Somatostatinoma and Neurofibromatosis Type 1-A Case Report and Review of the Literature

Martin, Sorina; Fica, Simona; Parfeni, Ovidiu; Popa, Liliana Gabriela; Manuc, Teodora; Rizea, Oana; Lupescu, Ioana Gabriela; Gherghe, Mirela; Becheanu, Gabriel; Croitoru, Adina

doi:10.3390/diagnostics10090620

Cited by 11 publications

(14 citation statements)

References 54 publications

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“…The NF1 has a high mutation rate in humans, and only around 50% of NF1 mutations are familial, with the remainder occurring de novo without a previous familiar history of the disease 10 . The encoded protein has a GTPase-activating domain that interacts with RAS and converts active RAS-GTP to its inactive form 21 . Biallelic inactivation of the NF1 gene results in complete loss of functional neurofibromin 1 activity.…”

Section: Literature Reviewmentioning

confidence: 99%

“…Although neurofibromas are the hallmark of the disease, patients affected by NF1 have an increased risk of developing tumors other than neurofibromas, like schwannomas, Schwann cell hamartoma, PNs, and especially tumors of endocrine origin 12 , 21 , 36 . The presence of PNs is pathognomonic of NF1 syndrome, and the presence of synchronous GISTs and NETs in the background of disease is an uncommon possibility 28 .…”

Section: Introductionmentioning

confidence: 99%

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Multiple Neuroendocrine Neoplasia in a Patient With Type I Neurofibromatosis (Nf1): Report of a New Mutation (Nf1, Exons 2-30 Deletion) and Literature Review

Kanno

Mattos

Campos

et al. 2022

ABCD, arq. bras. cir. dig.

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BACKGROUND: Plexiform neurofibromas represent a common neoplasia of type 1 neurofibromatosis in which neurofibromas arise from multiple nerves involving connective tissue and skin and rarely affect the colon and rectum. Co-occurrence of plexiform neurofibromas, neuroendocrine tumors with primary involvement of the rectum, and medullary thyroid carcinoma in patients with neurofibromatosis type 1 is a previously undescribed condition. The aim of this manuscript was to present a case of primary plexiform neurofibroma and neuroendocrine tumors of the upper rectum in a patient with neurofibromatosis type 1 whose genetic sequencing found a novel mutation in the neurofibromatosis type 1 gene and to review the literature. CASE REPORT: A 49-year-old woman with a familial history of neurofibromatosis type 1 complained of abdominal cramps for 6 months. She had previously been submitted for a total thyroidectomy due to medullary thyroid carcinoma. She was submitted to a colonoscopy, which identified a submucosa lesion located in the upper rectum. The patient was referred for a laparoscopic rectosigmoidectomy, and the histopathological study of the surgical specimen identified two different tumors. An immunohistochemical panel was done for histopathological confirmation of the etiology of both lesions. The results of the panel showed intense immunoexpression of S100 protein in the largest and superficial lesion, as well as positivity for chromogranin and synaptophysin in the minor and deep lesion confirming the diagnosis of rectal plexiform neurofibromas concomitant with neuroendocrine tumors. The proliferative activity rate using Ki-67 antibodies showed that both tumors had a low rate of mitotic activity (<1%). Genetic sequence panel identified an undescribed mutation in the neurofibromatosis type 1 gene (deletion, exons 2–30). The patient’s postoperative evolution was uneventful, and she remains well, without recurrence, 3 years after surgery. CONCLUSION: The co-occurrence of medullary thyroid carcinoma, plexiform neurofibromas, and neuroendocrine tumors of the rectum in patients with neurofibromatosis type 1 is an exceptional and undescribed possibility, whose diagnosis can be confirmed by the immunohistochemical staining and genetic panel.

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Section: Literature Reviewmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Multiple Neuroendocrine Neoplasia in a Patient With Type I Neurofibromatosis (Nf1): Report of a New Mutation (Nf1, Exons 2-30 Deletion) and Literature Review

Kanno

Mattos

Campos

et al. 2022

ABCD, arq. bras. cir. dig.

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“…Fasting plasma somatostatin level > 30 pg/mL establishes the diagnosis. Survival rates are high for metastatic duodenal somatostatinomas in comparison to metastatic pancreatic somatostatinomas[ 48 ].…”

