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.Pulmonary Hodgkin Lymphoma in a Patient with Crohn's Disease.
Korean Journal of Pathology 2014;48(5):387-389
No abstract available.
Crohn Disease*
;
Hodgkin Disease*
;
Humans
5.Papillary Cystadenoma of the Fallopian Tube Not Associated with von Hippel-Lindau Disease: A Case Report.
Jae Yeon SEOK ; Myunghee KANG ; Jungsuk AN ; Hyunchul KIM ; Kwang Beom LEE ; Hyun Yee CHO
Korean Journal of Pathology 2014;48(5):382-386
No abstract available.
Cystadenoma, Papillary*
;
Fallopian Tubes*
;
Female
;
von Hippel-Lindau Disease*
6.One Case of a BRCA1 Germ Line Mutation Ovarian Carcinoma Patient Based on Abnormal Immunohistochemistry Finding.
Hyun Joo KIM ; Jung Min PARK ; Hyoun Wook LEE ; Eun Hee LEE ; Min Kyu KIM
Korean Journal of Pathology 2014;48(5):379-381
No abstract available.
Germ-Line Mutation*
;
Humans
;
Immunohistochemistry*
7.Cytokeratin-Positive Gastrointestinal Stromal Tumor of Biphasic Morphology: A Case Report.
Sung Sun KIM ; Yoo Duk CHOI ; Jae Hyuk LEE ; Chan CHOI
Korean Journal of Pathology 2014;48(5):375-378
No abstract available.
Gastrointestinal Stromal Tumors*
8.Cystic Brunner's Gland Hamartoma in the Gastric Body: A Case Report.
Dong Hae CHUNG ; Na Rae KIM ; Hyun Yee CHO ; Yoon Jae KIM
Korean Journal of Pathology 2014;48(5):371-374
No abstract available.
Hamartoma*
9.Nodular Fasciitis of the Parotid Gland, Masquerading as Pleomorphic Adenoma.
Chung Su HWANG ; Chang Hun LEE ; Ahrong KIM ; Nari SHIN ; Won Young PARK ; Min Gyoung PARK ; Do Youn PARK
Korean Journal of Pathology 2014;48(5):366-370
It is difficult to distinguish nodular fasciitis (NF) from other neoplasm of the parotid gland, especially pleomorphic adenoma (PA) by fine needle aspiration cytology. A 39-year-old female noticed a mass in the parotid region. The aspirate material showed cohesive parts composed of the cells that had oval or spindle-shaped nuclei and relatively abundant cytoplasm and some cells with plasmacytoid features. The background substance was fibromyxoid. PA was diagnosed based on the cytologic findings. Subsequently, parotidectomy was performed and NF was diagnosed based on histologic and immunohistochemical findings. NF in the parotid region is rare and may be misdiagnosed as other benign or malignant tumors of the parotid gland. The clinical history of rapid growth and the presence of mitoses and inflammatory cells help to distinguish NF from PA. In addition, immunohistochemical stains for smooth muscle actin and CD68 are useful to confirm the diagnosis of NF.
Actins
;
Adenoma, Pleomorphic*
;
Adult
;
Biopsy, Fine-Needle
;
Coloring Agents
;
Cytoplasm
;
Diagnosis
;
Fasciitis*
;
Female
;
Humans
;
Mitosis
;
Muscle, Smooth
;
Parotid Gland*
;
Parotid Region
10.Alveolar Soft Part Sarcoma of the Uterine Cervix: A Case Report and Review of the Literature.
Korean Journal of Pathology 2014;48(5):361-365
Alveolar soft part sarcoma (ASPS) of the uterine cervix is a rare malignancy, and 21 cases have been reported the literature from every language (including our case). Herein, we describe a 17-yearold female patient who presented with active vaginal bleeding. Pelvic examination revealed a 1.6 x1.0x0.5-cm-sized soft mass protruding from the uterine cervix. The final pathological diagnosis was ASPS of the uterine cervix. Immunohistochemically, tumor cells were strongly nuclear positive for transcription factor E3. The patient remained disease free for 24 months without adjuvant therapy. The prognosis of ASPS in the cervix is considerably better than that of ASPS in soft tissues due to early clinical detection, small size, and resectability. ASPS should be considered in the differential diagnosis of an unusual epithelioid neoplasm showing organoid appearance with mild cytologic atypia and no/rare mitotic figures, particularly in young women. Pathologists should be aware of those unusual locations where ASPS may originate.
Cervix Uteri*
;
Diagnosis
;
Diagnosis, Differential
;
Female
;
Gynecological Examination
;
Humans
;
Immunohistochemistry
;
Organoids
;
Prognosis
;
Sarcoma, Alveolar Soft Part*
;
Transcription Factors
;
Uterine Hemorrhage
;
Viperidae

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