Association of estrogen receptor, progesterone receptor and HER2 following neoadjuvant systemic treatment in breast cancer patients undergoing surgery.

AIMS: The aim of this study was to analyze the association between the status of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor-2 (HER2) in breast cancer with neoadjuvant therapy by using tissue biopsy and surgical specimens. METHODS: This study included 78 patients with breast cancer, who presented to our hospital between June 1999 and June 2011, and were treated with neoadjuvant therapy and subsequent mastectomy or partial mastectomy. All clinicopathological data regarding pre-neoadjuvant biopsy and definitive surgical specimens were reviewed for accuracy. The status of ER, PR, and HER2 was determined by immunohistochemistry. RESULTS: Paired samples from 78 women (mean age 51.4 ± 11.7 years) were successfully analyzed. A switch in the status of ER was identified in 16 patients (20 %); PR, in 18 (23 %); and HER2, in 27 (35 %). There were no significant differences in the status of ER, PR, and HER2 between the primary tumor and the resected tumor after neoadjuvant therapy. Neoadjuvant therapy does not significantly influence the status of the steroid hormone receptors and the HER2 level in our study. CONCLUSIONS: Initial biopsy may be reliable for determining the appropriate adjuvant therapy, but final pathology are still needed to evaluate the prognosis and provided the alternative treatment when tumor recurrence. Further prospective study is needed to optimize the care available for breast cancer patients.

Metastatic Lung Cancer Presenting as Thoracic Empyema in an Old Patient.

An 83-year old male presented to the emergency department with productive cough and acute shortness of breath. Imaging, biochemical and microbiological studies of the pleural fluid indicated empyema. After antibiotic treatment and tube drainage, symptoms of the patient persisted and he received thoracoscopic decortication. His condition improved gradually, but histopathological examination showed metastatic adenocarcinoma of the lung. Clinicians are alerted to the possible association of malignant tumours and empyema in older patients.

Thymoma associated with myasthenia gravis and Sjögren syndrome / Timoma asociado con miastenia grave y síndrome de Sjögren

Thymoma is the most common neoplasm of the anterior mediastinum but thymoma with Sjögren syndrome (SS) is rare. Sjögren syndrome is a systemic autoimmune inflammatory disorder. It is characterized by lymphocytemediated destruction of exocrine glands, which leads to absent glandular secretion. Here, we present the case of a 63yearold man with thymoma and concurrent myasthenia gravis and SS, who achieved remission after thymectomy.

El timoma es la neoplasia más frecuente del mediastino anterior, pero un timoma acompañado del síndrome de Sjögren (SS) constituye una ocurrencia rara. El síndrome de Sjögren es un trastorno inflamatorio autoinmune sistémico. Se caracteriza por la destrucción - mediada por linfocitos - de las glándulas exocrinas, lo cual conduce a la ausencia de secreción glandular. Aquí presentamos el caso de un hombre de 63 años de edad con timoma, y miastenia gravis y SS concurrentes, que logró la remisión después de una timectomía.

Signalling pathway of isophorone diisocyanate-responsive interleukin-8 in airway smooth muscle cells.

This study is the first to analyse the soluble factors secreted by the bronchial epithelium after exposure to isophorone diisocyanate (IPDI) that are responsible for increasing migration and proliferation of primary normal human bronchial smooth muscle cells (BSMCs). We treated immortalised, nontumorigenic human bronchial epithelial cells (cell line BEAS-2B) and primary normal human bronchial epithelial cells (HBEC) with IPDI, and then collected the conditioned culture media (IPDI-BEAS-2B-CM and IPDI-HBEC-CM, respectively), which was added to BSMCs. Exposure of BEAS-2B cells and HBECs to IPDI increased interleukin (IL)-8 production. Culture of BSMCs with IPDI-BEAS-2B-CM and IPDI-HBEC-CM increased BSMC proliferation and migration, which are major features in asthma-related airway remodelling. Induction of BSMC proliferation and migration by IPDI-BEAS-2B-CM and IPDI-HBEC-CM was associated with increased focal adhesion kinase (FAK), Src, extracellular signal-regulated kinase (ERK)1/2 and AKT activation. Blocking FAK with a specific inhibitor significantly decreased BSMC migration and proliferation by inhibiting ERK1/2 activation. FAK and ERK1/2 inhibitor also decreased IPDI-BEAS-2B-CM-, IPDI-HBEC-CM- and recombinant human IL-8-mediated BSMC proliferation and migration, whereas blocking Rnd3 using small interfering RNA failed to affect BSMC proliferation, suggesting that Rnd3 was only involved in the regulation of BSMC migration. Our study suggests that inhibition of IL-8 or IL-8-mediated FAK/ERK/Rnd3 signalling is an attractive therapeutic target for IPDI-mediated asthma.

A notable accessory screening program for detection of cervical intraepithelial neoplasia.

