Well-differentiated Pancreatic Neuroendocrine Tumor in a Patient With Familial Atypical Multiple Mole Melanoma Syndrome (FAMMM)

We present a patient with a CDKN2A germline mutation (p16-Leiden mutation) and mosaicism for neurofibromatosis type 2, who presented with a small asymptomatic pancreatic lesion, detected during endoscopic ultrasound screening of the pancreas. After resection, the lesion was found to be a well-differentiated pancreatic neuroendocrine tumor (PanNET). Molecular analysis of the tumor showed somatic loss of the second allele, supporting a causal relation of the PanNET to the underlying FAMMM syndrome. Recent data, showing the association between certain single-nucleotide polymorphisms in the CDKN2A gene and an increased incidence for PanNET, further support a role for germline CDKN2A alterations in PanNET risk. We conclude that PanNETs can be a phenotypic expression of FAMMM syndrome. This can have implications for screening and for the diagnosis of pancreatic neoplasms in carriers of germline CDKN2A mutations.
Source: The American Journal of Surgical Pathology - Category: Pathology Tags: Case Report Source Type: research

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ConclusionsWithin a population at risk of fetal macrosomia the performance of 3D-US-EFW is similar to that of 2D-US-EFW in the prediction of macrosomia at term regardless of the method used for the projection of the EFW, however different properties were noted between the two techniques. Such finding suggests a potential complementary role of the techniques which warrants evaluation in future research.
Source: European Journal of Obstetrics and Gynecology and Reproductive Biology - Category: OBGYN Source Type: research
The objective of this study was to evaluate the influence of gross tumor morphology on clinicopathological profile of CRCs in Kashmiri population.MethodsThis 5-year study is a prospective (2 yrs) and retrospective (3 yrs) study conducted from 2011 to 2016 in the Colorectal Surgery Division at Sher-i-Kashmir Institute of Medical Sciences (SKIMS), Srinagar, Kashmir, India. Parameters studied were age, sex, site of lesion, clinical presentations, gross tumor morphology, and histopathology of the lesion.ResultsA total of 930 patients with CRC were included. Infiltrative variety was the most common morphology in patients aged 1...
Source: Current Medicine Research and Practice - Category: General Medicine Source Type: research
We report an unprecedented case of squamous cell carcinoma (SCC) in the floor of mouth of a 23-year-old woman with XP. The patient was referred to the oncologist and, two months after surgical resection, underwent a single chemotherapy and radiotherapy session. However, she died 73 hours after undergoing her first chemotherapy session. Considering the unexpected outcome of this case, we also investigated possible exacerbated adverse effects of antineoplastic treatments (especially cisplatin-based chemotherapy) in XP patients, and discussed the main characteristics of the disease, especially cases with oral manifestations d...
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - Category: ENT & OMF Source Type: research
ConclusionsThe current rapid, multi-slice acquisition and real-time implementation of temperature and displacement visualization may be useful in clinical practices. It may help defining operational safety margins, improving therapy precision and efficacy. Simulations were in good agreement with experimental data and may thus be used prior treatment for procedure planning.
Source: NeuroImage - Category: Neuroscience Source Type: research
ConclusionsOur device represents an improvement and a valid alternative to the current methods diagnosing regional cerebral circulation.Graphical abstract
Source: Journal of Neuroscience Methods - Category: Neuroscience Source Type: research
Publication date: Available online 12 October 2019Source: The Annals of Thoracic SurgeryAuthor(s): Yiyang Wang, Difan Zheng, Tianxiang Chen, Jie Zhang, Feng Yao, Haiquan ChenAbstractBackgroundWe aimed to find out the prognosis of stage IB invasive lung adenocarcinoma according to perioperative tumor markers (TMs), especially carcinoembryonic antigen (CEA), and to determine whether TMs could guide adjuvant chemotherapy.MethodsStage IB adenocarcinoma patients were selected from two medical centers in Shanghai between January 2007 and December 2013. Perioperative TMs including preoperative and postoperative TMs were stratifie...
Source: The Annals of Thoracic Surgery - Category: Cardiovascular & Thoracic Surgery Source Type: research
Conclusion: Considering the excellent diagnostic accuracy, ultrasonography can be used as an alternative means in diagnosis of metatarsal bone fractures. PMID: 31602432 [PubMed]
Source: Accident and Emergency Nursing - Category: Emergency Medicine Authors: Tags: Arch Acad Emerg Med Source Type: research
In this study, metal-organic framework-2 (MOF-2) nanomaterial (NM) was synthesized and then coupled with ultrasound (US) process in the presence of peroxydisulfate (S2O82−) for Acid Blue 7 (AB7) degradation as a triarylmethane model dye. The XRD, FT-IR, SEM, TEM, BET, and DRS analyses were utilized to confirm the appropriate formation of nanoporous flake-like MOF-2 with a high specific surface area of 942.6 m2/g. The combined US/MOF-2/S2O82− process demonstrated the highest performance compared to the US and US/S2O82− processes in the same operational conditions. The mentioned processes obeyed pseudo-fi...
Source: Journal of Molecular Liquids - Category: Molecular Biology Source Type: research
Abstract The conventional Drug Delivery System (DDS) has limitations such as leakage of the drug, toxicity to normal cells and loss of drug efficiency, while the stimuli-responsive DDS is non-toxic to cells, avoiding the leakage and degradation of the drug because of its targeted drug delivery to the pathological site. Thus nanomaterial chemistry enables - the development of smart stimuli-responsive DDS over the conventional DDS. Stimuliresponsive DDS ensures spatial or temporal, on-demand drug delivery to the targeted cancer cells. The DDS is engineered by using the organic (synthetic polymers, liposomes, peptide...
Source: Current Pharmaceutical Design - Category: Drugs & Pharmacology Authors: Tags: Curr Pharm Des Source Type: research
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Source: Der Hautarzt: Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete - Category: Dermatology Tags: Hautarzt Source Type: research
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