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Ectopic Cushing's syndrome, caused by a neuroendocrine tumor (NET), is a rare finding. NETs of the mediastinum are extremely rare. NETs arising from the anterior mediastinum are generally aggressive. They are widely characterized at clinical presentations, and may be asymptomatic or present with atypical symptoms. Prognosis is often poor due to their local recurrence and distant metastasis despite a multimodal approach. A 33-year-old male patient was admitted to our department with a femoral soft tissue abscess, diabetes, and hypokalemia. He had no typical features of Cushing's syndrome. However, with a few simple tests, that is, a basal hormone profile, and low-dose and high-dose dexamethasone suppression tests, we diagnosed this complicated condition of ectopic adrenocorticotrophic hormone (ACTH) secretion. Thoracic computed tomography revealed an anterior mediastinal mass of 35 × 22 mm. A surgical excision of the tumor was proposed, and intra-operative pathology consultation returned positive for the suspected NET. Immunohistochemically, the tumor cells were positive for CK, CD56, Chromogranin, Synaptophysin, S100, and CD117. No thymic tissue was found. The Ki-67 was 4%. A diagnosis of primary NETs of the mediastinum, intermediate grade (G2), of atypical carcinoids according to WHO 2015 was established. This patient survived with no sequelae, no distant metastasis, no recurrence, and without adjuvant radiotherapy or chemotherapy 2 years after surgery thanks to earlier diagnosis and prompt surgical intervention. Mediastinum ectopic ACTH-secreting tumors are a rare type of cancer. According to recent research, these tumors frequently display more aggressive behavior and are linked to endocrinopathies. It is noted that patient might have a better outcome and a longer survival time due to earlier detection and complete resection of malignancies.

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CONTEXT: Germline CDKN1B pathogenic variants result in multiple endocrine neoplasia type 4 (MEN4), an autosomal dominant hereditary tumor syndrome variably associated with primary hyperparathyroidism, pituitary adenoma, and duodenopancreatic neuroendocrine tumors. OBJECTIVE: To report the phenotype of 3 unrelated cases each with a unique germline CDKN1B variant (of which 2 are novel) and compare these cases with those described in the current literature. DESIGN/METHODS: Three case studies, including clinical presentation, germline, and tumor genetic analysis and family history. SETTING: Two tertiary University Hospitals in Sydney, New South Wales, and 1 tertiary University Hospital in Canberra, Australian Capital Territory, Australia. OUTCOME: Phenotype of the 3 cases and their kindred; molecular analysis and tumor p27kip1 immunohistochemistry. RESULTS: Family A: The proband developed multiglandular primary hyperparathyroidism, a microprolactinoma and a multifocal nonfunctioning duodenopancreatic neuroendocrine tumor. Family B: The proband was diagnosed with primary hyperparathyroidism from a single parathyroid adenoma. Family C: The proband was diagnosed with a nonfunctioning pituitary microadenoma and ectopic Cushing's syndrome from an atypical thymic carcinoid tumor. Germline sequencing in each patient identified a unique variant in CDKN1B, 2 of which are novel (c.179G > A, p.Trp60*; c.475G > A, p.Asp159Asn) and 1 previously reported (c.374_375delCT, p.Ser125*). CONCLUSIONS: Germline CDKN1B pathogenic variants cause the syndrome MEN4. The phenotype resulting from the 3 pathogenic variants described in this series highlights the heterogenous nature of this syndrome, ranging from isolated primary hyperparathyroidism to the full spectrum of endocrine manifestations. We report the first described cases of a prolactinoma and an atypical thymic carcinoid tumor in MEN4.

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BACKGROUND: The optimal extent of resection for a patient with a typical carcinoid tumor has been controversial. Studies suggest that wedge resection is an adequate oncologic operation for this tumor type. MATERIALS AND METHODS: We analyzed the National Cancer Database to determine an optimal surgical resection for patients with a typical carcinoid tumor. We determined the number of patients who had typical carcinoid tumors. We then performed a survival analysis of the propensity-matched group of patients having a pathologic stage I typical carcinoid tumor who had undergone anatomic pulmonary resection (lobectomy and segmentectomy) or wedge resection. RESULTS: A total of 10,265 patients met the inclusion and exclusion criteria: 8956 (87%) had a typical carcinoid tumor, while 1309 patients (13%) had an atypical carcinoid tumor. Among patients with typical carcinoid tumors, there were 7163 patients (80%) who underwent anatomic pulmonary resection (6755 patients with lobectomy, 94% and 408 patients with segmentectomy, 6%) and 1793 patients (20%) who underwent wedge resection. In this cohort, patients who had an anatomic resection had significantly improved 5-y survival compared to patients who had wedge resection (91% versus 84%, P < 0.001). In the propensity score-matched group of stage I typical carcinoid tumors (n = 1348), the patients who had an anatomic resection had significantly improved survival compared to patients who had wedge resections (89% versus 85%, P = 0.01) at 5 y. CONCLUSIONS: The anatomic resection compared to wedge resection was associated with improved survival in patients with early-stage typical carcinoid lung cancer. Surgically fit patients should be considered for anatomic resection for typical carcinoid tumors.

