scholarly journals Cowden Syndrome and Concomitant Pulmonary Neuroendocrine Tumor: A Presentation of Two Cases

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Seppo W. Langer ◽  
Lene Ringholm ◽  
Christine I. Dali ◽  
Rene Horsleben Petersen ◽  
Åse Krogh Rasmussen ◽  
...  
Keyword(s):  
Gastrointestinal Tract ◽  
Neuroendocrine Tumor ◽  
Neuroendocrine Tumors ◽  
Human Body ◽  
Cowden Syndrome ◽  
Malignant Neoplasms ◽  
Histological Subtypes ◽  
Genitourinary System ◽  
Increased Risk ◽  
Pulmonary Carcinoids

Cowden Syndrome is a rare autosomal dominantly inherited disorder. Patients with Cowden Syndrome are at increased risk of various benign and malignant neoplasms in breast, endometrium, thyroid, gastrointestinal tract, and genitourinary system. Neuroendocrine tumors are ubiquitous neoplasms that may occur anywhere in the human body. Bronchopulmonary neuroendocrine tumors include four different histological subtypes, among these, typical and atypical pulmonary carcinoids. No association between Cowden Syndrome and neuroendocrine tumors has previously been described. We present two cases of Cowden Syndrome that were diagnosed with pulmonary carcinoids.

Neuroendocrine tumor of the periappendicular area of the cecum bottom – a case report

2021 ◽  
Vol 75 (1) ◽  
pp. 68-71
Author(s):  
Lukáš Bača ◽  
Róbert Psár ◽  
Martin Hanousek ◽  
Petr Fojtík
Keyword(s):  
Case Report ◽  
Gastrointestinal Tract ◽  
Neuroendocrine Tumor ◽  
Neuroendocrine Tumors ◽  
Enteroendocrine Cells ◽  
Special Group ◽  
Slow Growing

Neuroendocrine tumors are slow-growing neoplasms, histologically based on enteroendocrine cells. They are tumors with different degrees of differentiation, uncertain bio­logical nature and metastatic ability. Their most common localization is the gastrointestinal tract, with a special group of the neuroendocrine tumors of appendix, which are incidentally found after appendectomy. In case report, we would like to present a case of a patient with neuroendocrine tumors of appendix dia­gnosed by colonoscopy.

scholarly journals WHO Grade 2 Neuroendocrine Tumor in a 15-Year-Old Male: A Case Report and Literature Review

2014 ◽  
Vol 2014 ◽  
pp. 1-4
Author(s):  
Eric Johannesen ◽  
Van Nguyen
Keyword(s):  
Neuroendocrine Tumor ◽  
Neuroendocrine Tumors ◽  
Neuroendocrine Differentiation ◽  
Failure To Thrive ◽  
Proliferation Index ◽  
Neuroendocrine Neoplasms ◽  
Who Grade ◽  
Increased Risk ◽  
History Of ◽  
Well Differentiated

Neuroendocrine tumors, distinguished from adenocarcinomas by their neuroendocrine differentiation, are the most common pediatric epithelial malignancy that most often occurs in the appendix. In 2010, the WHO classified neuroendocrine neoplasms into three grades based on morphology, mitotic count, and Ki67 proliferation index. A 15-year-old male with a history of anemia and failure to thrive was diagnosed with a well-differentiated neuroendocrine tumor in the jejunum that invaded into the subserosal soft tissue and metastasized to four lymph nodes. Pediatric neuroendocrine tumors frequently arise within hereditary tumor syndromes with pancreatic neuroendocrine tumors being the most common. Several studies also indicate an elevated risk of small intestinal neuroendocrine tumors in which children born to a parent with a history of neuroendocrine tumors in the small intestine have a significant increased risk of developing one.

scholarly journals The problems of delayed diagnostics of neuroendocrine tumors of the gastrointestinal tract and pancreas (clinical case)