OBJECTIVE: Papanicolaou (Pap) smear test is implemented to detect cervical intraepithelial neoplasia (CIN) in Taiwan. However, the utility of that has limitations. High-risk human papillomavirus (HR-HPV) is an important risk factor in development of cervical cancer. In this study, we estimate the utility of HR-HPV testing in the screening of CIN. METHODS: Firstly, 726 subjects were recruited and willing to prove cervical exfoliated epithelial cells for Pap smear screening and HR-HPV DNA testing. Subsequently, 205 of the eligible subjects with greater than or equal to CIN1 of Pap smear results were asked to perform histologic diagnosis that served as a gold standard for the estimation of the effects of both Pap smear and HR-HPV testing. RESULTS: The histology is significantly associated with HR-HPV infection, as well as significantly highly correlated with the individuals who have both Pap smear greater than or equal to CIN1 and positive HR-HPV infection but not significantly correlated with the individuals who only have Pap smear greater than or equal to CIN1 but without HR-HPV infection. CONCLUSIONS: Combinative surveillance of HR-HPV infection and Pap smear is a useful tool to detect and monitor precancerous lesions in the screening program. HR-HPV testing is a notable accessory screening program for detection of CIN in Taiwanese women.

Capillary morphogenesis gene-2 mutation in infantile systemic hyalinosis: ultrastructural study and mutation analysis in a Taiwanese infant.

Infantile systemic hyalinosis (ISH) is a very rare infantile stiff-skin syndrome characterized by extensive deposits of hyaline material in various organs, especially the skin and gingiva. Recent studies identified pathogenic mutations in the capillary morphogenesis gene 2 (CMG2) in both ISH and juvenile hyaline fibromatosis (JHF). Capillary morphogenesis protein-2 is an integrin-like cell surface receptor for laminins and type IV collagen, and may play a key role in cell-matrix or cell-cell interactions. We report a case of ISH in a 13-month-old Taiwanese girl who manifested progressive joint contractures, recurrent chest infections, chronic diarrhoea with severe hypoalbuminemia and ascites, gum hypertrophy, and violaceous papules and nodules over the occipital area, neck, lumbosacral and anogenital areas since birth. Skin biopsy revealed a thickened and hyalinized papillary dermis. Electron microscopy showed abundant extracellular fibrillogranular material and active fibroblasts with conspicuous Golgi complex filled with fibrillar material. Mutation analysis identified a homozygous 1073-1074insC mutation of CMG2 which had been reported in four other families and may represent a mutation hot spot.

Sclerosant extravasation as a complication of sclerosing endotherapy for bleeding gastric varices.

We report here the case of a 65-year-old woman who suffered intraperitoneal sclerosant leakage after endoscopic injection sclerotherapy for bleeding gastric varices. In total, 3 ml of N-butyl-2-cyanoacrylate and Lipiodol mixture was injected. The patient developed mild fever and pain over the left upper quadrant and flank after the procedure. In addition to a Lipiodol-filled gastric varix, the imaging studies disclosed a wide spread of Lipiodol over the left peritoneal cavity. The patient was kept fasting with parenteral antibiotics and nutrition. She responded well to the treatment, and all of the symptoms had subsided 6 days later.

A novel mutation in the keratin 4 gene causing white sponge naevus.

BACKGROUND: White sponge naevus (WSN) is a rare, autosomal dominant disorder that predominantly affects noncornified stratified squamous epithelia, most commonly the buccal mucosa. Clinically, WSN manifests as thickened spongy mucosa with a white opalescent tint in the mouth and may be confused with other disorders that cause white lesions on oral mucosa. Recent studies have identified pathogenic mutations in KRT4 and KRT13, the genes encoding mucosa-specific keratins, in WSN. OBJECTIVES: To search for possible mutations in KRT4 and KRT13. METHODS: We report a case of WSN in a young man who presented with diffuse irregular whitish plaques involving the buccal and gingival mucosae and the tongue. Results Pathologically, the affected mucosa showed epithelial thickening, parakeratosis and extensive vacuolization of the suprabasal keratinocytes. Mutation analysis revealed a heterozygous missense mutation 1345G-->A in KRT4, predicting an amino acid change, E449K, in the 2B domain of the K4 polypeptide. CONCLUSIONS: We report the first mutation analysis of a Taiwanese patient with WSN. Potentially this novel mutation could disrupt the stability of keratin filaments and result in WSN.

Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey-Hailey disease.

BACKGROUND: Hailey-Hailey disease (HHD) is an autosomal dominant disorder with recurrent eruption of vesicles and bullae involving predominantly the neck, groin and axillary regions. Histopathology shows suprabasal cleavage in epidermal cells. Recent studies have revealed that HHD is caused by mutations in the ATP2C1 gene encoding a novel Ca2+ pump. OBJECTIVES: To analyse the mutations of the ATP2C1 gene in Taiwanese patients with HHD. METHODS: In total, five familial and two sporadic cases of HHD were retrieved from the medical records. The diagnosis of HHD was made based on the characteristic clinical features and histopathological evidence. All 27 exons and flanking intron boundaries were amplified by polymerase chain reaction and products analysed by direct sequencing. RESULTS: We identified six novel mutations and one reported mutation: three deletion mutations (nt884-904del, 1459delCTCA, 1975delA), two non-sense mutations (R39X, R783X), one mis-sense mutation (A730T) and one splicing mutation (483 + 2T-->A). The non-sense mutation R39X had been reported previously; the other six mutations are novel mutations. CONCLUSIONS: These results demonstrate that a spectrum of ATP2C1 gene mutations is present in Taiwanese HHD patients.