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Somatostatin receptor 2 (SSTR2) has been shown to be expressed in a subset of neuroendocrine tumors and carcinomas and plays a role in imaging studies and guiding therapy. Patients with tumors expressing SSTR2 may be successfully treated with somatostatin inhibitors or radiolabeled somatostatin analogues. We studied SSTR2 expression in TET and correlated it with 68Ga-DOTATATE PET/CT or 68Ga-DOTATATE PET/MR results and treatment outcome. An institutional database of TET was searched for thymoma, thymic carcinoma, and thymic neuroendocrine tumor (TNET) with available resection specimens. Cases were subtyped (2021 WHO classification) and staged (8th AJCC/UICC staging). A section was stained with anti-SSTR2 antibody (clone UMB1). Percent tumor cells with membranous staining was recorded if present in ≥1% of tumor cells. Medical records were searched for 68Ga-DOTATATE PET scans and treatment. Statistical analysis was performed. Eighty patients (1969-2021) with a median age of 61.3 years (range, 19.1-87.3) (37 males, 46.3%) had thymic carcinoma (N=33), TNET (N=7), or thymoma (N=40). SSTR2 expression was identified in 29 (of 80, 36.3%) TET including 2/2 (100%) small cell carcinomas, 2/5 (40.0%) atypical carcinoid tumors, 16/23 (69.6%) squamous cell carcinomas, 2/2 (100%) lymphoepithelial carcinomas, 1/1 (100%) adenosquamous carcinoma, and 6/40 (15.0%) thymomas. SSTR2 expression in ≥50% of tumor cells (vs 1-49%) was associated with younger age (p=0.023) and shorter recurrence/metastasis-free survival (p=0.007). 68Ga-DOTATATE PET scans (N=9) revealed a Krenning score of 3 in patients with atypical carcinoid tumor, small cell carcinoma, and squamous cell carcinoma (N=1 each) with SSTR2 expression in 95, 100, and 5% of tumor cells, respectively. Scans with Krenning scores of ≤2 (N=5) were seen in tumors with no SSTR2 expression in 80% of cases and a single atypical carcinoid tumor with SSTR2 expression in 10% of tumor cells. One scan resulted as "increased uptake" was in a patient with no SSTR2 expression. In conclusion, 68Ga-DOTATATE PET scans correlated with SSTR2 expression in TET in most patients and appeared to be useful to identify patients with TET who may be amenable to treatment with somatostatin analogues. Larger studies including more patients with 68Ga-DOTATATE PET scans are necessary to independently and prospectively validate our findings.

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Primary neuroendocrine tumors (NETs) are rare types of malignancies that can have a variety of presentations due to the ubiquitous distribution of neuroendocrine cells within the body. While mediastinal masses are not uncommon, NETs arising from the anterior mediastinum are rare and often originate from the thymus gland. A subset of NETs, atypical carcinoids, are more commonly seen in the lungs or gastrointestinal organs and often present with endocrine syndromes, chiefly Cushing's syndrome. The behavior of atypical carcinoid tumors within the mediastinum is often aggressive and clinical presentations vary widely. In this report, we describe a case of an atypical carcinoid tumor within the anterior mediastinum in an otherwise healthy young male with signs and symptoms of Cushing's syndrome.