2018 ◽  
Vol 41 (3) ◽  
pp. 46-49
Author(s):  
L. G. Vologzhanina ◽  
I. V. Petukhova
Keyword(s):  
Surgical Treatment ◽  
Gastrointestinal Tract ◽  
Neuroendocrine Tumor ◽  
Neuroendocrine Tumors ◽  
Proton Pump Inhibitors ◽  
Proton Pump ◽  
Clinical Case ◽  
Late Detection

Gastrinoma is a rare neuroendocrine tumor, with frequent cases of late detection. A clinical case of late diagnostics of gastrinoma complicated by metastases is presented, with symptomatology remaining after surgical treatment, which is stopped with the help of proton pump inhibitors.

scholarly journals Neuroendocrine tumors of the urinary system: literature review

2019 ◽  
Vol 15 (2) ◽  
pp. 126-133
Author(s):  
D. V. Abbasova ◽  
S. B. Polikarpova ◽  
N. A. Kozlov ◽  
A. S. Markova ◽  
E. A. Bogush ◽  
...  
Keyword(s):  
Gastrointestinal Tract ◽  
Neuroendocrine Tumors ◽  
Neuroendocrine Carcinoma ◽  
Large Cell ◽  
Research Centre ◽  
Malignant Neoplasms ◽  
Urinary System ◽  
Morphological Classification ◽  
National Medical ◽  
Pulmonary System

Most often, neuroendocrine carcinoma (NEC) is found in the gastrointestinal tract, broncho-pulmonary system, but they can also occur in other organs, such as the kidney, bladder, which is of most interest because of the rarity of this pathology. Until recently, there was not even a proper morphological classification for kidney NEC, and among some histological types, such as large cell neuroendocrine carcinoma of the kidney, only about 7 cases were recorded, and independent bladder carcinoids, about 15 cases. Currently, there are no clinical and morphological features of the NEC of the kidney and bladder, fundamentally distinguishing them from other neuroendocrine tumors and “classic” cancer of the same localization. This article also provides the data of the N.N. Blokhin National Medical Research Centre of Oncology on the incidence of all malignant neoplasms of the urinary system.

scholarly journals Second Malignant Neoplasms in Patients With Cowden Syndrome With Underlying Germline PTEN Mutations

2014 ◽  
Vol 32 (17) ◽  
pp. 1818-1824 ◽  
Author(s):  
Joanne Ngeow ◽  
Kim Stanuch ◽  
Jessica L. Mester ◽  
Jill S. Barnholtz-Sloan ◽  
Charis Eng
Keyword(s):  
Breast Cancer ◽  
General Population ◽  
Primary Breast Cancer ◽  
Mutational Analysis ◽  
Significant Risk ◽  
Cowden Syndrome ◽  
Malignant Neoplasms ◽  
Pten Mutation ◽  
Increased Risk ◽  
Second Malignant Neoplasms

Purpose Patients with Cowden syndrome (CS) with underlying germline PTEN mutations are at increased risk of breast, thyroid, endometrial, and renal cancers. To our knowledge, risk of subsequent cancers in these patients has not been previously explored or quantified. Patients and Methods We conducted a 7-year multicenter prospective study (2005 to 2012) of patients with CS or CS-like disease, all of whom underwent comprehensive PTEN mutational analysis. Second malignant neoplasms (SMNs) were ascertained by medical records and confirmed by pathology reports. Standardized incidence ratios (SIRs) for all SMNs combined and for breast, thyroid, endometrial, and renal cancers were calculated. Results Of the 2,912 adult patients included in our analysis, 2,024 had an invasive cancer history. Germline pathogenic PTEN mutations (PTEN mutation positive) were identified in 114 patients (5.6%). Of these 114 patients, 46 (40%) had an SMN. Median age of SMN diagnosis was 50 years (range, 21 to 71 years). Median interval between primary cancer and SMN was 5 years (range, < 1 to 35 years). Of the 51 PTEN mutation–positive patients who presented with primary breast cancer, 11 (22%) had a subsequent new primary breast cancer and 10-year second breast cancer cumulative risk of 29% (95% CI, 15.3 to 43.7). Risk of SMNs compared with that of the general population was significantly elevated for all cancers (SIR, 7.74; 95% CI, 5.84 to 10.07), specifically for breast (SIR, 8.92; 95% CI, 5.85 to 13.07), thyroid (SIR, 5.83; 95% CI, 3.01 to 10.18), and endometrial SMNs (SIR, 14.08.07; 95% CI, 7.10 to 27.21). Conclusion Patients with CS with germline PTEN mutations are at higher risk for SMNs compared with the general population. Prophylactic mastectomy should be considered on an individual basis given the significant risk of subsequent breast cancer.

