Colorectal mixed adenoneuroendocrine carcinomas and neuroendocrine carcinomas are genetically closely related to colorectal adenocarcinomas.

Colorectal mixed adenoneuroendocrine carcinomas are rare and clinically aggressive neoplasms with considerable morphological heterogeneity. Data on their genomic characteristics and molecular associations to either conventional colorectal adenocarcinomas or poorly differentiated neuroendocrine neoplasms is still scarce, hampering optimized patient treatment and care. Tissue from 19 colorectal mixed adenoneuroendocrine carcinomas and eight colorectal poorly differentiated neuroendocrine neoplasms (neuroendocrine carcinomas) was microdissected and subjected to next-generation sequencing using a colorectal adenocarcinoma-specific panel comprising 196 amplicons covering 32 genes linked to colorectal adenocarcinoma, and poorly differentiated neuroendocrine neoplasm tumorigenesis.

Nasal Fibrolipomatous Hamartoma, an Idiosyncratic Connective Tissue Malformation in an Infant.

We describe a congenital mass in the nasopharynx of an infant presenting with dyspnea and feeding difficulties. Magnetic resonance imaging demonstrated 2 separate polypoid nasal cavity masses that were endoscopically resected. Histologically, both lesions were composed of mature adipose tissue with broad fibrous bands and several foci of brown fat.

Leiomyosarcoma of the parapharyngeal space: a very rare entity.

Leiomyosarcoma of the head and neck is very rare, as only about 100 cases have been reported; of these, only 3 cases have been previously reported in the parapharyngeal space. We report the fourth such case, and we review the features of this entity. The patient was an 84-year-old woman who presented to the emergency department for treatment of an 18-month history of right-sided headache, a 6-month history of right-sided hearing loss and nasal obstruction, and a 2-month history of dysphagia.

Hormonally defined pancreatic and duodenal neuroendocrine tumors differ in their transcription factor signatures: expression of ISL1, PDX1, NGN3, and CDX2.

We recently identified the transcription factor (TF) islet 1 gene product (ISL1) as a marker for well-differentiated pancreatic neuroendocrine tumors (P-NETs). In order to better understand the expression of the four TFs, ISL1, pancreatico-duodenal homeobox 1 gene product (PDX1), neurogenin 3 gene product (NGN3), and CDX-2 homeobox gene product (CDX2), that mainly govern the development and differentiation of the pancreas and duodenum, we studied their expression in hormonally defined P-NETs and duodenal (D-) NETs. Thirty-six P-NETs and 14 D-NETs were immunostained with antibodies against the four pancreatic hormones, gastrin, serotonin, calcitonin, ISL1, PDX1, NGN3, and CDX2.

The clinical spectrum of fetal Niemann-Pick type C.

Niemann-Pick type C (NPC) disease is a lysosomal neurovisceral storage disease. The spectrum of the clinical presentation as well as the severity of the disease and the age of presentation may be highly variable. Fetal presentation is rarely described in the literature.

Chorioangioma and its severe infantile sequelae: case report.

Objective: This case report describes a rare clinical presentation of chorioangioma diagnosed prenatally because of raised-maternal serum (MS) alpha-fetoprotein.

Methods: A thirty-year-old woman gravida 2, para 1 was referred to the ultrasound unit at 18 weeks of gestation because of abnormal MS triple-test results. This included AFP level of 14.