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Volume 54(4); July 2020
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Reviews
Clinicopathological characteristics of BRCA-associated breast cancer in Asian patients
Eun-Kyu Kim, So Yeon Park, Sung-Won Kim
J Pathol Transl Med. 2020;54(4):265-275.   Published online May 14, 2020
DOI: https://doi.org/10.4132/jptm.2020.04.07
  • 4,590 View
  • 184 Download
  • 7 Citations
AbstractAbstract PDF
BRCA1/2 germline mutations account for the majority of hereditary breast cancers. Since the identification of the BRCA genes, several attempts have been made to define the clinicopathological characteristics of BRCA-associated breast cancer in comparison with sporadic breast cancer. Asians constitute 60% of the world population, and although the incidence of breast cancer in Asia remains low compared to the West, breast cancer is the most prevalent female cancer in the region. The epidemiological aspects of breast cancer are different between Asians and Caucasians. Asian patients present with breast cancer at a younger age than Western patients. The contributions of BRCA1/2 mutations to breast cancer incidence are expected to differ between Asians and Caucasians, and the different genetic backgrounds among races are likely to influence the breast cancer phenotypes. However, most large-scale studies on the clinicopathological characteristics of BRCA-associated breast cancer have been on Western patients, while studies on Asian populations were small and sporadic. In this review, we provide an overview of the clinical and pathological characteristics of BRCA-associated breast cancer, incorporating findings on Asian patients.
Evolving pathologic concepts of serrated lesions of the colorectum
Jung Ho Kim, Gyeong Hoon Kang
J Pathol Transl Med. 2020;54(4):276-289.   Published online June 26, 2020
DOI: https://doi.org/10.4132/jptm.2020.04.15
  • 7,229 View
  • 520 Download
  • 10 Citations
AbstractAbstract PDFSupplementary Material
Here, we provide an up-to-date review of the histopathology and molecular pathology of serrated colorectal lesions. First, we introduce the updated contents of the 2019 World Health Organization classification for serrated lesions. The sessile serrated lesion (SSL) is a new diagnostic terminology that replaces sessile serrated adenoma and sessile serrated polyp. The diagnostic criteria for SSL were revised to require only one unequivocal distorted serrated crypt, which is sufficient for diagnosis. Unclassified serrated adenomas have been included as a new category of serrated lesions. Second, we review ongoing issues concerning the morphology of serrated lesions. Minor morphologic variants with distinct molecular features were recently defined, including serrated tubulovillous adenoma, mucin-rich variant of traditional serrated adenoma (TSA), and superficially serrated adenoma. In addition to intestinal dysplasia and serrated dysplasia, minimal deviation dysplasia and not otherwise specified dysplasia were newly suggested as dysplasia subtypes of SSLs. Third, we summarize the molecular features of serrated lesions. The critical determinant of CpG island methylation development in SSLs is patient age. Interestingly, there may be ethnic differences in BRAF/KRAS mutation frequencies in SSLs. The molecular pathogenesis of TSAs is divided into KRAS and BRAF mutation pathways. SSLs with MLH1 methylation can progress into favorable prognostic microsatellite instability-positive (MSI+)/CpG island methylator phenotype-positive (CIMP+) carcinomas, whereas MLH1-unmethylated SSLs and BRAF-mutated TSAs can be precursors of poor-prognostic MSI−/CIMP+ carcinomas. Finally, based on our recent data, we propose an algorithm for stratifying risk subgroups of non-dysplastic SSLs.
Original Articles
Peripheral type squamous cell carcinoma of the lung: clinicopathologic characteristics in comparison to the central type
Yeoun Eun Sung, Uiju Cho, Kyo Young Lee
J Pathol Transl Med. 2020;54(4):290-299.   Published online June 17, 2020
DOI: https://doi.org/10.4132/jptm.2020.05.04
  • 3,207 View
  • 125 Download
  • 3 Citations
AbstractAbstract PDF
Background
Squamous cell carcinomas (SqCCs) of the lung are known to arise more often in a central area but reports of peripheral SqCCs have increased, with a pathogenesis that is obscured. In this study, the clinicopathologic characteristics of peripheral lung SqCCs were studied and compared with those of the central type.