scholarly journals Invasive neuroendocrine tumor of the kidney: a case report

Rare Tumors ◽  
2009 ◽  
Vol 1 (2) ◽  
pp. 115-116
Author(s):  
Ephrem O Olweny ◽  
Michael H Hsieh ◽  
Jill C Buckley ◽  
Jack W McAninch
Keyword(s):  
Case Report ◽  
Neuroendocrine Tumor ◽  
Neuroendocrine Tumors ◽  
Renal Mass ◽  
En Bloc Resection ◽  
Bloc Resection ◽  
En Bloc ◽  
Genitourinary System ◽  
Local Invasion ◽  
Thoracoabdominal Approach

Neuroendocrine tumors (NETs) involve the genitourinary system in less than 1% of cases, with primary renal carcinoids comprising only 19% of reported genitourinary NETs (56 cases worldwide). We report a case of a renal NET presenting as a large renal mass with extensive local invasion, requiring definitive radical en bloc resection via a thoracoabdominal approach.

Vitamin A: dietologist’s position

2020 ◽  
pp. 49-57
Author(s):  
S. V. Orlova ◽  
E. A. Nikitina ◽  
L. I. Karushina ◽  
Yu. A. Pigaryova ◽  
O. E. Pronina
Keyword(s):  
Immune Response ◽  
Urinary Tract ◽  
Gastrointestinal Tract ◽  
Vitamin A ◽  
Developed Countries ◽  
Therapeutic Practice ◽  
The Past ◽  
Increased Risk ◽  
Mucous Membranes

Vitamin A (retinol) is one of the key elements for regulating the immune response and controls the division and differentiation of epithelial cells of the mucous membranes of the bronchopulmonary system, gastrointestinal tract, urinary tract, eyes, etc. Its significance in the context of the COVID‑19 pandemic is difficult to overestimate. However, a number of studies conducted in the past have associated the additional intake of vitamin A with an increased risk of developing cancer, as a result of which vitamin A was practically excluded from therapeutic practice in developed countries. Our review highlights the role of vitamin A in maintaining human health and the latest data on its effect on the development mechanisms of somatic pathology.

The Role of Wireless Capsule Endoscopy (WCE) in the Detection of Occult Primary Neuroendocrine Tumors

2017 ◽  
Vol 26 (2) ◽  
pp. 151-156
Author(s):  
Manuele Furnari ◽  
Andrea Buda ◽  
Gabriele Delconte ◽  
Davide Citterio ◽  
Theodor Voiosu ◽  
...  
Keyword(s):  
Neuroendocrine Tumor ◽  
Neuroendocrine Tumors ◽  
Capsule Endoscopy ◽  
Primary Tumor ◽  
Diagnostic Yield ◽  
Somatostatin Receptor ◽  
Tertiary Care ◽  
Wireless Capsule Endoscopy ◽  
First Line ◽  
Wireless Capsule

