Association of GIST and Somatostatinoma in a Patient With Type-1 Neurofibromatosis: Is There a Common Pathway?

Background/Objective: Neuroendocrine neoplasms of the pancreas and duodenum with predominant or exclusive immunoreactivity for somatostatin (pdSOMs) are rare, and knowledge about tumour biology, treatment, survival and prognostic factors is limited. This study aims to describe clinical, pathological and biochemical features as well as treatment and prognosis of pdSOMs. Design: Twenty-three patients with pdSOM (9 duodenal, 12 pancreatic and 2 unknown primary tumours) were identified from our prospective neuroendocrine tumour database, and data according to the study aims were recorded. Results: Among the 9 patients with duodenal SOM, the male/female ratio was 4/5. All males and 1 female had neurofibromatosis type 1. Seven patients had stage 1A/B and 2 had stage 2B disease. The Ki-67 index was 1-5% (median 2%). Plasma somatostatin was elevated in the patients with 2B disease. Of the 14 patients with pancreatic SOM or an unknown primary tumour, the male/female ratio was 2/12. One male had multiple endocrine neoplasia type 1. Five had stage 1A/2B and 9 had stage 4. The Ki-67 index was 1-40% (median 7%). Plasma somatostatin was elevated in 7 patients. Patients reported symptoms related to the somatostatinoma syndrome, but none fulfilled the criteria for a full syndrome. Primary tumour in the pancreas, metastatic disease at diagnosis and higher tumour grade were all associated with significantly poorer survival. Conclusion: None of the patients with pdSOM presented with the full somatostatinoma syndrome. Prognostic factors are localisation of the primary tumour, dissemination and tumour grade. A Ki-67 index of 5% may discriminate the course of the disease.

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“…To our knowledge, only 13 cases with the triad of GIST, dSOM and NF-1 have previously been reported [28,29,30,31,32,33,34,35,36,37,38,39,40,41]. …”

Section: Discussionmentioning

confidence: 99%

Somatostatin-Immunoreactive Pancreaticoduodenal Neuroendocrine Neoplasms: Twenty-Three Cases Evaluated according to the WHO 2010 Classification

Luna¹,

Monrad²,

Binderup³

et al. 2015

Neuroendocrinology

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“…The combination of GISTs and somatostatinomas in NF-1 is rare and, to the best of our knowledge, only six examples have been documented in the English literature [8][9][10][11][12][13]. The case described herein reports the sixth example of this association as well the novel association of vasculopathy.…”

Section: Discussionmentioning

confidence: 77%

“…The coexistence of a somatostatin-producing neuroendocrine carcinoma of the ampullary area and a GIST in an NF-1 patient is extremely uncommon with only six case reports in the English literature [8][9][10][11][12][13]. We wish to report the sixth case demonstrating this association of lesions but also highlight prominent associated vasculopathic changes, a feature of NF-1 that has not been documented previously in association with a somatostatinoma and a GIST.…”

mentioning

confidence: 89%

Vasculopathic Changes, a Somatostatin-Producing Neuroendocrine Carcinoma and a Jejunal Gastrointestinal Stromal Tumor in a Patient with Type 1 Neurofibromatosis

Chetty

Vajpeyi

2009

Endocr Pathol

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A 36-year-old male with neurofibromatosis type 1 (NF-1) presented with symptoms of obstructive jaundice. Imaging showed a periampullary mass, which on endoscopic retrograde cholangiopancreatography biopsy proved to be a somatostatinoma. A Whipple's procedure was performed and a somatostatinoma of the duodenum was confirmed. In addition, the patient had a gastrointestinal stromal tumor (GIST) of the jejunum with accompanying hyperplasia of interstitial cells of Cajal. The somatostatinoma was histologically characteristic with pseudoglandular and solid patterns together with psammoma bodies and lymphovascular invasion. The GIST did not display mutations in c-kit or platelet-derived growth factor receptor genes. The novel finding in this case was the presence of several vessels in the submucosa and muscularis propria of the duodenum displaying prominent intimal hyperplasia and in keeping with so-called neurofibromatosis-associated vasculopathy. These abnormal vessels were within and close to the somatostatinoma only and were not found away from the tumor. It is thought that the vasculopathy is related to NF-1 with abnormal neurofibromin possibly playing a role.

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“…With respect to the tumor location, most of these tumors arose in the head of the pancreas, followed by the body and tail. A diffuse distribution throughout the pancreas or arising from the ectopic pancreas was rarely observed (Barahona-Garrido et al, 2009). In some reports, pancreatic somatostatinoma was detected in association with neurofibromatosis type 1, MEN-1, and von Hippel-Lindau syndromes (Maki et al, 1995;Levy-Bohbot et al, 2004;Barahona-Garrido et al, 2009).…”

Section: Discussionmentioning

confidence: 99%

“…A diffuse distribution throughout the pancreas or arising from the ectopic pancreas was rarely observed (Barahona-Garrido et al, 2009). In some reports, pancreatic somatostatinoma was detected in association with neurofibromatosis type 1, MEN-1, and von Hippel-Lindau syndromes (Maki et al, 1995;Levy-Bohbot et al, 2004;Barahona-Garrido et al, 2009). Recently, some clinicians presumed that there might exist an association between gastrointestinal stromal tumors (GIST) and somatostatinoma (Barahona-Garrido et al, 2009).…”

Section: Discussionmentioning

confidence: 99%

Pancreatic somatostatinoma with obscure inhibitory syndrome and mixed pathological pattern

Zhang

Xie

Gao

et al. 2010

J. Zhejiang Univ. Sci. B

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Somatostatinoma is a very rare neuroendocrine tumor that originates from D cells and accounts for less than 1% of all gastrointestinal endocrine tumors. The duodenum is the most frequent site for this tumor, followed by the pancreas. We here describe a 46-year-old Chinese woman who developed pancreatic somatostatinoma presenting with the characteristic "inhibitory" syndrome, but the symptoms were obscure and seemingly uncorrelated. This case is also unique for its large tumor size and mixed pathological pattern. Distal pancreatectomy was performed, and the patient has remained well since operation. As the syndromes of somatostatinoma may be obscure and atypical, clinicians should review all clinical findings to obtain an accurate diagnosis. Aggressive surgery is preferred to improve the survival.

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Association of GIST and Somatostatinoma in a Patient With Type-1 Neurofibromatosis: Is There a Common Pathway?

Cited by 15 publications

References 16 publications

Somatostatin-Immunoreactive Pancreaticoduodenal Neuroendocrine Neoplasms: Twenty-Three Cases Evaluated according to the WHO 2010 Classification

Somatostatin-Immunoreactive Pancreaticoduodenal Neuroendocrine Neoplasms: Twenty-Three Cases Evaluated according to the WHO 2010 Classification

Vasculopathic Changes, a Somatostatin-Producing Neuroendocrine Carcinoma and a Jejunal Gastrointestinal Stromal Tumor in a Patient with Type 1 Neurofibromatosis

Pancreatic somatostatinoma with obscure inhibitory syndrome and mixed pathological pattern

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