Subject(s)
Lipoblastoma , Humans , Osteogenesis , Peptide Elongation Factor 1 , DNA-Binding ProteinsABSTRACT
INTRODUCTION: Epithelioid angiosarcoma is a rare soft tissue sarcoma with a poor prognosis. We report two cases of patients who presented with a history of lower back pain, inflammatory signs and weight loss 5 and 6 years after endovascular aortic repair (EVAR) of an elective infrarenal abdominal aortic aneurysm (AAA). Imaging suggested graft infection but tissue samples revealed an epithelioid angiosarcoma. The objective is to report the clinical presentation, investigative modalities and immunohistochemical findings of an angiosarcoma after EVAR. PATIENTS AND METHODS: Two cases are described of an angiosarcoma of the aorta after EVAR. A literature search using PubMed, Embase and Web of Science was performed in English about angiosarcoma after EVAR published between 2007 and 2021. Relevant reports were selected and analysed. RESULTS: Fifteen case reports were identified, including the current two cases. Time to tumour detection after EVAR ranged from 6 to 120 months with a mean interval of 68 months. Most patients underwent endovascular repair of an AAA (13/15). Males (13 male/2 female patients) were predominant with a median age of 72 years (IQR 68-78 years). Over half of the patients had metastases at the time of diagnosis (9/15), most frequently in bones and liver. CONCLUSION: Diagnosis of angiosarcoma after EVAR remains challenging due to indistinctive clinical and radiological findings mimicking graft infection or endoleak. Angiosarcoma should be included in the differential diagnosis in patients previously treated with EVAR presenting with unintended weight loss, abdominal back pain and contrast enhancement of the aortic wall.AbbreviationsAAAabdominal aortic aneurysmCTAcomputed tomography angiographyCRPc-reactive proteinEVARendovascular aortic repairESRerythrocyte sedimentation rateFDGfluoro-deoxyglucoseMRImagnetic resonance imagingMeSHmedical subject headings.
Subject(s)
Aortic Aneurysm, Abdominal , Blood Vessel Prosthesis Implantation , Endovascular Procedures , Hemangiosarcoma , Humans , Male , Female , Aged , Endovascular Aneurysm Repair , Blood Vessel Prosthesis Implantation/adverse effects , Blood Vessel Prosthesis Implantation/methods , Aortic Aneurysm, Abdominal/diagnosis , Aortic Aneurysm, Abdominal/surgery , Aortic Aneurysm, Abdominal/complications , Treatment Outcome , Hemangiosarcoma/diagnosis , Hemangiosarcoma/etiology , Hemangiosarcoma/surgery , Endovascular Procedures/adverse effects , Endovascular Procedures/methods , Time Factors , Postoperative Complications/etiology , Endoleak/diagnosis , Endoleak/etiology , Endoleak/surgery , Retrospective Studies , Risk FactorsABSTRACT
We present a long-term follow-up in a 17-year-old girl with DGAT1-related diarrhea, an autosomal recessive disorder characterized by impaired triglyceride absorption. Neonatal presentation included severe congenital diarrhea, protein-losing enteropathy, and failure to thrive requiring total parenteral nutrition. Duodenal biopsies revealed apoptotic enteropathy and acute inflammation with the presence of macrophages and Touton giant cells, related to the intake of fat. She was able to switch to enteral nutrition on a fat-free diet. However, at age 10, she developed gluten-induced enteropathy and then IBD-like inflammation 5 years later. Immunohistochemistry was able to confirm the diagnosis, while DGAT1 sequencing remained inconclusive. This highlights the role of histopathology and immunohistochemistry, despite the increasing importance of genetic analysis in the diagnostic work-up. This report also illustrates that parenteral nutrition weaning is possible in DGAT1-related diarrhea, but gut barrier dysfunction might increase the risk of autoimmune intestinal disease.
