ABSTRACT
BACKGROUND: Isocitrate dehydrogenase (IDH) catalyzes the oxidative decarboxylation of isocitrate to yield alpha-ketoglutarate (alpha-KG) with production of reduced nicotinamide adenine dinucleotide (NADH). Dysfunctional IDH leads to reduced production of alpha-KG and NADH and increased production of 2-hydroxyglutarate, an oncometabolite. This results in increased oxidative damage and stabilization of hypoxia-inducible factor alpha, causing cells to be prone to tumorigenesis. METHODS: This study investigated IDH mutations in 61 Ewing sarcoma family tumors (ESFTs), using a pentose nucleic acid clamping method and direct sequencing. RESULTS: We identified four cases of ESFTs harboring IDH mutations. The number of IDH1 and IDH2 mutations was equal and the subtype of IDH mutations was variable. Clinicopathologic analysis according to IDH mutation status did not reveal significant results. CONCLUSIONS: This study is the first to report IDH mutations in ESFTs. The results indicate that ESFTs can harbor IDH mutations in previously known hot-spot regions, although their incidence is rare. Further validation with a larger case-based study would establish more reliable and significant data on prevalence rate and the biological significance of IDH mutations in ESFTs.
Subject(s)
Humans , Carcinogenesis , Constriction , Decarboxylation , Incidence , Isocitrate Dehydrogenase , NAD , Prevalence , Sarcoma, EwingABSTRACT
Papillary thyroid carcinoma with nodular fasciitis-like stroma (PTC-NFS) is a rare variant of PTC. The term 'PTC with fibromatosis-like stroma' has been used as a synonym to describe this variant. It is characterized by extensive proliferation of fibroblasts and myofibroblasts in the tumor stroma, which occurs in up to 80% of the tumors. We herein describe a case of PTC-NFS which developed in a 49-year-old woman with the demonstration of findings of ultrasonography, fine needle aspiration cytology and histological examination of the lesion. To characterize the stromal components, we investigated the expression of several immunohistochemical markers which have been shown to be expressed differently in nodular fasciitis (NF) and fibromatosis (FM). The immunostaining results demonstrated nuclear and cytoplasmic accumulation of beta-catenin, cytoplasmic transforming growth factor-beta expression and nuclear Smad expression in the stromal cells, suggesting that the stromal cells in this case have similar molecular profiles to those of FM rather than NF.
Subject(s)
Female , Humans , beta Catenin , Biopsy, Fine-Needle , Carcinoma , Carcinoma, Papillary , Cytoplasm , Factor IX , Fasciitis , Fibroblasts , Fibroma , Myofibroblasts , Stromal Cells , Thyroid Gland , Thyroid NeoplasmsABSTRACT
A uterus-like mass (ULM) is a central cavity lined by endometrial glands and stroma and surrounded by thick-walled smooth muscles. To date, 31 cases of ULM have been reported in the English literature. ULM typically presents as a single mass and is located in the pelvic cavity. We report here a very rare case of multiple extrapelvic ULMs involving the cecum, descending colon, and mesocolon. After extensive literature research, our case appears to be the first case of multiple ULMs found in extrapelvic sites and the first case of ULM in the colon. The present case suggests that ULM should be included in the differential diagnosis of colonic submucosal tumors in female patients with chronic abdominal pain or menstruation-associated symptoms.
Subject(s)
Female , Humans , Abdominal Pain , Adenomyoma , Cecum , Colon , Colon, Descending , Diagnosis, Differential , Mesocolon , Muscle, SmoothABSTRACT
No abstract available.
ABSTRACT
Solitary pancreatic metastasis of esophageal cancer is extremely rare. We report the case of a 58-year-old male admitted with esophageal cancer. Additional asymptomatic solitary hepatic and pancreatic masses were observed in the staging work-up for esophageal cancer. The hepatic mass was confirmed as a primary hepatocellular carcinoma with an ultrasound-guided needle biopsy. An esophagectomy with a distal pancreatectomy and radiofrequency ablation for hepatocellular carcinoma were performed. Histologically, the pancreatic mass was confirmed to be a metastasis from the esophageal cancer. The patient has been followed up with chemotherapy.
