Gastrointestinal neuroendocrine tumors in 2020

Gastrointestinal neuroendocrine tumors are rare slow-growing tumors with distinct histological, biological, and clinical characteristics that have increased in incidence and prevalence within the last few decades. They contain chromogranin A, synaptophysin and neuron-specific enolase which are necessary for making a diagnosis of neuroendocrine tumor. Ki-67 index and mitotic index correlate with cellular proliferation. Serum chromogranin A is the most commonly used biomarker to assess the bulk of disease and monitor treatment and is raised in both functioning and non-functioning neuroendocrine tumors. Most of the gastrointestinal neuroendocrine tumors are non-functional. World Health Organization updated the classification of neuroendocrine tumors in 2017 and renamed mixed adenoneuroendocrine carcinoma into mixed neuroendocrine neoplasm. Gastric neuroendocrine tumors arise from enterochromaffin like cells. They are classified into 4 types. Only type I and type II are gastrin dependent. Small intestinal neuroendocrine tumor is the most common small bowel malignancy. More than two-third of them occur in the terminal ileum within 60 cm of ileocecal valve. Patients with small intestinal neuroendrocrine tumors frequently show clinical symptoms and develop distant metastases more often than those with neuroendocrine tumors of other organs. Duodenal and jejuno-ileal neuroendocrine tumors are distinct biologically and clinically. Carcinoid syndrome generally occurs when jejuno-ileal neuroendocrine tumors metastasize to the liver. Appendiceal neuroendocrine tumors are generally detected after appendectomy. Colonic neuroendocrine tumors generally present as a large tumor with local or distant metastasis at the time of diagnosis. Rectal neuroendocrine tumors are increasingly being diagnosed since the implementation of screening colonoscopy in 2000. Gastrointestinal neuroendocrine tumors are diagnosed and staged by endoscopy with biopsy, endoscopic ultrasound, serology of biomarkers, imaging studies and functional somatostatin scans. Various treatment options are available for curative and palliative treatment of gastrointestinal neuroendocrine tumors.     

A Recurrence Predictive Model for Thymic Tumors and Its Implication for Postoperative Management: a Chinese Alliance for Research in Thymomas Database Study

ObjectiveOur aim was to investigate appropriate postoperative management based on the risk of disease recurrence in thymic epithelial tumors after complete resection.MethodsThe Chinese Alliance for Research in Thymomas retrospective database was reviewed. Patients having stage I to IIIa tumors without pretreatment and with complete resection were included. Clinicopathologic variables with statistical significance in the multivariate Cox regression were incorporated into a nomogram for building a recurrence predictive model.ResultsA total of 907 cases, including 802 thymomas, 88 thymic carcinomas, and 17 neuroendocrine tumors, were retrieved between 1994 and 2012. With a median follow-up of 52 months, the 10-year overall survival rate was 89.5%. Distant and/or locoregional recurrences were noted in 53 patients (5.8%). The nomogram model revealed histologic type and T stage as independent predictive factors for recurrence, with a bootstrap-corrected C-index of 0.86. On the basis of this model, patients with T1 thymomas or T2 or T3 type A, AB, or B1 thymomas had a significantly lower incidence of recurrence (low-risk group) than those with T2 or T3 type B2 or B3 thymomas and all thymic carcinomas and neuroendocrine tumors (high-risk group) (2.7% versus 20.1% [p < 0.001]). In the high-risk group, more than half of the recurrences (55.2% [16 of 29]) were seen within the first 3 postoperative years, whereas all recurrences but one were recorded within 6 years after surgery. Recurrence occurred quite evenly over 10 postoperative years in the low-risk group.ConclusionsA 6-year active surveillance should be considered in high-risk patients regardless of adjuvant therapy. For low-risk patients, annual follow-up may be sufficient. Studies examining postoperative adjuvant therapies would be plausible in high-risk patients.     

Cutaneous neoplasms composed of melanoma and carcinoma: A rare but important diagnostic pitfall and review of the literature

We report two cases of combined cutaneous tumors composed of melanoma and carcinoma. The first tumor presented as a 5-mm pink-blue macule over the right zygomatic arch in an 85-year-old man. Shave biopsy and immunohistochemical studies revealed that the tumor was composed of melanoma (highlighted by SOX10 and MART-1, with high Ki-67 proliferative index) intermixed with nodular basal cell carcinoma (highlighted by pan-cytokeratin and Ber-EP4). The neoplastic melanocytes were confined to the basal cell carcinoma nodules, and a diagnosis of combined melanoma in situ and basal cell carcinoma was rendered. After therapeutic excision, the patient was disease-free at 9 months after the initial diagnosis. The second tumor presented as a 6-mm pink-brown crusted papule on the right forehead in an 89-year-old man. Shave biopsy and immunohistochemical studies revealed that the tumor was composed of malignant melanoma (MM) (highlighted by S100 and MART-1) intermixed with squamous cell carcinoma (SCC) (highlighted by cytokeratin and p63), and a diagnosis of combined MM-SCC was rendered. These two cases highlight the importance of recognizing these rare types of melanocytic-epithelial cutaneous neoplasms to arrive at an accurate diagnosis that may inform appropriate disease stage and therapy.     