Subject(s)
Autoimmune Diseases , Celiac Disease , Inflammatory Bowel Diseases , Protein-Losing Enteropathies , Infant, Newborn , Female , Humans , Child , Adolescent , Diarrhea/etiology , Protein-Losing Enteropathies/diagnosis , Protein-Losing Enteropathies/genetics , Inflammation , Diacylglycerol O-Acyltransferase/geneticsABSTRACT
Mesonephric-like adenocarcinomas (MLA) are rare neoplasms arising in the uterine corpus and ovary which have been added to the recent 2020 World Health Organization Classification of Female Genital Tumors. They have similar morphology and immunophenotype and exhibit molecular aberrations similar to cervical mesonephric adenocarcinomas. It is debated as to whether they are of mesonephric or Mullerian origin. We describe the clinical, pathologic, immunohistochemical, and molecular features of 5 cases of extrauterine mesonephric-like proliferations (4 ovary, 1 extraovarian), all with novel and hitherto unreported features. These include an origin of MLA in extraovarian endometriosis, an association of ovarian MLA with high-grade serous carcinoma, mixed germ cell tumor and mature teratoma, and a borderline ovarian endometrioid tumor exhibiting mesonephric differentiation. Four of the cases exhibited a KRAS variant and 3 also a PIK3CA variant. In reporting these cases, we expand on the published tumor types associated with MLA and report for the first time a borderline tumor exhibiting mesonephric differentiation. We show the value of molecular testing in helping to confirm a mesonephric-like lesion and in determining the relationship between the different neoplastic components. We provide further evidence for a Mullerian origin, rather than a true mesonephric origin, in some of these cases. We also speculate that in the 2 cases associated with germ cell neoplasms, the MLA arose out of the germ cell tumor.
Subject(s)
Adenocarcinoma/pathology , Mullerian Ducts/pathology , Ovarian Neoplasms/pathology , Peritoneal Neoplasms/pathology , Wolffian Ducts/pathology , Adenocarcinoma/chemistry , Adenocarcinoma/genetics , Adenocarcinoma/therapy , Adult , Aged , Aged, 80 and over , Biomarkers, Tumor/analysis , Biomarkers, Tumor/genetics , Cell Differentiation , Cell Proliferation , Class I Phosphatidylinositol 3-Kinases/genetics , Female , Humans , Mesocolon/chemistry , Mesocolon/pathology , Middle Aged , Mullerian Ducts/chemistry , Mutation , Ovarian Neoplasms/chemistry , Ovarian Neoplasms/genetics , Ovarian Neoplasms/therapy , Peritoneal Neoplasms/chemistry , Peritoneal Neoplasms/genetics , Peritoneal Neoplasms/therapy , Proto-Oncogene Proteins p21(ras)/genetics , Treatment Outcome , Wolffian Ducts/chemistryABSTRACT
Mesonephric-like adenocarcinoma is a recently described rare neoplasm occurring in the uterine corpus and ovary. This under-recognized subtype of carcinoma can be very challenging to diagnose. In mesonephric adenocarcinoma a variety of growth patterns can be present within the same tumor, as a result of which they can be misinterpreted and diagnosed as low-grade endometrioid adenocarcinoma, clear cell carcinoma, or even serous carcinoma and carcinosarcoma. We report a case of mesonephric-like adenocarcinoma misdiagnosed as a low-grade endometrioid endometrial adenocarcinoma that had an early local recurrence and metastasized to the liver and the lungs. Histopathological, immunohistochemical and molecular analysis were performed and compared to published literature, providing a comprehensive overview of the current knowledge. Databases (Pubmed, Web of Science, Google Scholar) were searched with a combination of the following search terms: mesonephric-like, mesonephric, adenocarcinoma, carcinoma, uterine body, uterine corpus, endometrium. Mesonephric-like adenocarcinoma is a difficult-to-diagnose entity. Advanced diagnostics, including improved morphologic, immunohistochemical and molecular knowledge can help develop new therapeutic strategies against this specific subtype of endometrial cancer with an aggressive clinical behavior.
