Context Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are responsible for a subset of familial isolated pituitary adenoma (FIPA) cases and sporadic pituitary neuroendocrine tumors (PitNETs). Objective To compare prospectively diagnosed AIP mutation-positive (AIPmut) PitNET patients with clinically presenting patients and to compare the clinical characteristics of AIPmut and AIPneg PitNET patients. Design 12-year prospective, observational study. Participants & Setting We studied probands and family members of FIPA kindreds and sporadic patients with disease onset ≤18 years or macroadenomas with onset ≤30 years (n = 1477). This was a collaborative study conducted at referral centers for pituitary diseases. Interventions & Outcome AIP testing and clinical screening for pituitary disease. Comparison of characteristics of prospectively diagnosed (n = 22) vs clinically presenting AIPmut PitNET patients (n = 145), and AIPmut (n = 167) vs AIPneg PitNET patients (n = 1310). Results Prospectively diagnosed AIPmut PitNET patients had smaller lesions with less suprasellar extension or cavernous sinus invasion and required fewer treatments with fewer operations and no radiotherapy compared with clinically presenting cases; there were fewer cases with active disease and hypopituitarism at last follow-up. When comparing AIPmut and AIPneg cases, AIPmut patients were more often males, younger, more often had GH excess, pituitary apoplexy, suprasellar extension, and more patients required multimodal therapy, including radiotherapy. AIPmut patients (n = 136) with GH excess were taller than AIPneg counterparts (n = 650). Conclusions Prospectively diagnosed AIPmut patients show better outcomes than clinically presenting cases, demonstrating the benefits of genetic and clinical screening. AIP-related pituitary disease has a wide spectrum ranging from aggressively growing lesions to stable or indolent disease course.

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International Journal of Case Reports and Images (IJCRI) is an international, peer reviewed, monthly, open access, online journal, publishing high-quality, articles in all areas of basic medical sciences and clinical specialties.Aim of IJCRI is to encourage the publication of new information by providing a platform for reporting of unique, unusual and rare cases which enhance understanding of disease process, its diagnosis, management and clinico-pathologic correlations. IJCRI publishes ABSTRACTDiffuse gastric carcinoma (DGC) is histologically characterized by increased intracellular mucin production, leading to a "signet ring cell differentiation" in tumor cells. Signet-ring tumor cells are often rapidly progressive in nature, with tumor cells diffusely infiltrating the stomach, leading to desmoplasia and thickening of the gastric wall (linitis plastica). Like intestinal gastric carcinoma (IGC), DGC can be associated with H. pylori infections, among other environmental factors such as smoking, alcohol, and socioeconomic status. DGC, however, is characterized by a higher mortality and poorer prognosis than IGC due to its rapid progression, higher metastatic potential, and delayed diagnosis. Common presentation in those with DGC include weight loss, generalized abdominal pain, nausea and vomiting. In our specific case, the rare presentation of DGC with metastasis to the peritoneum, small intestine, colon, left ovary and fallopian tube can be appreciated. A 54-year-old female presented with consistent, generalized abdominal pain, leading to an exploratory laparotomy for suspected adhesions. Examination revealed numerous tumors throughout the abdomen and pelvis, with omental and mesenteric implants. Multiple biopsies of the ovaries, mesenteric implants, and omental implants revealed welldefined glands lined by moderately atypical nuclei and focal luminal necrosis. Diagnosis of DGC with metastatic spread and Krukenberg tumors (KT) was made and treatment was initiated with palliative chemotherapy. DGC with KT is remarkably rare, as only 1% of metastatic ovarian tumors result from gastric primaries. The grim prognosis is due to rapid disease progression, advanced stage at presentation, and late diagnosis. As such, effective treatment for this subset of patients cannot be initiated.(This page in not part of the published article.)

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