Journal of Pathology and Translational Medicine

Case Study

Rhabdomyosarcoma of the skull with EWSR1 fusion and ALK and cytokeratin expression: a case report: Hyeong Rok An, Kyung-Ja Cho, Sang Woo Song, Ji Eun Park, Joon Seon Song; J Pathol Transl Med. 2024;58(5):255-260. Published online September 5, 2024; DOI: https://doi.org/10.4132/jptm.2024.08.15

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Abstract PDF: Rhabdomyosarcoma (RMS) comprises of heterogeneous group of neoplasms that occasionally express epithelial markers on immunohistochemistry (IHC). We herein report the case of a patient who developed RMS of the skull with EWSR1 fusion and anaplastic lymphoma kinase (ALK) and cytokeratin expression as cytomorphologic features. A 40-year-old man presented with a mass in his forehead. Surgical resection was performed, during which intraoperative frozen specimens were obtained. Squash cytology showed scattered or clustered spindle and epithelioid cells. IHC revealed that the resected tumor cells were positive for desmin, MyoD1, cytokeratin AE1/ AE3, and ALK. Although EWSR1 rearrangement was identified on fluorescence in situ hybridization, ALK, and TFCP2 rearrangement were not noted. Despite providing adjuvant chemoradiation therapy, the patient died of tumor progression 10 months after diagnosis. We emphasize that a subset of RMS can express cytokeratin and show characteristic histomorphology, implying the need for specific molecular examination.

Original Articles

Clinicopathologic characterization of cervical metastasis from an unknown primary tumor: a multicenter study in Korea: Miseon Lee, Uiree Jo, Joon Seon Song, Youn Soo Lee, Chang Gok Woo, Dong-Hoon Kim, Jung Yeon Kim, Sun Och Yoon, Kyung-Ja Cho; J Pathol Transl Med. 2023;57(3):166-177. Published online May 10, 2023; DOI: https://doi.org/10.4132/jptm.2023.04.12

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Background
Research regarding cervical metastasis from an unknown primary tumor (CUP) according to human papillomavirus (HPV) and Epstein-Barr virus (EBV) status in Korea has been sporadic and small-scale. This study aims to analyze and understand the characteristics of CUP in Korea according to viral and p16 and p53 status through a multicenter study.
Methods
Ninety-five cases of CUP retrieved from six hospitals in Korea between January 2006 and December 2016 were subjected to high-risk HPV detection (DNA in situ hybridization [ISH] or real-time polymerase chain reaction), EBV detection (ISH), and immunohistochemistry for p16 and p53.
Results
CUP was HPV-related in 37 cases (38.9%), EBV-related in five cases (5.3%), and unrelated to HPV or EBV in 46 cases (48.4%). HPV-related CUP cases had the best overall survival (OS) (p = .004). According to the multivariate analysis, virus-unrelated disease (p = .023) and longer smoking duration (p < .005) were prognostic factors for poor OS. Cystic change (p = .016) and basaloid pattern (p < .001) were more frequent in HPV-related cases, and lymphoepithelial lesion was frequent in EBV-related cases (p = .010). There was no significant association between viral status and p53 positivity (p = .341), smoking status (p = .728), or smoking duration (p = .187). Korean data differ from Western data in the absence of an association among HPV, p53 positivity, and smoking history.
Conclusions
Virus-unrelated CUP in Korea had the highest frequency among all CUP cases. HPV-related CUP is similar to HPV-mediated oropharyngeal cancer and EBVrelated CUP is similar to nasopharyngeal cancer in terms of characteristics, respectively.

Citations

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Expansion of tumor-infiltrating lymphocytes from head and neck squamous cell carcinoma to assess the potential of adoptive cell therapy
Sangjoon Choi, Mofazzal Hossain, Hyun Lee, Jina Baek, Hye Seon Park, Chae-Lyul Lim, DoYeon Han, Taehyun Park, Jong Hyeok Kim, Gyungyub Gong, Mi-Na Kweon, Hee Jin Lee
Cancer Immunology, Immunotherapy.2024;[Epub] CrossRef

Frequent apocrine changes in pleomorphic adenoma with malignant transformation: a possible pre-malignant step in ductal carcinoma ex pleomorphic adenoma: Joon Seon Song, Yeseul Kim, Yoon-Se Lee, Seung-Ho Choi, Soon Yuhl Nam, Sang Yoon Kim, Kyung-Ja Cho; J Pathol Transl Med. 2023;57(3):158-165. Published online May 10, 2023; DOI: https://doi.org/10.4132/jptm.2023.03.13

