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.
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.
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.
The von Hippel-Lindau disease is a highly penetrant autosomal dominant syndrome characterized by tumor predisposition in different organs.
This study aimed to describe a case of a pancreatoduodenectomy for a 30-year-old male patient with von Hippel-Lindau disease.
We present a case study and the literature review aiming at the state-of-the-art management of a patient with pheochromocytoma, capillary hemangioblastoma in the peripheral retina, and two neuroendocrine tumors in the pancreas.
A larger pancreatic lesion was located in the uncinate process, measuring 31 mm. The smaller lesion was located in the proximal pancreas and was detected only on the positron emission tomography-computed tomography scan with DOTATOC-68Ga. Genetic investigation revealed a mutation in the locus NM_000551.3 c.482G>A (p.Arg161Gln) of the Von Hippel-Lindau Human Suppressor gene. The uncinate process tumor was larger than 30 mm and the patient had a mutation on exon 3; therefore, we indicated a pancreatoduodenectomy involving the proximal pancreas to resect both tumors en bloc. During the postoperative period, the patient presented a peripancreatic fluid collection, which was treated as a grade B pancreatic fistula with clinical resolution of the complication. On postoperative day 21, he was discharged home.
The management of patients with von Hippel-Lindau disease and pancreatic neuroendocrine tumors is complex and must be centered on tertiary institutions with a large volume of pancreatic surgery. Although the current literature assists in decision-making in most situations, each step of the treatment requires analysis and discussion between different medical specialties, including surgeons, clinicians, radiologists, and anesthesiologists.
Pancreatic neuroendocrine tumors (PNETs) are uncommon and heterogeneous neoplasms, often exhibiting indolent biological behavior. Their incidence is rising, largely due to the widespread use of high-resolution imaging techniques, particularly influencing the diagnosis of sporadic non-functioning tumors, which account for up to 80% of cases. While surgical resection remains the only curative option, the impact of factors such as tumor grade, size, and type on prognosis and recurrence is still unclear.
To investigate prognostic risk factors and outcomes in patients with sporadic PNETs treated surgically.
A retrospective analysis was conducted on patients with sporadic PNETs who underwent pancreatic resection. Data were collected from medical records.
A total of 113 patients were included: 32 with non-functioning tumors (NF-PNETs), 70 with insulinomas, and 11 with other functioning tumors (OF-PNETs). Patients with insulinoma were significantly younger, had a higher BMI, lower prevalence of comorbidities and ASA scores, and underwent significantly more pancreatic enucleations compared to patients with OF-PNET and NF-PNET. The insulinoma group had more grade I tumors, smaller tumor diameter, lower TNM staging, and lower disease recurrence rates. In univariate analysis, age, tumor type, tumor size, and TNM staging were identified as potential risk factors for tumor recurrence. In multivariate analysis, only the NF-PNET type was identified as an independent prognostic factor for disease recurrence.
NF-PNETs are an independent prognostic risk factor for disease recurrence. This finding supports the need for closer follow-up of patients with small tumors who are selected for conservative management.
