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Background
Neurofibromatosis type 1 is a relatively common inherited disorder. Patients with neurofibromatosis type 1 are at high risk of developing neurogenic, neuroendocrine and mesenchymal intra-abdominal tumors. Although coexistence of multiple tumors of different types is frequent in neurofibromatosis type 1, simultaneous occurrence of abdomin...
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Background
Neurofibromatosis type 1 is an autosomal dominant genetic disease with characteristic café-au-lait spots, neurofibroma, and dystrophic changes in the bones. However, complications involving atlanto-axial dislocation are rare.
Case presentation
We report a case of neurofibromatosis with atlanto-axial dislocation. The chief complaints wer...
Background
Pheochromocytomas and Paragangliomas (PCC/PGL) are rare endocrine tumors that are mostly benign, but often hormone producing, causing significant morbidity and mortality due to excess catecholamine secretion and cardiovascular crises. It is estimated that 30% of PCC/PGL are due to germline mutations, including Neurofibromatosis type 1 (N...
Abstract We present a rare case of histologically proven neurofibromatosis of the liver, hepatic hilum, retroperitoneum, and mesentery. An adult male who had been diagnosed with neurofibromatosis (NF) type 1 underwent a computed tomography (CT) scan for abdominal pain and vomiting. The CT scan showed a large low-attenuating lesion in the region of...
Rationale
Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder characterized by cafe au lait macules and neurofibromatosis. Renal artery aneurysms are relatively uncommon. Endovascular techniques are effective in treating renal aneurysms but successful cases are rarely reported in NF-1 adults.
Patient concerns
The patient was one 23-y...
Citations
... The type of operation will depend on some factors, including the size and location of the tumor, whether the person has any other serious diseases, and whether the tumor is causing the carcinoid syndrome [4]. To determine the best treatment for different GI-NETs, they are classified into four subtypes based on their histology, morphology, and pathogenesis [5][6][7][8]. Due to their low rates of locoregional metastasis (<5%), type I NETs are usually treated with endoscopic resection or watchful waiting to observe symptoms or tumor progression [5,7,9]. Also, antrectomy can be considered in patients with these types of gastric tumors with multiple lesions or in patients who will require frequent endoscopic resection because of progressive, invasive, or recurrent disease [5,7]. ...
Gastrointestinal Carcinoid Tumors are neoplasms that originate in the lining of the gastrointestinal (GI) tract and are derived from the neuroendocrine cells. It is rare for these tumors to be detected before they develop metastases, and they are often discovered incidentally during surgery for other abdominal conditions. Currently, various treatment options are available for managing these tumors, such as surgery, which is usually the most effective treatment. The type of surgery depends on several factors, including the size and location of the tumor, the patient's comorbidities, and the presence of carcinoid syndrome. As a result of the low probability of metastasizing, surgery is typically the best treatment option for neuroendocrine tumors of type I. NETs of type II and III are the most aggressive and require a formal gastrostomy, whereas NETs of type IV are treated with local ablation or cytotoxic chemotherapy. The first line of pharmacological treatment is somatostatin analogs (SSAs); they inhibit hormone production and tumor cell proliferation by binding to G-protein-coupled somatostatin receptors (SSTRs). Another option is Telotristat, which inhibits tryptophan hydroxylase - 1 (TPH-1) in the digestive tract, thereby reducing serotonin production. The treatment of patients with carcinoid syndrome who are refractory to SSAs could be improved by peptide receptor radionuclide therapy (PRRT), which uses radiolabeled somatostatin analogs to target overexpressed somatostatin receptors in well-differentiated NETs.
... NF-1 is an autosomal dominant disorder caused by mutations in the tumor suppressor gene NF-1. It is commonly associated with neurogenic and central nervous system neoplasms in addition to a wide variety of other benign and malignant tumors 11,12 . One molecular investigation in a pediatric patient with NF-1 and MCT suggested the possibility of teratomas arising in NF-1 patients secondary to a biallelic inactivation of the NF1 gene. ...
