1.KRAS Mutation Detection in Non-small Cell Lung Cancer Using a Peptide Nucleic Acid-Mediated Polymerase Chain Reaction Clamping Method and Comparative Validation with Next-Generation Sequencing.
Boram LEE ; Boin LEE ; Gangmin HAN ; Mi Jung KWON ; Joungho HAN ; Yoon La CHOI
Korean Journal of Pathology 2014;48(2):100-107
BACKGROUND: KRAS is one of commonly mutated genetic "drivers" in non-small cell lung cancers (NSCLCs). Recent studies indicate that patients with KRAS-mutated tumors do not benefit from adjuvant chemotherapy, so there is now a focus on targeting KRAS-mutated NSCLCs. A feasible mutation detection method is required in order to accurately test for KRAS status. METHODS: We compared direct Sanger sequencing and the peptide nucleic acid (PNA)-mediated polymerase chain reaction (PCR) clamping method in 134 NSCLCs and explored associations with clinicopathological factors. Next-generation sequencing (NGS) was used to validate the results of discordant cases. To increase the resolution of low-level somatic mutant molecules, PNA-mediated PCR clamping was used for mutant enrichment prior to NGS. RESULTS: Twenty-one (15.7%) cases were found to have the KRAS mutations using direct sequencing, with two additional cases by the PNA-mediated PCR clamping method. The frequencies of KRAS mutant alleles were 2% and 4%, respectively, using conventional NGS, increasing up to 90% and 89%, using mutant-enriched NGS. The KRAS mutation occurs more frequently in the tumors of smokers (p=.012) and in stage IV tumors (p=.032). CONCLUSIONS: Direct sequencing can accurately detect mutations, but, it is not always possible to obtain a tumor sample with sufficient volume. The PNA-mediated PCR clamping can rapidly provide results with sufficient sensitivity.
Alleles
;
Carcinoma, Non-Small-Cell Lung*
;
Chemotherapy, Adjuvant
;
Constriction*
;
Humans
;
Lung Neoplasms
;
Peptide Nucleic Acids
;
Polymerase Chain Reaction*
2.Pleural Mesothelioma: An Institutional Experience of 66 Cases.
Soomin AHN ; In Ho CHOI ; Joungho HAN ; Jhingook KIM ; Myung Ju AHN
Korean Journal of Pathology 2014;48(2):91-99
BACKGROUND: Malignant mesothelioma of the pleura is an aggressive tumor known to be associated with asbestos. Histological diagnosis of mesothelioma is challenging and is usually aided by immunohistochemical markers. METHODS: During an 18-year period (1995-2012), 66 patients with pleural mesothelioma were diagnosed at the Samsung Medical Center in Seoul. We reviewed hematoxylin and eosin and immunohistochemical slides of pleural mesothelioma and evaluated their pathological and clinical features. RESULTS: The male-to-female ratio was 1.75:1, and age of patients ranged from 28 to 80 years with an average age of 56.84 years. Twenty-two out of 66 patients underwent curative pneumonectomy. Follow-up data was available in 60 patients (90.9%), and 50 of them (83.3%) died from the disease. The average overall survival was 15.39 months. Histologically, the epithelioid type was the most common, followed by the sarcomatoid and the biphasic types. Epidemiologic information was not available in most cases, and only one patient was confirmed to have a history of asbestos exposure. CONCLUSIONS: Malignant mesothelioma of the pleura is a fatal tumor, and the therapeutic benefit of pneumonectomy remains unproven. The combination of calretinin, Wilms tumor 1, HMBE-1, and thyroid transcription factor-1 may provide high diagnostic accuracy in diagnosing mesothelioma.
Asbestos
;
Calbindin 2
;
Diagnosis
;
Eosine Yellowish-(YS)
;
Follow-Up Studies
;
Hematoxylin
;
Humans
;
Immunohistochemistry
;
Mesothelioma*
;
Pleura
;
Pneumonectomy
;
Seoul
;
Thyroid Gland
;
Wilms Tumor
3.Current Concepts in Primary Effusion Lymphoma and Other Effusion-Based Lymphomas.
Yoonjung KIM ; Chan Jeong PARK ; Jin ROH ; Jooryung HUH
Korean Journal of Pathology 2014;48(2):81-90
Primary effusion lymphoma (PEL) is a human herpes virus 8 (HHV8)-positive large B-cell neoplasm that presents as an effusion with no detectable tumor in individuals with human immunodeficiency virus infection or other immune deficiencies. PEL is an aggressive neoplasm with a poor prognosis. PEL cells show diverse morphologies, ranging from immunoblastic or plasmablastic to anaplastic. The immunophenotype of PEL is distinct, but its lineage can be misdiagnosed if not assessed thoroughly. PEL cells usually express CD45, lack B- and T-cell-associated antigens, and characteristically express lymphocyte activation antigens and plasma cell-associated antigens. Diagnosis of PEL often requires the demonstration of a B-cell genotype. HHV8 must be detected in cells to diagnose PEL. In most cases, PEL cells also harbor the Epstein-Barr virus (EBV) genome. Similar conditions associated with HHV8 but not effusion-based are called "extracavitary PELs." PELs should be differentiated from HHV8-negative, EBV-positive, body cavity-based lymphomas in patients with long-standing chronic inflammation; the latter can occur in tuberculous pleuritis, artificial pneumothorax, chronic liver disease and various other conditions. Despite their morphological similarity, these various lymphomas require different therapeutic strategies and have different prognostic implications. Correct diagnosis is essential to manage and predict the outcome of patients with PEL and related disorders.
