ABSTRACT
The World Health Organization 2016 edition assigned anaplastic lymphoma kinase (ALK) rearrangement-associated renal cell carcinoma (ALK-RCC) as an emerging renal tumor entity. Identifying ALK-RCC is important because ALK inhibitors have been shown to be effective in treatment. Here, we report the case of a 14-year-old young man with ALK-RCC. Computed tomography revealed a well-demarcated 5.3-cm enhancing mass at the upper pole of the left kidney. There was no further history or symptoms of the sickle-cell trait. The patient underwent left radical nephrectomy. Pathologically, the mass was diagnosed as an unclassified RCC. Targeted next-generation sequencing identified a TPM3-ALK fusion gene. The present report and literature review demonstrate that TPM3-ALK RCC may be associated with distinct clinicopathological features. Microscopically, the tumors showed diffuse growth and tubulocystic changes with inflammatory cell infiltration. Tumor cells were dis-cohesive and epithelioid with abundant eosinophilic cytoplasm and cytoplasmic vacuoles. If morphological features and TFE3 expression are present in adolescent and young patients, molecular tests for ALK translocation should be performed. This awareness is critically important, because ALK rearrangement confers sensitivity to ALK inhibitors.
Subject(s)
Adolescent , Humans , Carcinoma, Renal Cell , Cytoplasm , Eosinophils , Gene Rearrangement , Kidney , Lymphoma , Nephrectomy , Phosphotransferases , Vacuoles , World Health OrganizationABSTRACT
PURPOSE: Malignant pleural effusions (MPEs) are often observed in lung cancer, particularly adenocarcinoma. The aim of this study was to investigate epidermal growth factor receptor (EGFR) mutation status in lung adenocarcinoma-associated MPEs (LA-MPEs) and its correlation with efficacy of EGFR tyrosine kinase inhibitor (TKI) therapy. MATERIALS AND METHODS: Samples comprised 40 cell blocks of pathologically-confirmed LA-MPEs collected before the start of EGFR TKI therapy. EGFR mutation status was re-evaluated by peptide nucleic acid clamping and the clinical outcomes of EGFR TKI-treated patients were analyzed retrospectively. RESULTS: EGFR mutations were detected in 72.5% of LA-MPE cell blocks (29/40). The median progression-free survival for patients with EGFR mutations in LA-MPEs was better than that for patients with wild-type EGFR (7.33 months vs. 2.07 months; hazard ratio, 0.486; 95% confidence interval, 0.206 to 1.144; p=0.032). The objective response rate (ORR) of 26 patients with EGFR mutations in LA-MPEs among the 36 patients with measurable lesions was 80.8%, while the ORR of the 10 patients with wild-type EGFR in LA-MPEs was 10% (p < 0.001). Among the 26 patients with EGFR mutations in LA-MPEs, the ORR of target lesions and LA-MPEs were 88.5% and 61.5%, respectively (p=0.026). CONCLUSION: EGFR mutation status in cell blocks of LA-MPEs confirmed by pathologic diagnosis is highly predictive of EGFR TKI efficacy. For patients with EGFR mutations in LA-MPEs, the response to EGFR TKIs seems to be worse for pleural effusions than for solid tumors.
Subject(s)
Humans , Adenocarcinoma , Constriction , Diagnosis , Disease-Free Survival , Lung Neoplasms , Lung , Pleural Effusion , Pleural Effusion, Malignant , Protein-Tyrosine Kinases , ErbB Receptors , Retrospective Studies , TyrosineABSTRACT
We report a rare case of long-term survival in a patient who received local therapy and salvage chemotherapy for recurrent metastases, along with a literature review. A 65-year-old male patient underwent subtotal gastrectomy for advanced gastric adenocarcinoma. Six months after gastrectomy, 2 metastatic intra-abdominal lymph node enlargements were detected, which were treated with radiotherapy. At 55 months after gastrectomy, an abdominal wall mass was detected, which was treated by surgical resection. The patient received 5-fluorouracil/leucovorin/irinotecan chemotherapy for 27 months before and after radiotherapy and docetaxel chemotherapy for 6 months after surgical resection of the abdominal wall metastasis. At the last visit, 7.8 years since the initial resection of the primary gastric cancer and 6.2 years since detection of the first metastases, the patient was disease-free and required no further chemotherapy. This case suggests that repeated local therapy offers potential for long-term survival in a carefully selected subset of patients with recurrent metastases.
Subject(s)
Aged , Humans , Male , Abdominal Wall , Adenocarcinoma , Drug Therapy , Gastrectomy , Lymph Nodes , Neoplasm Metastasis , Radiotherapy , Stomach NeoplasmsABSTRACT
Although lymphoepithelial cysts (LECs) of the pancreas are benign lesions, most of them have been treated with surgical resection due to diagnostic difficulty. We report a 66-year-old woman diagnosed with pancreatic LECs. Abdominal ultrasound revealed two masses in the pancreas, which were not visible on the abdominal computed tomography. In an abdominal magnetic resonance imaging, pancreas lesions showed solid tumors, which revealed a low signal intensity on T1-, moderate high signal intensity on T2 weighted images, and homogeneous delayed enhancement in the portal venous phase. Endosonography (EUS) revealed two hypoechoic round masses measuring 1.5 cm and 4.5 cm in the body and tail of the pancreas, respectively. EUS-guided fine needle aspiration (FNA) revealed squamous cells, amorphous keratinous debris, and lymphocytes. The patient was diagnosed with LECs of the pancreas. For the duration of the follow-up period of two years, imaging studies were unchanged. EUS-FNA is useful in making a definite diagnosis and avoiding unnecessary surgery. This is the first case of pancreatic LECs diagnosed with EUS-FNA in Korea.