The coexistence of both mucinous adenocarcinoma and carcinoid tumor within an ovarian mature cystic teratoma is extremely rare. We report a case of an 18-year-old Omani woman with a left ovarian cyst. After laparotomy with left salpingo-oophorectomy, omentectomy, and peritoneal washings, the excised cyst had the typical morphology of mature cystic teratoma with grade I mucinous adenocarcinoma and a focus of carcinoid tumor.
... The most frequent symptoms are attributed to the mass effect: jaundice and non-specific abdominal pain are the most common, occurring in approximately two thirds of patients, followed by weight loss, gastrointestinal bleeding, and anemia. Due to the high risk of NF1-related malignancies, patients with abdominal symptoms may show one or more intra-abdominal, synchronous, or metachronous tumors, especially gastrointestinal stromal tumors, associated with dNETs [188]. ...
Neuroendocrine neoplasms (NENs) are a heterogeneous group of neoplasms which represent a true challenge for clinicians. Their incidence and prevalence have been increasing over the past years partly due to increased awareness and improvements in instrumental diagnostic techniques so that a growing number of clinicians are facing this disease. Management of NEN represents a clinical challenge because of its late presentation, scarcity of standardized guidelines, and limitations in imaging modalities and biomarkers to guide management. The beginning of the diagnostic process of NENs is often based on the measurement of circulating markers, before planning expensive and invasive diagnostic tests; however up to 60–80% of NENs are metastatic at diagnosis, which highlights the frequent failure to identify symptoms or to establish a biochemical diagnosis. Classical available markers, which can be divided into general and specific biomarkers, often lack sensitivity and/or specificity and need to be interpreted in the diagnostic process. Therefore, it is very important to know the advantages and limitations of these diagnostic tools. On the other hand, new biomarkers are emerging in the scenario of molecular diagnostics. This chapter aims to review the different characteristics of the available biomarkers, exposing the strengths and limitations of each, for their best clinical use.
... The other incentive to identify this association is that the management of GISTs is essentially curative. In contrast, sporadic GISTs are typically solitary and are found in the stomach [10]. The median age of onset for sporadic GISTs is 60-65 years old compared to the median age of onset of NF-1 associated GISTs, 49-years-old [11]. ...
Neurofibromatosis-1 (NF-1) is an autosomal dominant condition characterized by cutaneous pigmentation and tumour formation along nerves in the brain, skin, and other organs. Gastrointestinal stromal tumours (GIST) are rare mesenchymal tumours involving the gastrointestinal tract (GI) associated with NF-1. We present a case of life-threatening GI bleeding from GIST in a patient with NF-1. In NF-1 patients presenting with GI bleeding, GISTs should be part of the differential. Clinicians must have a low threshold for urgent abdominal imaging if endoscopy does not detect the source of GI bleeding.
... In most cases, neurofibromas are caused by sporadic mutations but in 10% of cases, this tumor appears in individuals afflicted with neurofibromatosis. This tumor can appear in any part of the body and is not specific to a particular region [55]. Neurofibromas are categorized into 3 groups: localized which is the most common form in adults between the ages of 20 to 40, diffuse, and plexiform. ...
Background and Aim: Neurofibromatosis-1 (NF1) is a common genetic condition in children. It is becoming increasingly recognized that in neurofibromatosis, there might be anomalous development of bone with or without any local anomaly of neuroectodermal basis. This review was conducted to highlight the different features of spinal disorders in this congenital disease.
Methods and Materials: Different search engines were used in this research. After going through the results and discarding the repeated ones, 2 reviewers began to inspect the studies independent of one another. In case of any disagreements between the reviewers over the inclusion of certain research material into the study, the final decision was made by the senior author. In the end, accepted research materials were used as needed in categorizing different types of spinal injuries.
Results: Skeletal defects are among the most effective complications on the quality of life of patients. Bone deformities, osteoporosis, osteopenia, reduction of bone mass density, and spinal osteopathy such as scoliosis among such defects. Although the relative prevalence of spinal defects in neurofibromatosis type 1 is not clear, scoliosis can be considered the most common type of spinal deformity in this illness to the point it is present in 10 to 71% of cases. Thus, spine surgeons may face numerous common challenging conditions in NF1 patients like scoliosis, spondylolisthesis, and dural ectasia.