BACKGROUND: Neuroendocrine tumors (NETs) are rare, comprising nearly 0.49% of all malignancies. The majority occurs in the gastrointestinal tract. AIM: To analyze the demographic factors, clinicopathologic features, treatment employed, prognostic factors and the oncologic results related to colorectal NETs. METHODS: Between the period from 1996 to 2010 174 patients were treated. From these, 34 were localized in the colon and rectum. Demographic factors, stage, therapeutics and its results were analyzed. All patients were followed for more than three years with image exams, urinary 5-hydroxyindolacetic acid (5-HIIA), serum chromogranin A and prostatic acid phosphatase. RESULTS: The median age was 54,4 years (22-76), the majority was female (64,7%). Out of the 12 patients with colon NETs, one (8.3%) patient was classified as Stage IA; one (8.3%) as Stage IB; three (25%) as Stage IIIB and seven (58.4%) as Stage IV. Out of the 22 patients with rectum NETs, six (27.3%) were classified as Stage IA; four (18.2%) as IB; three (13.6 %) as IIIA; one (4.5%) as IIIB and eight (36.4%) as IV. Of rectal NETs, nine (41%) were treated with endoscopic resection, six (27.2%) underwent conventional surgical treatment and six (27.2%) were treated with chemotherapy. Eleven patients with colon NETs (91.6%) were surgically treated, seven of them with palliative surgery, one (8.4%) was treated with endoscopic resection and no patient was submitted to chemotherapy. After an average follow-up of 55 months, 19 (55%) patients were alive. Analyzing the overall survival was obtained an average overall survival of 29 months in Stage IA, 62 months in IB, 12 months in IIIA, 31 months in IIIB and 39 months in IV. CONCLUSION: The treatment of colon and rectal NETs is complex, because it depends of the individuality of each patient. With adequate management, the prognosis can be favorable with long survival, but it is related to the tumor differentiation degree, efficacy of the chosen treatment and to the patient adhesion to the follow-up after treatment.
Gastric neuroendocrine tumors are a heterogeneous group of neoplasms that produce bioactive substances. Their treatment varies according to staging and classification, using endoscopic techniques, open surgery, chemotherapy, radiotherapy, and drugs analogous to somatostatin.
To identify and review cases of gastric neuroendocrine neoplasia submitted to surgical treatment.
Review of surgically treated patients from 1983 to 2018.
Fifteen patients were included, predominantly female (73.33%), with a mean age of 55.93 years. The most common symptom was epigastric pain (93.3%), and the mean time of symptom onset was 10.07 months. The preoperative upper digestive endoscopy (UDE) indicated a predominance of cases with 0 to 1 lesion (60%), sizing ≥1.5 cm (40%), located in the gastric antrum (53.33%), with ulceration (60%), and Borrmann III (33.33%) classification. The assessment of the surgical specimen indicated a predominance of invasive neuroendocrine tumors (60%), with angiolymphatic invasion in most cases (80%). Immunohistochemistry for chromogranin A was positive in 60% of cases and for synaptophysin in 66.7%, with a predominant Ki-67 index between 0 and 2%. Metastasis was observed in 20% of patients. The surgical procedure most performed was subtotal gastrectomy with Roux-en-Y reconstruction (53.3%). Tumor recurrence occurred in 20% of cases and a new treatment was required in 26.67%.
Gastric neuroendocrine tumors have a low incidence in the general population, and surgical treatment is indicated for advanced lesions. The study of its management gains importance in view of the specificities of each case and the need for adequate conduct to prevent recurrences and complications.
Neuroendocrine tumors are rare neoplasms of uncertain biological behavior. The liver is one of the most common sites of metastases, occurring in 50% of patients with metastatic disease.
To analyze a clinical series in liver transplant of patients with neuroendocrine tumors metastases.
A retrospective descriptive study, based on the review of medical records of patients undergoing liver transplants due to neuroendocrine tumor metastases in a single center in northeast Brazil, over a period of 20 years (January 2001 to December 2021).
During the analyzed period, 2,000 liver transplants were performed, of which 11 were indicated for liver metastases caused by neuroendocrine tumors. The mean age at diagnosis was 45.09±14.36 years (26–66 years) and 72.7% of cases were females. The most common primary tumor site was in the gastrointestinal tract in 64% of cases. Even after detailed investigation, three patients had no primary tumor site identified (27%). Overall survival after transplantation at one month was 90%, at one year was 70%, and five year, 45.4%. Disease-free survival rate was 72.7% at one year and 36.3% at five years.
Liver transplantation is a treatment modality with good overall survival and disease-free survival results in selected patients with unresectable liver metastases from neuroendocrine tumors. However, a rigorous selection of patients is necessary to obtain better results and the ideal time for transplant indication is still a controversial topic in the literature.
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