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Primary neuroendocrine carcinomas (NECs) of the larynx and head and neck are an uncommon and heterogeneous group of neoplasms categorized by the 2017 WHO Classification of Head and Neck Tumors as: (a) well-differentiated (WD-NEC), (b) moderately-differentiated (MD-NEC), and (c) poorly-differentiated (PD-NEC) with small cell and large cell types. The classification incorporates elements of differentiation and grading and closely correlates to the 5-year disease specific survival of 100, 52.8, 19.3 and 15.3% for each diagnostic category. These survival rates are based on historical data limited by the previous lack of standard pathologic diagnostic criteria. The classification has de-emphasized the use of the terms "carcinoid" and "atypical carcinoid" as diagnostic categories. The adoption of uniform pathologic criteria for the classification of NECs of the head and neck should enable the design of high quality studies in order to understand the molecular alterations of these neoplasms.

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•We herein report a case of a 44-year-old Japanese woman diagnosed with stage IB1 atypical carcinoid of the uterine cervix.•After radical hysterectomy, she developed recurrence with aggressive clinical behavior, resistance to CPT-11 + cisplatin and paclitaxel + CBDCA chemotherapy.

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Primary pulmonary neoplasms in children are very rare, and because of their rarity, delays in diagnosis and treatment are common. Bronchial typical carcinoid accounts for 80% of primary malignant tumors, but, there are less than 40 proven cases in children reported in literature. Atypical carcinoids (AC) are the least common type of pulmonary carcinoids among children and to the best of our knowledge less than 10 cases have been reported in the English literature so far. Herein we present an extremely rare case of AC in a 15-year-old child and review the previously reported and published cases of pulmonary AC in pediatric age group.

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BACKGROUND: Few studies on how to diagnose pulmonary neuroendocrine tumors through morphometric analysis have been reported. In this study, we measured and analyzed the characteristic parameters of pulmonary neuroendocrine tumors using an image analyzer to aid in diagnosis. METHODS: Sixteen cases of typical carcinoid tumor, 5 cases of atypical carcinoid tumor, 15 cases of small cell carcinoma, and 51 cases of large cell neuroendocrine carcinoma were analyzed. Using an image analyzer, we measured the nuclear area, perimeter, and the major and minor axes. RESULTS: The mean nuclear area was 0.318±0.101 µm(2) in typical carcinoid tumors, 0.326±0.119 µm(2) in atypical carcinoid tumors, 0.314±0.107 µm(2) in small cell carcinomas, and 0.446±0.145 µm(2) in large cell neuroendocrine carcinomas. The mean nuclear circumference was 2.268±0.600 µm in typical carcinoid tumors, 2.408±0.680 µm in atypical carcinoid tumors, 2.158±0.438 µm in small cell carcinomas, and 3.247±1.276 µm in large cell neuroendocrine carcinomas. All parameters were useful in distinguishing large cell neuroendocrine carcinoma from other tumors (p=0.001) and in particular, nuclear circumference was the most effective (p=0.001). CONCLUSIONS: Pulmonary neuroendocrine tumors showed nuclear morphology differences by subtype. Therefore, evaluation of quantitative nuclear parameters improves the accuracy and reliability of diagnosis.

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BACKGROUND: Few studies on how to diagnose pulmonary neuroendocrine tumors through morphometric analysis have been reported. In this study, we measured and analyzed the characteristic parameters of pulmonary neuroendocrine tumors using an image analyzer to aid in diagnosis. METHODS: Sixteen cases of typical carcinoid tumor, 5 cases of atypical carcinoid tumor, 15 cases of small cell carcinoma, and 51 cases of large cell neuroendocrine carcinoma were analyzed. Using an image analyzer, we measured the nuclear area, perimeter, and the major and minor axes. RESULTS: The mean nuclear area was 0.318+/-0.101 microm2 in typical carcinoid tumors, 0.326+/-0.119 microm2 in atypical carcinoid tumors, 0.314+/-0.107 microm2 in small cell carcinomas, and 0.446+/-0.145 microm2 in large cell neuroendocrine carcinomas. The mean nuclear circumference was 2.268+/-0.600 microm in typical carcinoid tumors, 2.408+/-0.680 microm in atypical carcinoid tumors, 2.158+/-0.438 microm in small cell carcinomas, and 3.247+/-1.276 microm in large cell neuroendocrine carcinomas. All parameters were useful in distinguishing large cell neuroendocrine carcinoma from other tumors (p=0.001) and in particular, nuclear circumference was the most effective (p=0.001). CONCLUSIONS: Pulmonary neuroendocrine tumors showed nuclear morphology differences by subtype. Therefore, evaluation of quantitative nuclear parameters improves the accuracy and reliability of diagnosis.