Subject(s)
Aged , Female , Humans , Biopsy, Fine-Needle , Diagnosis , Endoscopic Ultrasound-Guided Fine Needle Aspiration , Endosonography , Epithelial Cells , Follow-Up Studies , Korea , Lymphocytes , Magnetic Resonance Imaging , Pancreas , Pancreatic Cyst , Tail , Ultrasonography , Unnecessary ProceduresABSTRACT
Peripheral T-cell lymphomas (PTCLs) are aggressive neoplasms which may involve the liver. The imaging manifestations of hepatic lymphoma are highly variable and show overlapping appearances of numerous other hepatic diseases. As the management and prognosis of lymphoma differ markedly from those of other malignant diseases, prompt diagnosis and early effective treatment are very important. Here, we report an atypical case of primary PTCL not otherwise specified involving the liver that exhibited a solitary hepatic mass mimicking hepatocellular carcinoma (HCC) on CT. Liver biopsy is not commonly recommended in highly suspicious cases of HCC. However, in a patient without risk factors for HCC, consideration of other diagnostic possibilities is required and needle biopsy may be a more rational choice. An imaging approach, based on a careful review of clinical and laboratory findings is essential to prevent false-positive diagnosis of HCC and subsequent invasive treatment.
Subject(s)
Humans , Biopsy , Biopsy, Needle , Carcinoma, Hepatocellular , Diagnosis , Hepatectomy , Liver , Lymphoma , Lymphoma, T-Cell, Peripheral , Prognosis , Risk FactorsABSTRACT
Gastric metastasis from invasive lobular breast carcinoma is rare. Mostly gastrointestinal metastasis presents as one among multiple metastases, several years after primary diagnosis of breast carcinoma. Herein, we report a synchronously diagnosed gastric metastasis from invasive lobular carcinoma, mimicking primary gastric linitis plastica with pyloric obstruction. We reviewed clinical and pathological findings of gastric carcinoma metastatic from the breast. In particular, we focused on immunohistochemical studies of selected antibodies, including those for estrogen receptors, gross cystic disease fluid protein-15, and caudal-type homeobox transcription factor 2, for accurate differential diagnosis. Clinical suspicion, repeat endoscopic biopsy, and detailed histological analysis including immunohistochemistry are necessary for diagnosis of gastric carcinoma metastatic from the breast.
Subject(s)
Antibodies , Biopsy , Breast Neoplasms , Breast , Carcinoma, Lobular , Diagnosis , Diagnosis, Differential , Genes, Homeobox , Immunohistochemistry , Linitis Plastica , Neoplasm Metastasis , Receptors, Estrogen , Stomach , Transcription FactorsABSTRACT
A mediastinal mass was incidentally found on chest radiography in a 46-yr-old woman who had had myasthenia gravis (MG) for 2 months. Computed tomography revealed a 4-cm in size, well-defined, and lobulating mass with nodular calcification that was located in the thymus. Microscopically, the mass consisted of diffuse amorphous eosinophilic materials. These deposits exhibited apple-green birefringence under polarized light microscopy after Congo red staining. Immunohistochemical analysis revealed that they were positive for both kappa and lambda light chains and negative for amyloid A. A diagnosis of localized primary thymic amyloidosis was finally made. After thymectomy, the symptoms of MG were controlled with reduced corticosteroid requirements. Localized thymic amyloidosis associated with MG has not been reported to date.
Subject(s)
Female , Humans , Middle Aged , Amyloidosis/complications , Calcinosis/diagnostic imaging , Immunoglobulin kappa-Chains/immunology , Immunoglobulin lambda-Chains/immunology , Mediastinum/diagnostic imaging , Myasthenia Gravis/complications , Radiography, Thoracic , Thymectomy , Thymus Gland/diagnostic imaging , Tomography, X-Ray ComputedABSTRACT
Localized tenosynovial giant cell tumor (TGCT) usually occurs in the hand and foot regions. However, localized TGCT with extensive cartilaginous metaplasia is rare, especially in the tendon sheath of the toe. Here, we report a case of localized TGCT with cartilaginous metaplasia in a 57-year-old man. The tumor presented as a lobular mass measuring 2.2 cm in its greatest dimension and arose in the flexor digitorum tendon sheath of the right 2nd toe. Clinically, the mass was palpable 1 year ago and brought pain during walking. Microscopically, the mass was composed of focal conventional TGCT and cartilaginous components. The conventional TGCT areas consisted of mononuclear cells, multinucleated giant cells, and hemosiderin deposition. The chondroid areas were extensive and comprised more than 90% of the whole tumor. In this case, the mononuclear cells in the conventional TGCT areas showed focal immunohistochemical staining for podoplanin and S100 protein as well as diffuse staining for CD68, which is consistent with the staining pattern of conventional TGCT. The mononuclear cells in the chondroid areas were focal positive for podoplanin and diffuse positive for S100 protein. Chondroid metaplasia in diffuse TGCT has been reported in 10 cases involving the temporomandibular, elbow, and hip joints. However, there has been no report of a localized form of chondroid TGCT involving an extra-articular region.
