Sarcoma in neurofibromatosis 2: case report and review of the literature

We report a 22-year-old man who presented with retroperitoneal and spinal high-grade sarcomas with epithelial features. Samples showed a mixed epithelioid and spindled cell content with little associated matrix and inconclusive immunochemistry. Genetic analysis of a schwannoma and matched blood samples demonstrated a constitutional de novo substitution at the splice donor site of intron 8 of the NF2 gene and aa acquired large deletion of the entire NF2 gene as a second hit, with some loss ofSMARCB1. The sarcoma also showed evidence of loss ofSMARCB1 andNF2 with loss of INI1 staining. Unfortunately the mass was unresectable and the patient died 6  months after diagnosis. This malignancy was most consistent with SMARCB1-deficient epithelioid malignant peripheral nerve sheath tumour, although a significant differential was proximal-type epithelial sarcoma. Each differential has previously been reported only once with NF2. This demonstrates an extremely rare potential complication of the condition.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research

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Publication date: Available online 15 November 2019Source: Pharmacological ResearchAuthor(s): Hao Jia, Haixia Peng, Zhaoyuan HouAbstractThe LIM protein Ajuba contains an unstructured proline/glycine-rich preLIM region in the N terminus and conserved tandem LIM motifs in the C terminus. Additionally, Ajuba contains both nuclear export sequences (NES) and nuclear localization sequences (NLS), which enable Ajuba shuttle between the cytoplasm and the nucleus. Thus, Ajuba can act as a versatile scaffold participating in assembly of variety of protein complexes to execute multiple cellular functions including cell adhesion, moti...
Source: Pharmacological Research - Category: Drugs & Pharmacology Source Type: research
Publication date: Available online 14 November 2019Source: Pharmacological ResearchAuthor(s): Mingxue Li, Dun Wang, Jianhua He, Lixia Chen, Hua LiAbstractB-cell lymphoma-extra large (Bcl-XL) is one of the anti-apoptotic proteins of the Bcl-2 family that is localized in the mitochondria. Bcl-XL is one of the key regulators of apoptosis that can also regulate other important cellular functions. Bcl-XL is overexpressed in many cancers, and its inhibitors have shown good therapeutic effects. Bcl-XL interacts with Beclin 1, a key factor regulating autophagy.Bcl-XL is essential for the survival of neurons and plays protective ro...
Source: Pharmacological Research - Category: Drugs & Pharmacology Source Type: research
Authors: Leow K, Lynch MF, Lee J PMID: 31718228 [PubMed - as supplied by publisher]
Source: International Journal of Aging and Human Development - Category: Geriatrics Tags: Int J Aging Hum Dev Source Type: research
A. Praveena*, S. Arthi and B. Sudarmathi
Source: Indian Journal of Pharmaceutical Sciences - Category: Drugs & Pharmacology Source Type: research
ConclusionsThis is the first sun protection accreditation program developed for Spanish schools. Studies are needed to evaluate how this program is received and how it affects students’ sun protection behaviors.ResumenIntroducciónLa exposición solar en la infancia es el principal factor de riesgo para el desarrollo de cáncer de piel en la vida adulta. Las intervenciones basadas en programas y políticas de fotoprotección escolar han demostrado ser las estrategias más eficaces y coste-efectivas para la prevención del cáncer de piel.ObjetivosElaborar un modelo de c...
Source: Actas Dermo-Sifiliograficas - Category: Dermatology Source Type: research
Authors: Zhang Y, Tang M, Wang XG, Gu JH, Zhou LN, Jin J, Li P, Wang LQ, Chen MB Abstract BACKGROUND: interleukin-37 (IL-37) is as a natural suppressor of the innate inflammatory and immune responses. It has also been reported to be involved in carcinogenesis and metastasis. The present case-control study was designed to investigate the role of serum levels of IL-37 in patients with gastric cancer. METHODS: serum IL-37 levels were determined using the enzyme-linked immunosorbent assay in 180 patients diagnosed with gastric cancer and 100 healthy controls. The association between IL-37 levels and clinical factor...
Source: Revista Espanola de Enfermedades Digestivas - Category: Gastroenterology Tags: Rev Esp Enferm Dig Source Type: research
Authors: Villar Lucas C, Hernando Martín M, Álvarez-Cuenllas B Abstract Juvenile polyps are hamartomatous lesions, usually unique, which appear at an early age. They are usually located in the rectosigmoid junction and are not thought to imply a higher risk of colorectal cancer. Here we report a case of signet ring cell (SRC) carcinoma in this type of lesion. PMID: 31718199 [PubMed - as supplied by publisher]
Source: Revista Espanola de Enfermedades Digestivas - Category: Gastroenterology Tags: Rev Esp Enferm Dig Source Type: research
CONCLUSION: The various evaluation methods for predicting a pCR after PCRT show a predictive sensitivity of 0.15-0.41 for primary tumors and 0.52-0.88 for lymph nodes. Endoscopy is a relatively superior modality for predicting the pCR of the primary tumor of LARC patients. PMID: 31726004 [PubMed]
Source: Annals of Coloproctology - Category: Gastroenterology Tags: Ann Coloproctol Source Type: research
CONCLUSION: Surgical oncologists consider the patient's condition and postoperative course rather than high-risk factors to determine use of AC. Regardless of AC use, both the extent of surgery and the patient's subsequent status affected the survival rate in the high-risk group. None of the factors identified influenced survival rate in the low-risk group. PMID: 31726001 [PubMed]
Source: Annals of Coloproctology - Category: Gastroenterology Tags: Ann Coloproctol Source Type: research
This study aimed to investigate the efficacy and feasibility of adding induction chemotherapy to neoadjuvant CRT in locally advanced rectal cancer. METHODS: This phase-II clinical trial included 54 patients with newly diagnosed, locally advanced (clinical T3-4 and/or N1-2, M0) rectal cancer. All patients were treated with 3 cycles of preoperative chemotherapy using the XELOX (capecitabine + oxaliplatin) regimen before and after a concurrent standard long course of CRT (45-50.4 Gy) followed by standard radical surgery. Pathologic complete response (PCR) rate and toxicity were the primary and secondary endpoints, respect...
Source: Annals of Coloproctology - Category: Gastroenterology Tags: Ann Coloproctol Source Type: research
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