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Neurofibromatosis 1 Presenting with Multiple Duodenal Gists Associated with a Somatostatin-Producing D Cell Neoplasm

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Abstract

The co-existence of a duodenal somatostatin-producing D cell neoplasm and multiple duodenal gastrointestinal stromal tumours (GISTs) in a 61-year-old woman with neurofibromatosis type 1 is reported. Histologically, the D cell neoplasm showed a glandular pattern with psammoma bodies and was metastatic to regional lymph nodes and liver at the time of surgery. Tumour cells were monomorph and showed intense and diffuse immunoreactivity for somatostatin, focal positivity for calcitonin, while were negative for other gastroenteropancreatic hormones including insulin, glucagon, pancreatic polypeptide, serotonin and gastrin. Four submucosal and subserosal GISTs, ranging from 5 to 15 mm in diameter, were composed of uniform spindle-shaped cells lacking mitoses and contained numerous skeinoid fibres. The tumours were positive for CD117, DOG1, vimentin and CD34 and did not have KIT or PDGFRA mutations. The clinical and pathological importance of this unusual association is discussed.

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Authors and Affiliations

  1. Operative Unit of Anatomic Pathology, Azienda Ospedaliera “Ospedale di Circolo” di Busto Arsizio, Via A. da Brescia 1, 21052, Busto Arsizio, Italy

    Giovanni Serio & Clementina Zampatti

  2. Operative Unit of Surgery, Azienda Ospedaliera “Ospedale di Circolo” di Busto Arsizio, Busto Arsizio, Italy

    Andrea Ballabio & Francesco Zurleni

  3. Institute of Anatomic Pathology, Università Cattolica del Sacro Cuore, Policlinico Gemelli, Roma, Italy

    Riccardo Ricci & Maurizio Martini

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  1. Giovanni Serio
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  2. Clementina Zampatti
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  3. Andrea Ballabio
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  4. Riccardo Ricci
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  5. Maurizio Martini
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  6. Francesco Zurleni
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Correspondence to Giovanni Serio.

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Serio, G., Zampatti, C., Ballabio, A. et al. Neurofibromatosis 1 Presenting with Multiple Duodenal Gists Associated with a Somatostatin-Producing D Cell Neoplasm. Endocr Pathol 24, 100–105 (2013). https://doi.org/10.1007/s12022-013-9239-x

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  • DOI: https://doi.org/10.1007/s12022-013-9239-x

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