B-Lymphocytes
;
Diagnosis
;
Genome
;
Genotype
;
Herpesvirus 4, Human
;
HIV
;
Humans
;
Inflammation
;
Liver Diseases
;
Lymphocyte Activation
;
Lymphoma*
;
Lymphoma, Primary Effusion*
;
Plasma
;
Pleurisy
;
Pneumothorax, Artificial
;
Prognosis
4.Fine Needle Aspiration Cytology of Warthin-like Papillary Thyroid Carcinoma: A Brief Case Report.
Yosep CHONG ; Sungwook SUH ; Tae Jung KIM ; Eun Jung LEE
Korean Journal of Pathology 2014;48(2):170-173
No abstract available.
Biopsy, Fine-Needle*
;
Thyroid Neoplasms*
6.Simultaneous Occurrence of Ductal Carcinoma In Situ within Juvenile Fibroadenoma in Both Breasts: A Brief Case Report.
Mi Jung KWON ; Hye Rim PARK ; Jinwon SEO ; Dong Hoon KIM ; Kyoonsoon JUNG ; Young Ah LIM ; Lee Su KIM ; Hoonsik BAE ; In Ae PARK ; Soo Kee MIN
Korean Journal of Pathology 2014;48(2):164-166
No abstract available.
Breast*
;
Carcinoma, Intraductal, Noninfiltrating*
;
Fibroadenoma*
7.Esophageal Squamous Cell Carcinoma In Situ Overlying Leiomyoma Mimicking Invasive Cancer: A Brief Case Report.
Woo Jin OH ; Eun Jung LEE ; Youn Soo LEE ; Tae Jung KIM
Korean Journal of Pathology 2014;48(2):162-163
No abstract available.
Carcinoma, Squamous Cell*
;
Leiomyoma*
8.Adenocarcinoma Arising in Gastric Duplication Cyst.
Hyo Jeong KANG ; Se Jin JANG ; Young Soo PARK
Korean Journal of Pathology 2014;48(2):159-161
No abstract available.
Adenocarcinoma*
9.Different Protein Expressions between Peripheral Ameloblastoma and Oral Basal Cell Carcinoma Occurred at the Same Mandibular Molar Area.
Korean Journal of Pathology 2014;48(2):151-158
Peripheral ameloblastoma (PA) in gingiva is rare and often confused with oral basal cell carcinoma (OBCC). The tissues of one case of PA and one case of OBCC with the same mandibular molar area affected were compared via an immunohistochemical examination using 50 antisera. The PA and OBCC showed similar proliferation of basaloid epithelial strands, but toluidine blue staining revealed that the PA had pinkish juxta-epithelial myxoid tissue, whereas the OBCC was infiltrated by many mast cells. Immunohistochemical comparisons showed that the PA was strongly positive for ameloblastin, KL1, p63, carcinoembryonic antigen, focal adhesion kinase, and cathepsin K, and slightly positive for amelogenin, Krox-25, E-cadherin, and PTCH1, whereas the OBCC was not. On the other hand, the OBCC was strongly positive for EpCam, matrix metalloprotease (MMP)-1, alpha1-antitrypsin, cytokeratin-7, p53, survivin, pAKT1, transforming growth factor-beta1, NRAS, TGase-1, and tumor nescrosis factor-alpha, and consistently positive for beta-catenin, MMP-2, cathepsin G, TGase-2, SOS-1, sonic hedgehog, and the beta-defensins-1, -2, -3, while the PA was not. These data suggest that the tumorigeneses of PA and OBCC differ, and that PAs undergo odontogenic differentiation and generate oncogenic signals for infiltrative growth and bone resorption, whereas OBCCs undergo basaloid epidermal differentiation as a result of growth factor/cytokine-related oncogenic signals.
Ameloblastoma*
;
Amelogenin
;
beta Catenin
;
Bone Resorption
;
Cadherins
;
Carcinoembryonic Antigen
;
Carcinogenesis
;
Carcinoma, Basal Cell*
;
Cathepsin G
;
Cathepsin K
;
Focal Adhesion Protein-Tyrosine Kinases
;
Gingiva
;
Hand
;
Hedgehogs
;
Immune Sera
;
Immunohistochemistry
;
Keratin-7
;
Mast Cells
;
Molar*
;
Tolonium Chloride
10.Multifocal Osteosarcoma of the Skull: Multiple Primary or Metastatic? A Case Report.
Hyuck CHO ; Bong Jin PARK ; Yong Koo PARK
Korean Journal of Pathology 2014;48(2):146-150
Osteosarcoma of the skull is a very rare condition. Moreover, it is extremely rare for osteosarcoma to present as multiple lesions confined to the skull. A 58-year-old woman was admitted with two masses in the parietal area of the skull, accompanied by mild headache and tenderness. Imaging revealed two masses with a heterogeneous consistency in the cranial bones. Excision craniectomy was performed and the pathology was consistent with osteoblastic osteosarcoma. Two nodules in the heart were found on routine follow-up imaging while the patient was undergoing chemotherapy. The nodules were biopsied and found to be metastatic osteosarcoma.
Drug Therapy
;
Female
;
Follow-Up Studies
;
Headache
;
Heart
;
Humans
;
Middle Aged
;
Osteoblasts
;
Osteosarcoma*
;
Pathology
;
Rabeprazole
;
Skull*
Result Analysis
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