Conclusion: As NF1 distresses several organ systems, radiologic spine screening is important in patients with NF1 and patients are likely to profit most from a multidisciplinary treatment policy.
... It is a benign tumor of the peripheral nerves, but can eventually transform into a malignant tumor in about 10% of the cases [4,5]. It is usually found in the head and neck, extremities, or pelvis [1], but seldom observed in the liver [6][7][8][9][10][11][12][13][14][15]. Furthermore, plexiform neurofibroma of the liver without NF1 is extremely rare [16,17]. ...
... The coronal image shows the tumor mainly localized in the porta hepatis and extending along the periportal area of the liver via the Glisson's sheath. It can be observed extending into the retroperitoneum around the aorta, into the area surrounding the celiac and hepatic arteries (g) have been reported in patients with NF1 [11][12][13][14][15]19], most involving children and young adults. Furthermore, plexiform neurofibroma of the liver without NF1 is extremely rare, with only two cases reported up till now [16,17]. ...
Plexiform neurofibroma is mainly associated with neurofibromatosis type 1 and is seldom observed in the liver. Its occurrence in the liver without neurofibromatosis type 1 is even rarer. We report an extremely rare case of plexiform neurofibroma of the liver diagnosed by laparoscopic biopsy in a patient without neurofibromatosis type 1. The patient was a 35-year-old man who had neither clinical signs nor any family history of neurofibromatosis type 1. Abdominal ultrasonography, as part of a health screening, had detected a hepatic tumor. Subsequent contrast ultrasonography, computed tomography, and magnetic resonance imaging showed the tumor extending from the retroperitoneal space around the aorta to the hepatic hilum and distal portal branches in the right hepatic lobe, gallbladder, and left hepatic lobe. 18F-fluorodeoxyglucose positron emission tomography showed no abnormal accumulation. Histopathological examination of the tumor obtained laparoscopically led to a diagnosis of plexiform neurofibroma. Because the patient was asymptomatic with no features of malignancy, he was only monitored and managed. At follow-up 10 years later, computed tomography showed a decrease in tumor size. It is important to recognize that, while rare, plexiform neurofibroma can occur without neurofibromatosis type 1. We recommend follow-up instead of unreasonable surgery in such cases.
... Furthermore, patients with NF-1 are at high risk of developing neurogenic, neuroendocrine, and mesenchymal intra-abdominal tumors. Patients with NF-1 and abdominal symptoms should be treated with a high index of clinical suspicion and thoroughly evaluated to rule out multiple tumors [13][14][15] . Ultrasonography is an effective and safe method for the diagnosis of abdominal diseases [16][17][18] . ...
Background:
Gastrointestinal stromal tumors (GISTs) associated with neurofibromatosis are uncommon compared to their gastrointestinal counterparts. Patients with neurofibromatosis type 1 (NF-1) have an increased risk of developing gastrointestinal tumors, including rare types such as GIST.
Case summary:
A 60-year-old male Chinese patient was diagnosed with NF-1 10 years ago and presented with upper abdominal discomfort and black stools. Endoscopic ultrasonography and an enhanced abdominal computed tomography scan revealed a mass located 4 cm from the muscular layer of the descending duodenum. A 59-year-old Chinese woman who was diagnosed with NF-1 25 years ago presented with sudden unconsciousness and black stools. Multiple masses in the duodenum were noted by echogastroscopy and an enhanced abdominal computed tomography scan. Both patients presented with cutaneous neurofibromas. The histologic examination of tumors from both patients revealed spindle cells and low mitotic activity. Immunohistochemically, the tumor cells showed strong positivity for KIT (CD117), DOG-1, CD34, and Dehydrogenase Complex Subunit B, and negativity for SMA, desmin, S-100, and β-catenin. None of the six tumors from two patients had KIT exon 9, 11, 13, or 17 or platelet-derived growth factor receptor α exon 12 or 18 mutation, which is a typical finding for sporadic GISTs. None of the six tumors from the two patients had a BRAFV600E mutation. The patients were alive and well during the follow-up period (range: 0.6-5 yr).