Section: Clinical Features Of Gep-nens With Hormone Hypersecretionmentioning

confidence: 99%

Gastroenteropancreatic neuroendocrine neoplasms: A clinical snapshot

Fernandez¹,

Agarwal²,

Pottakkat³

et al. 2021

WJGS

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Our understanding about the epidemiological aspects, pathogenesis, molecular diagnosis, and targeted therapies of neuroendocrine neoplasms (NENs) have drastically advanced in the past decade. Gastroenteropancreatic (GEP) NENs originate from the enteroendocrine cells of the embryonic gut which share common endocrine and neural differentiation factors. Most NENs are well-differentiated, and slow growing. Specific neuroendocrine biomarkers that are used in the diagnosis of functional NENs include insulin, glucagon, vasoactive intestinal polypeptide, gastrin, somatostatin, adrenocorticotropin, growth hormone releasing hormone, parathyroid hormone-related peptide, serotonin, histamine, and 5-hydroxy indole acetic acid (5-HIAA). Biomarkers such as pancreatic polypeptide, human chorionic gonadotrophin subunits, neurotensin, ghrelin, and calcitonin are used in the diagnosis of non-functional NENs. 5-HIAA levels correlate with tumour burden, prognosis and development of carcinoid heart disease and mesenteric fibrosis, however several diseases, medications and edible products can falsely elevate the 5-HIAA levels. Organ-specific transcription factors are useful in the differential diagnosis of metastasis from an unknown primary of well-differentiated NENs. Emerging novel biomarkers include circulating tumour cells, circulating tumour DNA, circulating micro-RNAs, and neuroendocrine neoplasms test (NETest) (simultaneous measurement of 51 neuroendocrine-specific marker genes in the peripheral blood). NETest has high sensitivity (85%-98%) and specificity (93%-97%) for the detection of gastrointestinal NENs, and is useful for monitoring treatment response, recurrence, and prognosis. In terms of management, surgery, radiofrequency ablation, symptom control with medications, chemotherapy and molecular targeted therapies are all considered as options. Surgery is the mainstay of treatment, but depends on factors including age of the individual, location, stage, grade, functional status, and the heredity of the tumour (sporadic vs inherited). Medical management is helpful to alleviate the symptoms, manage inoperable lesions, suppress postoperative tumour growth, and manage recurrences. Several molecular-targeted therapies are considered second line to somatostatin analogues. This review is a clinical update on the pathophysiological aspects, diagnostic algorithm, and management of GEP NENs.

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“…GEP-NETs may present as hormonally functional or nonfunctional tumors and may have distinct clinical features based on their site of origin. Additionally, they present a specific tissue characteristic that can be targeted by molecular imaging and peptide receptor radionuclide therapy (PRRT), such as expression of different receptors, especially somatostatin receptors (SSTRs), particularly SSTR2 and SSTR5 [ 6 , 7 , 8 , 9 , 10 ].…”

Section: Introductionmentioning

confidence: 99%

The New Radiolabeled Peptide 99mTcEDDA/HYNIC-TOC: Is It a Feasible Choice for Diagnosing Gastroenteropancreatic NETs?

Gherghe

Lazăr

Stanciu

et al. 2022

Cancers

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(1) Background: The aim of our study is to reveal the advantages and limitations of the use of 99mTcEDDA/HYNIC-TOC (Tektrotyd®, Polatom) in the diagnosis of gastroenteropancreatic neuroendocrine tumors and to compare our results with the values obtained for 111In-pentetreotide and 68Ga-DOTA-peptides, routinely used in medical practice. (2) Methods: This retrospective monocentric study included 173 patients with gastroenteropancreatic neuroendocrine tumors who underwent 99mTcEDDA/HYNIC-TOC scans as part of their clinical management. The examination protocol included a whole-body scan acquired 2 h after the radiotracer’s administration, with the SPECT/CT performed 4 h post-injection. Physiological and abnormal uptake were established by two experienced physicians and, based on the obtained results, sensitivity, specificity, accuracy, positive predictive value and negative predictive value were calculated. (3) Results: Our method presented a sensitivity of 90.5%, a specificity of 71.9%, and an accuracy of 84.3%, with a positive predictive value of 86.7% and a negative predictive value of 78.8%. (4) Conclusions: 99mTc-EDDA/HYNIC-TOC, a receptor-based radiopharmaceutical, could represent a competitor for 68Ga-labeled peptides in the diagnosis and management of patients with gastroenteropancreatic neuroendocrine tumors. Our results show a lower sensitivity (90.5%) than 68Ga-DOTA-peptides, but with great specificity, accuracy, positive, and negative predictive values.

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Somatostatinoma and Neurofibromatosis Type 1-A Case Report and Review of the Literature

Cited by 11 publications

References 54 publications

Multiple Neuroendocrine Neoplasia in a Patient With Type I Neurofibromatosis (Nf1): Report of a New Mutation (Nf1, Exons 2-30 Deletion) and Literature Review

Multiple Neuroendocrine Neoplasia in a Patient With Type I Neurofibromatosis (Nf1): Report of a New Mutation (Nf1, Exons 2-30 Deletion) and Literature Review

Gastroenteropancreatic neuroendocrine neoplasms: A clinical snapshot

The New Radiolabeled Peptide 99mTcEDDA/HYNIC-TOC: Is It a Feasible Choice for Diagnosing Gastroenteropancreatic NETs?

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