Pancreatic Gastrinoma, Gastrointestinal Stromal Tumor (GIST), Pheochromocytoma, and Hürthle Cell Neoplasm in a Patient with Neurofibromatosis Type 1: A Case Report and Literature Review

Arif, Arif A.; Kim, Peter T. W.; Melck, Adrienne; Churg, Andrew; Schwartz, Zachary; Stuart, Heather

doi:10.12659/ajcr.927761

Cited by 4 publications

(3 citation statements)

References 38 publications

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“…5 Only a handful of pNETs have previously been reported in patients with NF-1, almost all of which were malignant. 3,[6][7][8][9][10][11][12][13][14] This contrasts with the malignant potential of periampullary and duodenal NETs in NF-1, which has been reported as only 1%, suggesting an alternative mechanism of tumorigenesis. 4 Only five of these cases represent gastrin-secreting tumors.…”

Section: Discussionmentioning

confidence: 99%

Neurofibromatosis Type 1

Gauci¹,

Azzopardi²,

Babić³

et al. 2022

Pancreas

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Neurofibromatosis type (NF-1) is an autosomal dominant disorder characterized predominantly by neurocutaneous manifestations. Involvement of the gastrointestinal tract is uncommon but is associated with a significant risk of malignancy. There are a handful of case reports linking NF-1 with pancreatic neuroendocrine tumors; these include gastrin-secreting variants with the attendant Zollinger-Ellison syndrome. We present the case of a 52-year-old lady who presented with recurrent peptic ulceration and diarrhea. Serum gastrin levels were elevated and magnetic resonance imaging demonstrated the presence of a pancreatic lesion with multiple liver metastases. The lesion was moderately fludeoxyglucose avid on positron emission tomography-computed tomography. Endoscopic ultrasonography-guided sampling revealed the presence of synaptophysin positive neuroendocrine cells with positive gastrin immunostaining. A conservative approach was adopted, and the patient's symptoms improved on proton pump inhibitors. Zollinger-Ellison syndrome is an important condition, which should be kept in mind in the patient with NF-1 who presents with recurrent peptic ulceration and diarrhea. The emerging association between these 2 conditions is being examined on a cellular and immunohistochemical level.

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Section: Discussionmentioning

confidence: 99%

Neurofibromatosis Type 1

Gauci¹,

Azzopardi²,

Babić³

et al. 2022

Pancreas

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“…While immunotherapies are approved in multiple cancer types, their role in the treatment paradigm of GIST is still unclear (38,39). A review of studies of GIST in NF1 across databases for the last 10 years is identified in Table 2 (10,(40)(41)(42)(43)(44)(45)(46)(47)(48).…”

Section: Histological Sample (A) Low Power H and E Showing Spindle Sh...mentioning

confidence: 99%

Laparoscopic retroperitoneal resection of the duodenal gastrointestinal stromal tumors in neurofibromatosis type 1; Case Report and literature review

et al. 2022

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BackgroundNeurofibromatosis type 1, also known as NF1, is a disorder that is passed down in an autosomal dominant manner. It manifests in a wide variety of tumors and affects several organ systems. It is expected that those carrying the NF1 gene will develop a rare mesenchymal tumor known as a gastrointestinal stromal tumor (GIST) more than general population.Case reportThis research discusses a 42-year-old female patient with NF1 who was identified with a duodenal GIST but clinically and radiographically misinterpreted as having a retroperitoneal neurofibroma. She had minimally invasive retroperitoneal laparoscopic surgery to remove the tumor and primary anastomosis of the affected duodenal wall. A spindle cell GIST was entirely excised during surgery, as indicated by the pathologist. As a consequence of dialogue at a multidisciplinary team meeting, the patient was discharged from the hospital on the fourth postoperative day and is presently undergoing regular clinical follow-up.ConclusionAnatomically problematic sites, such as the duodenal GIST in NF1 patients, can be treated safely with the laparoscopic retroperitoneal approach even when retroperitoneal neoplasia arises from the intrabdominal structure and protrudes into the retroperitoneal region.

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“…About 10% of NF1 patients develop malignant peripheral nerve sheath tumors (MPNSTs), usually arising from plexiform neurofibroma and this is the major cause of poor prognosis [ 11 , 12 ]. Pheochromocytoma, sarcoma, melanoma, breast cancer, leukemia, and gastrointestinal stromal tumors (GISTs) are also frequently associated to NF1 [ 13 , 14 ].…”

Section: Introductionmentioning

confidence: 99%

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype

Napolitano

Dell’Aquila

Terracciano

et al. 2022

Genes

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Neurofibromatosis type 1 (NF1) is one of the most common genetic tumor predisposition syndrome, caused by mutations in the NF1. To date, few genotype-phenotype correlations have been discerned in NF1, due to a highly variable clinical presentation. We aimed to study the molecular spectrum of NF1 and genotype-phenotype correlations in a monocentric study cohort of 85 NF1 patients (20 relatives, 65 sporadic cases). Clinical data were collected at the time of the mutation analysis and reviewed for accuracy in this investigation. An internal phenotypic categorization was applied. The 94% of the patients enrolled showed a severe phenotype with at least one systemic complication and a wide range of associated malignancies. Spine deformities were the most common complications in this cohort. We also reported 66 different NF1 mutations, of which 7 are novel mutations. Correlation analysis identified a slight significant inverse correlation between age at diagnosis and delayed acquisition of psychomotor skills with residual multi-domain cognitive impairment. Odds ratio with 95% confidence interval showed a higher prevalence of learning disabilities in patients carrying frameshift mutations. Overall, our results aim to offer an interesting contribution to studies on the genotype–phenotype of NF1 and in genetic management and counselling.

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Pancreatic Gastrinoma, Gastrointestinal Stromal Tumor (GIST), Pheochromocytoma, and Hürthle Cell Neoplasm in a Patient with Neurofibromatosis Type 1: A Case Report and Literature Review

Cited by 4 publications

References 38 publications

Neurofibromatosis Type 1

Neurofibromatosis Type 1

Laparoscopic retroperitoneal resection of the duodenal gastrointestinal stromal tumors in neurofibromatosis type 1; Case Report and literature review

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype

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