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dc.contributor.authorEelloo, J
dc.contributor.authorSmith, M
dc.contributor.authorBowers, N
dc.contributor.authorEaling, J
dc.contributor.authorHulse, Paul
dc.contributor.authorWylie, James P
dc.contributor.authorShenjere, Patrick
dc.contributor.authorClarke, Noel W
dc.contributor.authorSoh, C
dc.contributor.authorWhitehouse, R
dc.contributor.authorJones, M
dc.contributor.authorDuff, C
dc.contributor.authorFreemont, A
dc.contributor.authorEvans, D Gareth R
dc.date.accessioned2019-09-11T09:09:20Z
dc.date.available2019-09-11T09:09:20Z
dc.date.issued2019en
dc.identifier.citationEelloo JA, Smith MJ, Bowers NL, Ealing J, Hulse P, Wylie JP, et al. Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant. Fam Cancer. 2019.en
dc.identifier.pmid31240424en
dc.identifier.doi10.1007/s10689-019-00138-4en
dc.identifier.urihttp://hdl.handle.net/10541/622049
dc.description.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 follicular 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 pathogenic variant in SMARCB1 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. Close surveillance continues with no recurrence after 6 yearS This case study describes a novel finding of three separate synchronous primary malignancies in a patient with schwannomatosis and a proven SMARCB1 pathogenic variant.en
dc.language.isoenen
dc.relation.urlhttps://dx.doi.org/10.1007/s10689-019-00138-4en
dc.titleMultiple primary malignancies associated with a germline SMARCB1 pathogenic varianten
dc.typeArticleen
dc.contributor.departmentManchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals Foundation Trust, Manchester M13 9WL, UKen
dc.identifier.journalFamilial Canceren
dc.description.noteen]


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