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.Primary Gastric Histiocytic Sarcoma Reminiscent of Inflammatory Pseudotumor: A Case Report with Review of the Literature.
Dakeun LEE ; Young Bae KIM ; Sook Hee CHUNG ; Sang Ryung LEE ; Cheul Su BYUN ; Sang Uk HAN ; Jae Ho HAN
Korean Journal of Pathology 2014;48(3):258-262
No abstract available.
Granuloma, Plasma Cell*
;
Histiocytic Sarcoma*
5.Intracranial Extracerebral Glioneuronal Heterotopia with Adipose Tissue and a Glioependymal Cyst: A Case Report and Review of the Literature.
Hwa Jin CHO ; Han Na KIM ; Kyung Ju KIM ; Kyu Sang LEE ; Jae Kyung MYUNG ; Seung Ki KIM ; Sung Hye PARK
Korean Journal of Pathology 2014;48(3):254-257
No abstract available.
Adipose Tissue*
6.Dedifferentiated Solitary Fibrous Tumor of Thoracic Cavity.
Jung Wook YANG ; Dae Hyun SONG ; In Seok JANG ; Gyung Hyuck KO
Korean Journal of Pathology 2014;48(3):250-253
No abstract available.
Solitary Fibrous Tumors*
;
Thoracic Cavity*
7.Bilateral Stafne Bone Cavity in the Anterior Mandible with Heterotopic Salivary Gland Tissue: A Case Report.
Hyunchul KIM ; Jae Yeon SEOK ; Sangho LEE ; Jungsuk AN ; Na Rae KIM ; Dong Hae CHUNG ; Hyun Yee CHO ; Seung Yeon HA
Korean Journal of Pathology 2014;48(3):248-249
No abstract available.
Mandible*
;
Salivary Glands*
8.A Case of Metastatic Angiosarcoma Diagnosed by Liquid-Based Preparation: Peculiar Cytoplasmic Changes.
Korean Journal of Pathology 2014;48(3):241-247
Angiosarcoma with predominantly epithelioid features is a rare soft tissue neoplasm and the interpretation of its cytopathologic findings may be difficult. We report a case of metastatic angiosarcoma with predominantly epithelioid features diagnosed by liquid-based cytology. The cytopathologic findings in this case differed from those of the conventional preparation and we found a clean background, no hyperchromatic nuclei and several cytoplasmic changes, including intracytoplasmic vacuoles with peculiar shapes, juxtanuclear condensation and perinuclear clearing. Identification of these changes using liquid-based cytology supplemented with immunochemistry may be helpful in reaching a correct cytopathologic diagnosis.
Cytodiagnosis
;
Cytoplasm*
;
Diagnosis
;
Hemangiosarcoma*
;
Immunochemistry
;
Soft Tissue Neoplasms
;
Vacuoles
9.Anaplastic Transformation of Papillary Thyroid Carcinoma in a Young Man: A Case Study with Immunohistochemical and BRAF Analysis.
Ji Hye PARK ; Hyeong Ju KWON ; Cheong Soo PARK ; SoonWon HONG
Korean Journal of Pathology 2014;48(3):234-240
This study reports a case of anaplastic transformation from a well-differentiated thyroid carcinoma in a young patient. The first recurrent tissue contained poorly differentiated foci that revealed lower thyroglobulin, thyroid transcription factor 1 (TTF-1), and galectin-3 expression than the well-differentiated area. However there was no increased p53 or Ki-67 expression in the poorly differentiated foci, nor in the well-differentiated area. The tissue subsequently relapsed and revealed only anaplastic features, complete loss of thyroglobulin, TTF-1, and galectin-3 expression and revealed an increase in p53 and Ki-67 expression. The BRAF V600E and BRAF V600V mutation were found in the initially diagnosed papillary thyroid carcinoma and the poorly differentiated foci of the recurring papillary thyroid carcinoma; however, only the BRAF V600V mutation was found in the anaplastic carcinoma. These results suggest that overexpression of p53 and Ki-67 contributed to the anaplastic transformation. We also found that the BRAF type changed during the tumor relapse.
Carcinoma
;
Galectin 3
;
Humans
;
Immunohistochemistry
;
Proto-Oncogene Proteins B-raf
;
Recurrence
;
Thyroglobulin
;
Thyroid Gland
;
Thyroid Neoplasms*
;
Transcription Factors
;
Young Adult
10.Low-Grade Adenosquamous Carcinoma of the Breast with Diverse Expression Patterns of Myoepithelial Cell Markers on Immunohistochemistry: A Case Study.
Yoon Jin CHA ; Gi Jeong KIM ; Byeong Woo PARK ; Ja Seung KOO
Korean Journal of Pathology 2014;48(3):229-233
This paper reports a case of low-grade adenosquamous carcinoma (LGASC) arising in a 69-year-old woman, who presented with a 1-cm palpable mass on her right breast. Core needle biopsy diagnosed the mass as a fibroadenoma. After six months, the mass increased in size, and the patient received subsequent mammotome excision. On microscopic examination, bland-looking small glands were infiltrating into the fibrotic stroma with lymphocytic infiltrates at the periphery. Hematoxylin and eosin staining revealed relatively easily detectable myoepithelial cells along the outside in each of the glandular structures with variable degrees of squamous metaplasia. Based on histologic features, the patient was diagnosed with LGASC. LGASC is a rare variant of metaplastic carcinoma, which is characterized by a favorable prognosis. Due to the bland cytology and presence of myoepithelial cells, LGASC can be misdiagnosed as benign lesion. Additionally, inconsistent expression of myoepithelial markers could aid the diagnosis of LGASC.
Aged
;
Biopsy, Large-Core Needle
;
Breast*
;
Carcinoma, Adenosquamous*
;
Diagnosis
;
Eosine Yellowish-(YS)
;
Female
;
Fibroadenoma
;
Hematoxylin
;
Humans
;
Immunohistochemistry*
;
Metaplasia
;
Prognosis
Result Analysis
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