Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant

AbstractA 51-year old presented with a 6-month history of increasing pelvic/lower back pain with nocturnal waking and episodes of anorexia and vomiting. Examination revealed right torticollis and Horner ’s syndrome, and a large abdominal mass arising from the pelvis. Magnetic resonance and positron emission tomography imaging revealed (A) a 14 cm heterogeneous enhancing mass, abutting the left kidney with standardised uptake value max = 2.9, (B) a large heterogeneous enhancing pelvic mass (C ) mesenteric adenopathy standardised uptake value max = 10.3 and (D) 6 cm right lung apex mass standardised uptake value max = 4.3. Computerised tomography-guided biopsy of lesion A was reported as neurofibroma with occasional atypia, lesion B a benign uterine leiomyoma and lesion C follicu lar lymphoma world health organisation Grade 2. Although she had been given the diagnosis of Neurofibromatosis Type-1 (NF1) 25-years previously following removal of an intradural extramedullary schwannoma she had no cutaneous stigmata of NF1. Genetic analysis of blood lymphocyte DNA identified a pat hogenic variant inSMARCB1 confirming a diagnosis of schwannomatosis. Following 6-months chemotherapy for lymphoma, surgery was performed to remove lesion A. Histology revealed a malignant peripheral nerve sheath tumour with areas of low and high-grade change. An incidental, well-differentiated small bowel neuroendocrine carcinoma was also excised. Cl...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research

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You could consider this a follow-up to one of last week’s posts: Are You Most Loyal to Purpose or People? I want to share another way of framing the mindset of being loyal to purpose ahead of people, especially for those who’d prefer to shift into greater loyalty to purpose. Putting purpose first isn’t dehumanizing if you frame it a certain way – if your purpose actually involves serving people. If, however, your purpose is mainly self-centered, like if it’s based on individual achievements that will be of little or no benefit to others, then I think you’re more likely to run in...
Source: Steve Pavlina's Personal Development Blog - Category: Psychiatry & Psychology Authors: Tags: Abundance Values Source Type: blogs
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CONCLUSION: Within the limitations of the present study, attachments with PEEK and PEKK inserts combined with titanium patrices are favorable for long-term use, both for orthogonal and tilted implants. All three attachment systems showed a high variability of the retentive forces at baseline and for subsequent cycles. This should be taken into consideration for clinical use. PMID: 32957206 [PubMed - in process]
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In conclusion, this study explores the physiological in-situ response of knee cartilage and meniscus, based on stress MRI, and as a function of loading intensity, joint alignment, histological tissue status, and biomechanical properties, as another step towards clinical implementation. PMID: 32957197 [PubMed - in process]
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