Bowers, Naomi

Clarke, Noel

Duff, Christopher J.

Ealing, John

Eelloo, Judith

Evans, D Gareth

Freemont, Tony

Hulse, Paul

Jones, Mark

Shenjere, Patrick

Smith, Miriam J

Soh, Calvin

Whitehouse, Richard

Wylie, James

English

A 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 14cm 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) 6cm 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 six 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.<br/

The University of Manchester - Institutional Repository

Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant

https://pure.manchester.ac.uk/ws/files/102780953/SMARCB1_three_primary_malignancies_R1ge.doc

Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant

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