Background & Aims: Neuroendocrine tumors (NETs) are a heterogeneous group of neoplasms with unclear etiology that may show functioning or non-functioning features. Primary tumor localization often requires integrated imaging. The European Neuroendocrine Tumors Society (ENETS) guidelines proposed wireless-capsule endoscopy (WCE) as a possible diagnostic tool for NETs, if intestinal origin is suspected. However, its impact on therapeutic management is debated. We aimed to evaluate the yield of WCE in detecting intestinal primary tumor in patients showing liver NET metastases when first-line investigations are inconclusive.Method: Twenty-four patients with histological diagnosis of metastatic NET from liver biopsy and no evidence of primary lesions at first-line investigations were prospectively studied in an ENETS-certified tertiary care center. Wireless-capsule endoscopy was requested before explorative laparotomy and intra-operative ultrasound. The diagnostic yield of WCE was compared to the surgical exploration.Results: Sixteen subjects underwent surgery; 11/16 had positive WCE identifying 16 bulging lesions. Mini-laparotomy found 13 NETs in 11/16 patients (9 small bowel, 3 pancreas, 1 bile ducts). Agreement between WCE and laparotomy was recorded in 9 patients (Sensitivity=75%; Specificity=37.5%; PPV=55%; NPV=60%). Correspondence assessed per-lesions produced similar results (Sensitivity=70%; Specificity=25%; PPV=44%; NPV=50%). No capsule retentions were recorded.Conclusions: Wireless-capsule endoscopy is not indicated as second-line investigation for patients with gastro-entero-pancreatic NETs. In the setting of a referral center, it might provide additional information when conventional investigations are inconclusive about the primary site.Abbreviations: DBE: double balloon enteroscopy; GEP-NET: gastro-entero-pancreatic neuroendocrine tumor; GI: gastrointestinal; ENETS: European Neuroendocrine Tumor Society; NET: neuroendocrine tumor; SSRS: somatostatin receptor scintigraphy; WCE: wireless capsule endoscopy.

scholarly journals Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group

2021 ◽  
Author(s):  
M. C. Frühwald ◽  
K. Nemes ◽  
H. Boztug ◽  
M. C. A. Cornips ◽  
D. G. Evans ◽  
...  
Keyword(s):  
Working Group ◽  
Soft Part ◽  
Genetic Disorders ◽  
Panel Discussion ◽  
Rhabdoid Tumor ◽  
Host Genome ◽  
Cancer Surveillance ◽  
Malignant Neoplasms ◽  
Pathogenic Variants ◽  
Increased Risk

AbstractThe rhabdoid tumor (RT) predisposition syndromes 1 and 2 (RTPS1 and 2) are rare genetic conditions rendering young children vulnerable to an increased risk of RT, malignant neoplasms affecting the kidney, miscellaneous soft-part tissues, the liver and the central nervous system (Atypical Teratoid Rhabdoid Tumors, ATRT). Both, RTPS1&2 are due to pathogenic variants (PV) in genes encoding constituents of the BAF chromatin remodeling complex, i.e. SMARCB1 (RTPS1) and SMARCA4 (RTPS2). In contrast to other genetic disorders related to PVs in SMARCB1 and SMARCA4 such as Coffin-Siris Syndrome, RTPS1&2 are characterized by a predominance of truncating PVs, terminating transcription thus explaining a specific cancer risk. The penetrance of RTPS1 early in life is high and associated with a poor survival. However, few unaffected carriers may be encountered. Beyond RT, the tumor spectrum may be larger than initially suspected, and cancer surveillance offered to unaffected carriers (siblings or parents) and long-term survivors of RT is still a matter of discussion. RTPS2 exposes female carriers to an ill-defined risk of small cell carcinoma of the ovaries, hypercalcemic type (SCCOHT), which may appear in prepubertal females. RT surveillance protocols for these rare families have not been established. To address unresolved issues in the care of individuals with RTPS and to propose appropriate surveillance guidelines in childhood, the SIOPe Host Genome working group invited pediatric oncologists and geneticists to contribute to an expert meeting. The current manuscript summarizes conclusions of the panel discussion, including consented statements as well as non-evidence-based proposals for validation in the future.

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