Methods
This study included 63 peripheral lung SqCCs and 48 randomly selected central cases; hematoxylin and eosin-stained slides of surgically resected specimens were reviewed in conjunction with radiologic images and clinical history. Cytokeratin-7 immunohistochemical staining of key slides and epidermal growth factor receptor (EGFR)/KRAS mutations tested by DNA sequencing were also included.
Results
Stages of peripheral SqCCs were significantly lower than central SqCCs (p=.016). Cystic change of the mass (p=.007), presence of interstitial fibrosis (p=0.007), and anthracosis (p=.049) in the background lung were significantly associated with the peripheral type. Cytokeratin-7 positivity was also higher in peripheral SqCCs with cutoffs of both 10% and 50% (p=.011). Pathogenic mutations in EGFR and KRAS were observed in only one case out of the 72 evaluated. The Cox proportional hazard model indicated a significantly better disease-free survival (p=.009) and the tendency of better overall survival (p=.106) in the peripheral type.
Conclusions
In peripheral type, lower stage is a favorable factor for survival but more frequent interstitial fibrosis and older age are unfavorable factors. Multivariate Cox analysis revealed that peripheral type is associated with better disease-free survival. The pathogenesis of peripheral lung SqCCs needs further investigation, together with consideration of the background lung conditions.
Analysis of PAX8 immunohistochemistry in lung cancers: a meta-analysis
Jae Han Jeong, Nae Yu Kim, Jung-Soo Pyo
J Pathol Transl Med. 2020;54(4):300-309.   Published online July 10, 2020
DOI: https://doi.org/10.4132/jptm.2020.06.08
  • 2,515 View
  • 96 Download
  • 1 Citations
AbstractAbstract PDF
Background
In this meta-analysis, we aimed to evaluate the PAX8 immunohistochemical expressions in primary lung cancers and metastatic cancers to the lung.
Methods
We identified and reviewed relevant articles from the PubMed databases. Ultimately, 18 articles were included in this meta-analysis. PAX8 expression rates were analyzed and compared between primary and metastatic lung cancers.
Results
The PAX8 expression rate in primary lung cancers was 0.042 (95% confidence interval [CI], 0.025 to 0.071). PAX8 expression rates of small cell (0.129; 95% CI, 0.022 to 0.496) and non-small cell carcinomas of the lung (0.037; 95% CI, 0.022 to 0.061) were significantly different (p=.049 in a meta-regression test). However, the PAX8 expression rates of adenocarcinoma (0.013; 95% CI, 0.006 to 0.031) and squamous cell carcinoma (0.040; 95% CI, 0.016 to 0.097) were not significantly different. PAX8 expression rates of metastatic carcinomas to the lung varied, ranging from 1.8% to 94.9%. Metastatic carcinomas from the lung to other organs had a PAX8 expression rate of 6.3%. The PAX8 expression rates of metastatic carcinomas from the female genital organs, kidneys, and thyroid gland to the lung were higher than those of other metastatic carcinomas.
Conclusions
Primary lung cancers had a low PAX8 expression rate regardless of tumor subtype. However, the PAX8 expression rates of metastatic carcinomas from the female genital organs, kidneys, and thyroid were significantly higher than those of primary lung cancers.
Highly prevalent BRAF V600E and low-frequency TERT promoter mutations underlie papillary thyroid carcinoma in Koreans
Sue Youn Kim, Taeeun Kim, Kwangsoon Kim, Ja Seong Bae, Jeong Soo Kim, Chan Kwon Jung
J Pathol Transl Med. 2020;54(4):310-317.   Published online June 15, 2020
DOI: https://doi.org/10.4132/jptm.2020.05.12
  • 4,730 View
  • 141 Download
  • 11 Citations
AbstractAbstract PDF
Background
The presence of telomerase reverse transcriptase (TERT) promoter mutations have been associated with a poor prognosis in patients with papillary thyroid carcinomas (PTC). The frequency of TERT promoter mutations varies widely depending on the population and the nature of the study.
Methods
Data were prospectively collected in 724 consecutive patients who underwent thyroidectomy for PTC from 2018 to 2019. Molecular testing for BRAF V600E and TERT promoter mutations was performed in all cases.
