-grade salivary-type duct carcinoma (HGSDC) arising in the lung has not been described.

Upregulated hPuf-A promotes breast cancer tumorigenesis.

hPuf-A is a member of RNA-binding PUF family that regulates mRNA translation. Redistribution of hPuf-A from the nucleolus to the nucleoplasm upon genotoxic stress modulates the poly(ADP-ribosyl)ation activity of PARP-1. Here, we report a novel function of hPuf-A involved in promoting breast cancer progression.

Hemolytic uremic syndrome caused by enteroviral infection.

A 4-year-old boy presented with enteroviral infection complicated with atypical hemolytic uremic syndrome (aHUS). Enterovirus RNA was detected by reverse transcription polymerase chain reaction (RT-PCR) of both blood and kidney biopsy specimens. A survey of the complement system did not reveal a specific complement defect.

Effective salvage therapy of imatinib-resistant gastrointestinal stromal tumor with combination of imatinib and pegylated liposomal doxorubicin.

Here we presented a 60-year-old Taiwanese man with advanced gastrointestinal stromal tumor. Disease progression was noted during imatinib treatment. Surgical resection was done and mutation analysis of KIT gene in all the resected tumors revealed deletion mutations of codons 558-565 in exon 11, whereas a missense mutation was also identified at codon 822 in exon 17 in one resected tumor.

Clinical outcome and pathological features associated with NRAS mutation in cutaneous melanoma.

The effect of NRAS mutations on the pathological features and clinical outcomes in patients with cutaneous melanoma was compared with that of tumors containing BRAF(V600E) mutations and tumors wild type for both (WT). Clinical outcome data were obtained from a prospective cohort of 249 patients. Mutations involving NRAS and BRAF(V600E) were detected by PCR and were sequence verified.

Recurrent sebaceous gland carcinoma of eyelid previously diagnosed as basal cell carcinoma: case report.

Sebaceous gland carcinoma (SGC) of the eyelid is a highly malignant neoplasm that arises from the meibomian glands, glands of Zeis, and sebaceous glands of the skin. The characteristics of this disease are high recurrence rate, significant metastatic potential, and notable mortality rate, which are quite different from basal cell carcinoma (BCC). We report the case of a 37-year-old woman with the history of left lower eyelid BCC (diagnosed 9 years ago), who had left parotid lymph nodes metastases and local recurrence twice.

p-Cresyl sulphate and indoxyl sulphate predict progression of chronic kidney disease.

Background: Indoxyl sulphate (IS) and p-cresyl sulphate (PCS) are uraemic toxins that have similar protein binding, dialytic clearance and proinflammatory features. However, only a few prospective studies have evaluated possible associations between these two retained solutes and renal disease progression in chronic kidney disease (CKD) patients.

Methods: This prospective observational study evaluated independent associations between serum total IS and PCS with renal progression in a selected cohort of patients having different stages of CKD.

Prediction of KIT mutation in gastrointestinal stromal tumors by the immunoprofile of the tumor cells.

Background/purpose: Human KIT protooncogene is the cellular homolog of v-kit from the Hardy-Zuckerman 4 feline sarcoma virus, and encodes a 145-kDa type III tyrosine kinase growth factor receptor that is often mutated in gastrointestinal stromal tumors (GIST). Standardized mutation analysis is not available in many countries; therefore, we aimed to determine if the presence of KIT mutation in GIST can be predicted by the immunoprofile of the tumor cells.

Methods: One hundred and forty-nine GIST were subjected to mutation analysis for KIT and immunohistochemical analysis for the expression of CD117, CD34, alpha-smooth muscle actin (SMA), and S100 protein.

Pathology reporting of neuroendocrine tumors: application of the Delphic consensus process to the development of a minimum pathology data set.

Epithelial neuroendocrine tumors (NETs) have been the subject of much debate regarding their optimal classification. Although multiple systems of nomenclature, grading, and staging have been proposed, none has achieved universal acceptance. To help define the underlying common features of these classification systems and to identify the minimal pathology data that should be reported to ensure consistent clinical management and reproducibility of data from therapeutic trials, a multidisciplinary team of physicians interested in NETs was assembled.

Prognostic factors in desmoid-type fibromatosis: a clinicopathological and immunohistochemical analysis of 46 cases.

Aims: To determine risk factors for recurrence of desmoid-type fibromatosis (aggressive fibromatosis).

Methods: Forty-six cases of desmoid-type fibromatosis in Taiwanese patients were analysed for an association between tumour recurrence and clinical features, pathology, and the presence of p53 protein and beta-catenin on immunohistochemical staining.

Results: Six (13%) of 46 patients developed recurrence after surgical resection.

Clinicopathologic significance of leptin and leptin receptor expressions in papillary thyroid carcinoma.

Background: Epidemiologic studies have shown that obesity is associated with an increased risk of thyroid cancer. Leptin, an adipocyte-derived cytokine, can act as a growth factor on certain normal and transformed cells. Aberrant expression of leptin or leptin receptor has been detected in some types of cancer.

Lafora disease and congenital generalized lipodystrophy: a case report.

We report a patient with congenital generalized lipodystrophy who had suffered from seizures, myoclonus, ataxia and cognitive decline since late childhood. Lafora disease was diagnosed based on skin biopsy results, which revealed pathognomonic Lafora bodies. The results of genetic analysis for mutations in EPM2A and EPM2B genes were negative.

A 12 Mb deletion of 6p24.1-->pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys.

We report an 18-gestational-week fetus with oligohydramnios, orofacial clefting, bilateral multicystic kidneys and the Dandy-Walker malformation. Characteristic craniofacial features include a turricephalic prominent forehead, hypertelorism, low-set ears, a flat nasal bridge, mid-face hypoplasia, bilateral cleft lip and palate, and a thick nuchal fold. Array-comparative genomic hybridization (CGH) analysis demonstrated a 12Mb deletion of 6p24.

PIK3CA mutation occurs in nasopharyngeal carcinoma but does not significantly influence the disease-specific survival.

This study was aimed to test whether PIK3CA, BRAF and RAS are mutated in nasopharyngeal carcinomas (NPCs) and, if so, to further determine whether such mutations affect patients' survival. For this purpose, a total of 73 NPCs were subjected to mutational analyses for PIK3CA (exons 4, 7, 9, and 20), BRAF (codon 600), and RAS (codons 12, 13 and 61). Clinicopathological characteristics were correlated to the mutation data.