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Pulmonary neuroendocrine tumors are frequently encountered as small biopsy and resection specimens. Although the World Health Organization (WHO) classification is used as a diagnostic framework globally and in daily practice, it is not without controversy and practical difficulties. The WHO criteria for pulmonary neuroendocrine tumors are reviewed with the recognition that the definitions are based on resected specimens, which are often not the usual clinical circumstances. A practical approach is emphasized, and the differential diagnosis is discussed with particular attention to the context in which diagnostic difficulties are most frequently encountered, such as small biopsies and frozen sections.

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Carcinoid tumors arise from enterochromaffin cells of neural crest origin. Rectal carcinoid tumors make up 1 to 2% of all rectal tumors. Approximately 50% of rectal carcinoid tumors are found incidentally on routine endoscopy, and they are asymtomatic. Rectal carcinoid is easily diagnosed by the characteristic submucosal tumor with yellowish color. There have been, however, some rare cases where the rectal carcinoid tumor was not easily diagnosed because of its atypical feature. We report a case of atypical rectal carcinoid tumor misdiagnosed as rectal cancer on endoscopic finding: this atypical gross morphology on endoscopy may be due to atypical histopathologic findings.

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Ulcerative colitis is a chronic inflammatory bowel disease manifested by diffuse continuous mucosal and submucosal inflammation. Adenocarcinoma of the colon may be complicated in the long-standing, extensive ulcerative colitis. But the case of an atypical carcinoid tumor arising in the chronic ulcerative colitis has been very rarely reported. A case was experienced involving a 54-year-old woman with chronic ulcerative pancolitis that was complicated by an atypical carcinoid tumor of the sigmoid colon. A small, flat, elevated lesion was found at the sigmoid colon, 8 years after the initial diagnosis of ulcerative colitis had been made. The microscopic finding of the lesion showed the nest of moderately differentiated, medium sized cells with large nuclei. The immunohistochemical stains for cytokeratin, NSE, chromogranin A, and synaptophysin were positive.The patient was treated with a total colectomy accompanied with an ileostomy, and is now in a very favor able state of recovery.

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Two cases of pulmonary atypical carcinoid tumor were diagnosed by fine needle aspiration cytology. Although the cytologic features of atypical carcinoid tumor have been relatively well described, it is easy to confuse atypical carcinoid tumor with typical carcinoid tumor, small cell carcinoma and adenocarcinoma of the lung. Atypical carcinoid tumor has been recognized as a distinct variant of pulmonary neuroendocrine carcinoma, with characteristic histopathologic and clinical features that separate it from both carcinoid and small cell carcinoma. The distinction of atypical carcinoid tumor from small cell carcinoma has important prognostic and therapeutic implications. The cytologic characteristics of atypical carcinoid tumor included polygonal to fusiform cells with a variable amount of lacy cytoplasm, oval nuclei with coarsely dispersed chromatin and frequent nucleoli, and mild pleomorphism. The malignant cells were arranged either in acinus-like clusters or in epithelial sheets.

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Bronchial carcinoid tumors are uncommon, constituting approximately 5% of all primary lung cancers. Carcinoid tumors belong to the calss of neuroendocrine tumors that consist of cells that can store and secrete neuramines and neuropeptides. Neuroendocrine tumors of the lung include three pathologic types: a low-grade malignancy, the so-called "typical carcinoid", a more aggressive tumor, the "atypical carcinoid" and the most aggressive malignant neoplasm, the small-cell carcinoma. Atypical carcinoid tumor, have a higher malignant potential, is more commonly peripheral than is the typical carcinoid tumor. Histologic features would characterize a carcionoid as hitologically atypical: increased mitotic activity, pleomorphism and irregularity of neuclei with promonent nucleoli, hyperchromatin, and abnormal nuclear-cytoplasmic ratio, areas of increased cellularity with disorganization of architecture, and areas of tumor necrosis. Metastatic involvement of regional lymph nodes and distant organ is common. The prognosis is related to size of the tumor, typical or atypical appearance, endoluminal or extraluminal growth, vascular invasion, node metastasis. Pulmonary resection is the treatement of choice for bronchial carcinoid. We experienced one case of bronchopulmonary atypical carcinoid tumor. In the case, radiologic study showed solitary lung mass with liver metastasis and the level of 5-HIAA was elevated. There was no history of cutaneous flushing, diarrhea, valvular heart disease. The authors reported a case of brochopulmonary atypical carcinoid tumor with review of literatures.

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