Results
TERT promoter alterations in two hotspots (C228T and C250T) and C216T were found in 16 (2.2%) and 4 (0.6%) of all PTCs, respectively. The hotspot mutations were significantly associated with older age at diagnosis, larger tumor size, extrathyroidal extension, higher pathologic T category, lateral lymph node metastasis, and higher American Thyroid Association recurrence risk. The patients with C216T variant were younger and had a lower American Thyroid Association recurrence risk than those with hotspot mutations. Concurrent BRAF V600E was found in 19 of 20 cases with TERT promoter mutations. Of 518 microcarcinomas measuring ≤1.0 cm in size, hotspot mutations and C216T variants were detected in five (1.0%) and three (0.6%) cases, respectively.
Conclusions
Our study indicates a low frequency of TERT promoter mutations in Korean patients with PTC and supports previous findings that TERT promoter mutations are more common in older patients with unfavorable clinicopathologic features and BRAF V600E. TERT promoter mutations in patients with microcarcinoma are uncommon and may have a limited role in risk stratification. The C216T variant seems to have no clinicopathologic effect on PTC.
Current status of cytopathology practices in Korea: annual report on the Continuous Quality Improvement program of the Korean Society for Cytopathology for 2018
Yosep Chong, Haeyoen Jung, Jung-Soo Pyo, Soon Won Hong, Hoon Kyu Oh
J Pathol Transl Med. 2020;54(4):318-331.   Published online April 15, 2020
DOI: https://doi.org/10.4132/jptm.2020.02.26
  • 3,281 View
  • 83 Download
  • 1 Citations
AbstractAbstract PDFSupplementary Material
Background
The Korean Society for Cytopathology has conducted the Continuous Quality Improvement program for cytopathology laboratories in Korea since 1995. In 2018 as part of the program, an annual survey of cytologic data was administered to determine the current status of cytopathology practices in Korea. Methods: A questionnaire was administered to 211 cytopathology laboratories. Individual laboratories submitted their annual statistics regarding cytopathology practices, diagnoses of gynecologic samples, inadequacy rates, and gynecologic cytology-histology correlation review (CHCR) data for 2018. In addition, proficiency tests and sample adequacy assessments were conducted using five consequent gynecologic slides. Results: Over 10 million cytologic exams were performed in 2018, and this number has almost tripled since this survey was first conducted in 2004 (compounded annual growth rate of 7.2%). The number of non-gynecologic samples has increased gradually over time and comprised 24% of all exams. The overall unsatisfactory rate was 0.14%. The ratio of the cases with atypical squamous cells to squamous intraepithelial lesions accounted for up to 4.24. The major discrepancy rate of the CHCR in gynecologic samples was 0.52%. In the proficiency test, the major discrepancy rate was approximately 1%. In the sample adequacy assessment, a discrepancy was observed in 0.1% of cases. Conclusions: This study represents the current status of cytopathology practices in Korea, illustrating the importance of the Continuous Quality Improvement program for increasing the accuracy and credibility of cytopathologic exams as well as developing national cancer exam guidelines and government projects on the prevention and treatment of cancer.
Case Studies
Gastric crystal-storing histiocytosis with concomitant mucosa-associated lymphoid tissue lymphoma
Mee Joo, Nam-Hoon Kim
J Pathol Transl Med. 2020;54(4):332-335.   Published online May 22, 2020
DOI: https://doi.org/10.4132/jptm.2020.04.20
  • 2,584 View
  • 91 Download
  • 2 Citations
AbstractAbstract PDF
Crystal-storing histiocytosis (CSH) is a rare entity that is characterized by intrahistiocytic accumulation of crystallized immunoglobulins. CSH is not a malignant process per se, but the majority of CSH cases are associated with underlying lymphoproliferative disorder. Although CSH can occur in a variety of organs, gastric CSH is very rare. We present a localized gastric CSH with concomitant mucosaassociated lymphoid tissue (MALT) lymphoma, manifesting as an ulcer bleeding in a 56-year-old man. Histologically, the biopsied gastric mucosa demonstrated expansion of the lamina propria by prominent collections of large eosinophilic mononuclear cells containing fibrillary crystalloid inclusions. Immunohistochemical studies revealed that the crystal-storing cells were histiocytes harboring kappa light chain-restricted immunoglobulin crystals. Within the lesion, atypical centrocyte-like cells forming lymphoepithelial lesions were seen, consistent with MALT lymphoma. Since this entity is rare and unfamiliar, difficulties in diagnosis may arise. Particularly, in this case, the lymphomatous area was obscured by florid CSH, making the diagnosis more challenging.