Subject(s)
Humans , Middle Aged , Elbow , Foot , Giant Cell Tumors , Giant Cells , Hand , Hemosiderin , Hip Joint , Metaplasia , Staphylococcal Protein A , Tendons , Toes , WalkingABSTRACT
BACKGROUND: Urine cytology is an important test in the screening of urothlelial neoplasms. The conventional smear (CS) method of testing urine samples has a low sensitivity, approximately 50% result accuracy for detecting urothelial carcinomas, while liquid-based cytology (LBC) has much improved diagnostic accuracy, sensitivity, and specificity. The aim of this study was to compare the morphologic features and diagnostic efficacy of CellprepPlus(R) LBC with those of CS for urine cytology. METHODS: A total of 713 cases of urine specimens collected from November 2009 to September 2010 were included. All specimens were divided equally for the preparation of CellprepPlus(R) LBC and CS for each case. RESULTS: CellprepPlus(R) revealed more cellularity, a cleaner background and better cytomorphologic features, but it showed a less intact architectural pattern compared to that of CS. Of the 88 histologically confirmed cases, the diagnostic sensitivity for CellprepPlus(R) was 50% and higher than the 37.5% for CS. The specificity of both preparations was 100%. CONCLUSIONS: The CellprepPlus(R) showed an improved quality of slides and provided better diagnostic accuracy, thus CellprepPlus(R) could be a first-line screening tool in urinary tract cytology.
Subject(s)
Mass Screening , Sensitivity and Specificity , Urinary Bladder Neoplasms , Urinary TractABSTRACT
Intussusception in adult is a rare disease and laparotomy is usually considered because of the probability of malignancy. Especially with obstruction symptom or sign, it might be needed emergency operation. This case was a simultaneous development of small bowel intussusception and acute hepatitis A. The patient had abdominal pain and vomiting. Intitial laboratory examination with elevated aminotransferase revealed that the diagnosis was acute hepatitis. As managing acute hepatitis, the abdominal pain was not improved and the patient had tenderness on periumbilical area on physical examination. A jejunal intussusception with a lead point was proved on the abdominal computed tomography scan. Fortunately, symptom of intussusception was relieved while nulli per os (NPO) and intravenous hydration. After recovery of acute hepatitis, laparotomy was done. The lead point was 2.5x3.0 cm sized hamartoma. This was the case that the symptom of intussusception was confused with that of acute hepatitis.
Subject(s)
Adult , Humans , Abdominal Pain , Emergencies , Hamartoma , Hepatitis , Hepatitis A , Intussusception , Laparotomy , Physical Examination , Rare Diseases , VomitingABSTRACT
BACKGROUND: Therapeutic approaches using monoclonal antibodies (mAbs) against complement regulatory proteins (CRPs:i.e.,CD46,CD55 and CD59) have been reported for adjuvant cancer therapy. In this study, we generated a recombinant 1E8 single-chain anti-CD59 antibody (scFv-Fc) and tested anti-cancer effect.by using complement dependent cytotoxicity (CDC). METHODS: We isolated mRNA from 1E8 hybridoma cells and amplified the variable regions of the heavy chain (VH) and light chain (VL) genes using reverse-transcriptase polymerase chain reaction (RT-PCR). Using a linker, the amplified sequences for the heavy and light chains were each connected to the sequence for a single polypeptide chain that was designed to be expressed. The VL and VH fragments were cloned into the pOptiVEC-TOPO vector that contained the human CH2-CH3 fragment. Then, 293T cells were transfected with the 1E8 single-chain Fv-Fc (scFv-Fc) constructs. CD59 expression was evaluated in the prostate cancer cell lines using flow cytometry. The enhancement of CDC effect by mouse 1E8 and 1E8 scFv-Fc were evaluated using a cytotoxicity assay. RESULTS: The scFv-Fc constructs were expressed by the transfected 293T cells and secreted into the culture medium. The immunoreactivity of the secreted scFv-Fc construct was similar to that of the mouse 1E8 for CCRF-CEM cells. The molecular masses of 1E8 scFv-Fc were about 120 kDa and 55 kDa under reducing and non-reducing conditions, respectively. The DNA sequence of 1E8 scFv-Fc was obtained and presented. CD59 was highly expressed by the prostate cancer cell line. The recombinant 1E8 scFv-Fc mAb revealed significantly enhanced CDC effect similar with mouse 1E8 for prostate cancer cells. CONCLUSION: A 1E8 scFv-Fc construct for adjuvant cancer therapy was developed.