Subject(s)
Humans , Male , Biopsy, Needle , Carcinoma, Hepatocellular , Carcinoma, Squamous Cell , Esophageal Neoplasms , Esophagectomy , Neoplasm Metastasis , PancreatectomyABSTRACT
Renal cell carcinoma (RCC) in autosomal dominant polycystic kidney (ADPKD) is rare. To date, 54 cases of RCC in ADPKD have been reported. Among these, only 2 cases have different histologic types of RCC. Here we describe a 45-year-old man who received radical nephrectomy for multifocal RCC with synchronous papillary and clear cell histology in ADPKD and chronic renal failure under regular hemodialysis. The case reported herein is another example of the rare pathological finding of RCC arising in a patient with ADPKD.
Subject(s)
Humans , Middle Aged , Carcinoma, Renal Cell , Kidney Failure, Chronic , Nephrectomy , Polycystic Kidney, Autosomal Dominant , Renal DialysisABSTRACT
Small bowel obstructions are most commonly caused by adhesions, hernias, neoplasms or inflammatory stricture. Inflammatory pseudotumors are an uncommon cause of small bowel obstruction, even in a patient with acquired immunodeficiency syndrome (AIDS). We have experienced a case of small bowel obstruction caused by an inflammatory pseudotumor in a 38-year old male with AIDS. Abdominal computed tomography showed small bowel obstruction due to jejunal annular wall thickening. Surgical laparotomy showed a non-specific granulomatous inflammatory mass that could not fulfill any diagnostic criteria for a specific disease. This report describes our findings of small bowel obstruction due to an inflammatory pseudotumor and discusses the differential diagnosis of inflammatory pseudotumor in AIDS patients.
Subject(s)
Humans , Male , Acquired Immunodeficiency Syndrome , Constriction, Pathologic , Diagnosis, Differential , Granuloma, Plasma Cell , Hernia , Inflammation , LaparotomyABSTRACT
We report the first case of an angiomyomatous hamartoma (AH) of the popliteal lymph nodes (LNs) occurring in association with diffuse pigmented villonodular synovitis (PVNS) of the knee. AH is a rare benign vascular disease with a predisposition for the LNs of the inguinal region. Twenty-five cases of AH have been reported to date; however, the precise pathogenesis is still undetermined. In the present case, an open synovectomy revealed two of three popliteal LNs in close proximity to the extra-articular component of diffuse PVNS. These LNs demonstrated irregularly distributed thick-walled blood vessels in the hilum. These vessels extended into the medulla and cortex and were associated with haphazardly arranged smooth muscle cells in the sclerotic stroma. These findings are compatible with an AH. Our observations raise the possibility that AH of the popliteal LNs may represent an abnormal proliferative reaction against the inflammatory process caused by PVNS of the knee.
Subject(s)
Angiomyoma , Blood Vessels , Hamartoma , Knee , Lymph Nodes , Myocytes, Smooth Muscle , Synovitis, Pigmented Villonodular , Vascular DiseasesABSTRACT
BACKGROUND: The major histocompatibility complex class I, G (human leukocyte antigen-G [HLA-G]) gene plays a vital role in the suppression of immune responses. Recently, a number of studies have reported an association between HLA-G and diseases (pregnancy complications, organ transplantation, and tumors). Some of the studies have revealed that the 14-bp insertion/deletion polymorphism might be associated with various diseases. The aim of the present study was to explore a possible influence of the 14-bp insertion/deletion polymorphism on osteosarcoma. METHODS: Genomic DNA was extracted from 75 formalin-fixed, paraffin-embedded tumor tissues derived from patients with conventional osteosarcoma (OSA) and 183 peripheral blood samples of healthy controls. Fifty-eight cases were South Korean patients with OSA and 17 cases were Argentine patients with OSA. The HLA-G 14-bp insertion/deletion polymorphism at exon 8 of the HLA-G locus was analyzed by polymerase chain reaction. RESULTS: There was a significantly different distribution profile for the 14-bp genotypes between the Korean OSA and Korean control groups. Specifically, there were more heterozygote 210 bp/224 bp genotypes in the Korean OSA group when compared to the Korean control group (62.1% vs 40.4%, p=0.002). CONCLUSIONS: The results suggest that HLA-G heterozygote patients may be more susceptible to OSA in the Korean population.