Pediatric granular cell tumor in the posterior wall of the larynx extending to the trachea
Jungsuk Ahn, Na Rae Kim, Yong Han Sun
J Pathol Transl Med. 2020;54(4):336-339.   Published online April 15, 2020
DOI: https://doi.org/10.4132/jptm.2020.02.28
  • 2,381 View
  • 103 Download
AbstractAbstract PDF
Granular cell tumor (GCT) is a slow-growing benign neoplasm that can be found in any organ. Pediatric laryngotracheal GCT is rare. We experienced a 6-year-old boy suffering from a barking cough and symptoms of stridor and croup for one month. Head and neck computed tomography revealed a protruding mass that occluded 60% of the airway lumen. Under the impression of hemangioma or papilloma, excision revealed a submucosal non-encapsulated mass. Histologically, the mass was composed of sheets of large polyhedralshaped tumor cells containing plump eosinophilic granular cytoplasm and centrally placed, small, bland-appearing nuclei. The tumor cells were positive for S-100 protein, and voluminous eosinophilic cytoplasm was stained by diastase-resistant periodic acid-Schiff. The present report describes a unique case of a huge pediatric laryngeal GCT extending to the subglottic trachea. We also review the clinical course of pediatric laryngotracheal GCT and emphasize the importance of diagnosing GCT in children.
Primary hepatic extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue
Soyeon Choi, Ji Hye Kim, Kyungbin Kim, Misung Kim, Hye Jeong Choi, Young Min Kim, Jae Hee Suh, Min Jung Seo, Hee Jeong Cha
J Pathol Transl Med. 2020;54(4):340-345.   Published online April 15, 2020
DOI: https://doi.org/10.4132/jptm.2020.03.18
  • 3,363 View
  • 105 Download
  • 4 Citations
AbstractAbstract PDF
Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma), is one of the specific type of low-grade B-cell lymphoma not infrequently found worldwide. It typically involves mucosal sites such as stomach and conjunctiva; however, primary hepatic MALT lymphoma has been extremely rarely reported. We describe a case of hepatic MALT lymphoma in a 70-year-old male patient who underwent left hepatectomy due to the incidentally detected liver masses at a medical checkup. The resected specimen revealed multinodular masses consisting of small-to-intermediate-sized lymphoid cells with serpentine pattern and focal lymphoepithelial lesions. The tumor cells were diffusely positive for CD20 and Bcl-2 but negative for CD3, CD10, CD5, CD23, CD43, and cyclinD1. The Ki-67 labeling index was 10% and immunoglobulin heavy chain gene rearrangement study confirmed monoclonal proliferation. In this paper, we discuss several unique clinicopathologic characteristics which will be helpful to the differential diagnosis of hepatic MALT lymphoma.
Atypical femoral neck fracture after prolonged bisphosphonate therapy
Kwang-kyoun Kim, Young-wook Park, Tae-hyeong Kim, Kyung-deok Seo
J Pathol Transl Med. 2020;54(4):346-350.   Published online June 29, 2020
DOI: https://doi.org/10.4132/jptm.2020.05.14
Correction in: J Pathol Transl Med 2020;54(5):435
  • 2,920 View
  • 114 Download
  • 4 Citations
AbstractAbstract PDF
Of the drugs developed to prevent and treat osteoporosis, bisphosphonate has played a very important role in preventing osteoporotic fractures. However, case reports describing atypical femoral fractures in patients using long-term bisphosphonates have emerged. The majority of atypical femur fractures occurs in the lateral aspect of the subtrochanteric or femur diaphysis, which is explained by accumulation of tensile stress in these areas. Although the superior cortex of the femur neck withstands maximum tensile stress, to our knowledge, there have been only two reports (three cases) of atypical femoral neck fracture. In addition, none of those case reports revealed detailed pathology related to suppressed bone turnover rate. We encountered an incomplete femoral neck fracture and diagnosed it as “atypical” on the basis of the patient’s lack of trauma and medication history and pathological findings. For patients with groin pain, minimal or no trauma, and a history of long-term bisphosphonate use, an atypical femoral neck fracture should be considered.

JPTM : Journal of Pathology and Translational Medicine