ABSTRACT
Amyloidosis is an underdiagnosed and challenging disease with clinical and etiologic heterogenicity, requiring amyloid subtyping because of the distinctive prognostic and therapeutic impact. Transthyretin amyloidosis is more common in elderly patients, and in such population undergoing cardiovascular surgery, it could be worthy to be investigated. We herein describe an unusual case of transthyretin-related vascular amyloidosis in an 81-year-old man undergoing coronary artery bypass surgery. Diagnosis done after histology showed an intimal eccentric thickening in a remnant segment of the right saphenous vein that was harvested for grafting. Transthyretin-related amyloidosis was demonstrated by histochemical Congo Red staining under polarized light and by immunohistochemistry, corresponding to the intimal thickening. The thorough histological analysis was crucial for the diagnosis of a previously unknown transthyretin-related vascular amyloidosis.
Subject(s)
Amyloid Neuropathies, Familial/diagnosis , Coronary Artery Bypass , Saphenous Vein/transplantation , Tissue and Organ Harvesting , Vascular Diseases/diagnosis , Aged, 80 and over , Amyloid/analysis , Amyloid Neuropathies, Familial/metabolism , Amyloid Neuropathies, Familial/pathology , Biomarkers/analysis , Biopsy , Fatal Outcome , Humans , Immunohistochemistry , Male , Neointima , Prealbumin/analysis , Saphenous Vein/chemistry , Saphenous Vein/pathology , Treatment Outcome , Vascular Diseases/metabolism , Vascular Diseases/pathologyABSTRACT
Neuroendocrine tumors (NETs) arise from the cells present throughout the diffuse endocrine system. These neoplasms were previously regarded as rare, but in fact are increasing in incidence (3.65/100 000 individuals/y). Enhancer of zeste homolog 2 (EZH2) plays a crucial role in cell cycle regulation, and it was reported to be overexpressed in several tumors. The aim of the study was to investigate EZH2 expression, also related with proliferation rate, and p53 expression in NETs of the intestine encompassing a group of tumors primary to the stomach, appendix, small intestine, and colon. The specimens from 33 patients with neuroendrocrine tumors were investigated by immunohistochemistry for EZH2, p53, and Ki-67. Only 10 of 33 (30.3%) cases showed high EZH2 expression. High EZH2 levels significantly associated with elevated proliferation rates (P=0.0012) and with elevated percentage of positive cells for p53 (P=0.011). Our results suggest an association between p53 and the EZH2 pathway in NETs. EZH2 could represent a potential target antigen in cancer immunotherapy.
Subject(s)
Enhancer of Zeste Homolog 2 Protein/metabolism , Intestinal Neoplasms/metabolism , Neuroendocrine Tumors/metabolism , Cell Line, Tumor , Female , Humans , Immunohistochemistry , Intestinal Neoplasms/pathology , Male , Middle Aged , Neuroendocrine Tumors/pathology , Tumor Suppressor Protein p53/metabolismABSTRACT
RATIONALE: Primitive small cell carcinoma of the ureter is extremely rare, in this case report is meticulously described its aggressive clinical course and the pathological clues that help with the diagnosis. Also, a detailed table with the clinico-pathological features of analogous case reports in literature is provided. PATIENT CONCERNS: A 79-year-old female presented with gross hematuria and flank pain. DIAGNOSES: Small cell carcinoma of the ureter. The surgical specimen showed a mixed histology of small cell carcinoma and transitional cell carcinoma; the common neuroendocrine markers (chromogranin A, synaptophysin, CD56) were positive, and vimentin and thyroid transcription factor 1 were negative. The patient had an advanced stage at presentation with regional nodes involvement (pT3N1). INTERVENTIONS: Segmental ureterectomy was performed but it was only possible to administer 1 cycle of platinum-based adjuvant chemotherapy due to the rapid decline of her clinical parameters. OUTCOMES: The disease rapidly spread locally and metastasized. LESSON: The clinicians must be aware of this aggressive tumor with silent clinical course and advanced stages at presentation.