Multidrug resistant gastrointestinal stromal tumor with multiple metastases to the skin and subcutaneous soft tissue: A case report and review of literature

Gastrointestinal stromal tumors (GISTs) are mesenchymal neoplasms which account for less than 1% of all gastrointestinal malignancies. Of all the extra-abdominal metastases of GIST, superficial soft tissue metastases are the rarest. Previous reports have found success with sunitinib in imatinib-resistant GIST, but we report a certain wild-type KIT mutation GIST with cutaneous and subcutaneous metastasis that was unresponsive to multiple tyrosine kinase inhibitor (TKI) treatments. This case illustrates that knowing the specific type of KIT mutations may uncover resistance of certain GIST's to TKIs, necessitating more targeted and alternative therapy.     

Case for diagnosis. Single-digit clubbing

A 58-year-old female patient presented with a single-digit clubbing on the second finger of her right hand two years previously. After investigation with imaging and incisional biopsy, superficial acral fibromyxoma was diagnosed. A brief review on single-digit clubbing and its causes is presented, focusing on superficial acral fibromyxoma.     

Atenolol oral en el manejo del hemangioma infantil: serie de casos de 46 pacientes

Propranolol, a non-selective beta-blocker, remains the first line of treatment for problematic infantile hemangioma. However, although rarely, a subset of patients experience undesirable side effects, raising interest in other selective beta-blockers. We present a large case series of 46 infants treated successfully with oral atenolol, a selective beta-1 blocker.     

实时超声联合神经导航监测在颅内肿瘤显微手术中的应用

目的 探讨实时超声联合神经导航在颅内肿瘤显微手术中定位及实时监测的作用。方法 筛选空军军医大学西京医院神经外科2014年10月至2016年7月收治的35例术中实时超声监测联合神经导航辅助显微手术切除的颅内肿瘤作为观察组，并以同期35例神经导航引导但未行术中实时超声监测的颅内肿瘤作为对照组。结果 观察组肿瘤全切率[91.42%（32/35）]与对照组[82.85%（29/35）]无明显差异（P<0.05）。观察组手术时间[（284.1±20.58）min]较对照组[（306.5±11.92）min]明显缩短（P<0.05）。术前，观察组KPS评分[（58.74±2.076）分]与对照组[（56.34±1.381）分]无明显差异（P>0.05）；术后1周，观察组KPS评分[（83.21±6.217）分]和对照组[（76.49±4.638）分]较术前均明显提高，而且，观察组明显高于对照组（P<0.05）。两组术后均未发生严重并发症（如出血、感染等），围手术期没有死亡病例。术后3个月门诊复查，均未见肿瘤复发。结论 术中超声可精准定位并实时引导，监测肿瘤残余，提高手术效率并最大限度地保护神经功能。     

Intracranial thrombosed anastomosing hemangioma: Case report

An anastomosing hemangioma is a relatively new diagnosis of a benign vascular lesion that is typically found in the genitourinary tract. On imaging, anastomosing hemangiomas have a broad differential diagnosis and can resemble malignant lesions such as angiosarcoma. Here we present a case of a 33-year-old male with seizures who on imaging was found to have a presumed recurrent intracranial meningioma. After surgical resection of his lesion, this case was pathologically diagnosed as having anastomosing hemangioma. To our knowledge, this is the first report of a case of a thrombosed anastomosing hemangioma located at intracranial and intradural region.     

Primary epithelial-myoepithelial carcinoma of the pituitary gland

Primary salivary gland-like tumors of the sella are rare and often challenging to diagnose. They reportedly derive from serous and mucinous glands that remain trapped in the infundibulum during embryogenesis. We report a 68-year-old man who presented with partial left third cranial nerve palsy, visual loss in the left eye without visual field defects, headache, weight loss and reduced muscle bulk. Neuroimaging studies demonstrated a solid and cystic, avidly enhancing lesion expanding the pituitary fossa and extending to the left cavernous sinus. The patient underwent craniotomy and the tissue removed showed features of epithelial-myoepithelial carcinoma similar to the salivary gland, skin and breast counterpart. No primary tumor was found outside the sella. The lesion behaved aggressively despite radio-chemotherapy and the patient died 22 months from the onset. The tumor showed a novel TP53 in-frame deletion (Gly154del) while no variants were found in H-RAS hotspot regions (codons 12, 13 and 61). Our report expands the spectrum of salivary gland-like tumors primarily occurring in the sella and emphasizes the need for specialist review of rare, non-neuroendocrine tumors of the pituitary and sella regions.