Conclusion:
There have been only a few previous reports of GISTs associated with NF-1. Although GISTs associated with NF-1 have morphologic and immunohistochemical similarities with GISTs, the pathogenesis, incidence, genetic background, and prognosis are not completely known. A medical history of NF-1 in a patient who has gastrointestinal bleeding or anemia and an intra-abdominal mass with nonspecific computed tomography features may help in diagnosing GIST by virtue of the well-known association of these two entities. Molecular genetic studies of cases indicated that GISTs in NF-1 patients have a different pathogenesis than sporadic GISTs.
... The coexistence of multiple tumours of different types is frequent in neurofibromatosis type 1 because of variable penetrance of the autosomal gene [17]. The patient may be subject to one or more tumours in synchronous or metachronous fashion [19]. ...
... They tend to grow to large sizes and may cause substantial disfigurement [12,13]. Plexiform neurofibromas are seen exclusively in NF1; they are thought to be congenital and usually manifest early in life with an incidence of 15-30% [19,22]. In the abdomen, they are most commonly found in the abdomino-pelvic wall and retro-peritoneum. ...
... Neuroendocrine tumours (NET) of the digestive system associated with NF1 (Figs. 5 and 6) NETs are reported in about 1% of individuals with NF1 [19]. NF1-related NETs are among other inherited syndromes such as multiple endocrine neoplasia type 1 syndrome or tuberous sclerosis [29]. ...
Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders. Gastrointestinal manifestations of NF-1 are seldom thought of in routine clinical practice and might thus be significantly under-recognised. Their heterogeneous spectrum ranges from localised microscopic proliferative lesions to grossly recognizable mass-forming neurofibromas, neuroendocrine and gastrointestinal stromal tumours (GIST). The aim of this study is discussing the imaging evaluation and characterisation of the abdomen lesions in patients with NF1.
Teaching points:
• Neurofibromatosis type (NF-1) is one of the most common single gene disorders. • Every organ system can be involved and intra-abdominal manifestations are underestimated. • The NF1 abdominal manifestations comprehend five categories of tumours. • Neurogenic tumours including with neurofibromas are the most common type. • Early diagnosis of abdominal manifestations of NF-1 based on imaging patterns is necessary for appropriate treatment to avoid serious organic complications related to tumour mass.
A relevant number of neuroendocrine neoplasms (NENs) show a hereditary background being associated with a genetic endocrine neoplastic syndrome. Multiple endocrine neoplasia type 1 (MEN1), multiple endocrine neoplasia type 2 (MEN2), variants MEN2A and MEN2B, and multiple endocrine neoplasia type 4 (MEN4) present NENs as main and typical manifestations, while Von Hippel–Lindau disease (VHL) and neurofibromatosis type 1 (NF1) are mainly characterized by neoplasms of non-neuroendocrine origin. Among NENs, pancreatic and thyroid tumors are most frequently associated with hereditary syndromes, the former being found in MEN1, MEN4, VHL, NF1, and the latter in MEN2A and B. Rare NEN sites are lung, thymus, and stomach, while pituitary and parathyroid adenomas are common in MEN1 and MEN4, as well as pheochromocytoma and paragangliomas in MEN2, VHL, NF1. The diagnosis of hereditary NENs is anticipated of approximately two to three decades as compared to the sporadic counterpart. At histology the neuroendocrine tumors associated with genetic syndromes associated with hereditary syndromes are generally well differentiated, low proliferating, multiple, and multifocal. They are also frequently functioning, thus resulting in different types of endocrine syndromes, such as hyperinsulinemic hypoglycemia, Zollinger–Ellison, hyperprolactinemia, hyperparathyroidism, hypersecretion of catecholamines, and other rarer syndromes. Neuroendocrine carcinomas are extremely rare.