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Abstract PDF

Background
The most common type of carcinoma ex pleomorphic adenoma (CPA) is histologically equivalent to salivary duct carcinoma, which has an apocrine phenotype. Invasive CPA is often accompanied by non-invasive or in situ carcinoma, an observation that suggests the presence of precursor lesions. The aim of this study was to identify candidate precursor lesions of CPA within pleomorphic adenoma (PA).
Methods
Eleven resected cases of CPA with residual PA and 17 cases of PA with atypical changes were subjected to immunohistochemistry (IHC) for p53, human epidermal growth factor receptor 2 (HER2), androgen receptor (AR), pleomorphic adenoma gene 1, gross cystic disease fluid protein-15 (GCDFP-15), and anti-mitochondrial antibody.
Results
Invasive or in situ carcinoma cells in all CPAs were positive for AR, GCDFP-15, and HER2. Atypical foci in PAs corresponded to either apocrine or oncocytic changes on the basis of their reactivity to AR, GCDFP-15, and anti-mitochondrial antibody. Atypical cells in PAs surrounding CPAs had an apocrine phenotype without HER2 expression.
Conclusions
Our study identified frequent apocrine changes in residual PAs in CPA cases, suggesting a possible precursor role of apocrine changes. We recommend the use of HER2 IHC in atypical PAs, and that clinicians take HER2 positivity into serious consideration.

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Characterization of a Molecularly Distinct Subset of Oncocytic Pleomorphic Adenomas/Myoepitheliomas Harboring Recurrent ZBTB47-AS1::PLAG1 Gene Fusion
Ziyad Alsugair, Jimmy Perrot, Françoise Descotes, Jonathan Lopez, Anne Champagnac, Daniel Pissaloux, Claire Castain, Mihaela Onea, Philippe Céruse, Pierre Philouze, Charles Lépine, Marie-Delphine Lanic, Marick Laé, Valérie Costes-Martineau, Nazim Benzerdj
American Journal of Surgical Pathology.2024; 48(5): 551. CrossRef

Case Study

Hepatoid thymic carcinoma: a case report of a rare subtype of thymic carcinoma: Ji-Seon Jeong, Hyo Jeong Kang, Uiree Jo, Min Jeong Song, Soon Yeol Nam, Joon Seon Song; J Pathol Transl Med. 2021;55(3):230-234. Published online April 14, 2021; DOI: https://doi.org/10.4132/jptm.2021.03.10

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Abstract PDF

Hepatoid thymic carcinoma is an extremely rare subtype of primary thymus tumor resembling “pure” hepatoid adenocarcinomas with hepatocyte paraffin 1 (Hep-Par-1) expression. A 53-year-old man presented with voice change and a neck mass. Multiple masses involving the thyroid, cervical and mediastinal lymph nodes, and lung were detected on computed tomography. Papillary thyroid carcinoma was confirmed by biopsy, and the patient underwent neoadjuvant chemoradiation therapy. However, the anterior mediastinal mass was enlarged after the treatment whereas the multiple masses in the thyroid and neck decreased in size. Microscopically, polygonal tumor cells formed solid sheets or trabeculae resembling hepatocytes and infiltrated remnant thymus. The tumor cells showed immunopositivity for cytokeratin 7, cytokeratin 19, and Hep-Par-1 and negativity for α-fetoprotein. Possibilities of germ cell tumor, squamous cell carcinoma, and metastasis of thyroid papillary carcinoma were excluded by immunohistochemistry. This report on the new subtype of thymic carcinoma is the third in English literature thus far.

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Hepatoid thymic carcinoma in a polycythemia vera patient treated with ropeginterferon Alfa-2b: Clinical, histopathological and molecular correlates
Giuseppe G. Loscocco, Margherita Vannucchi, Raffaella Santi, Andrea Amorosi, Stefania Scarpino, Maria Chiara Siciliano, Paola Guglielmelli, Claudio Tripodo, Arianna Di Napoli, Alessandro M. Vannucchi
Pathology - Research and Practice.2024; 263: 155648. CrossRef
Hepatoid tumors of the gastrointestinal/pancreatobiliary district: morphology, immunohistochemistry, and molecular profiles
Paola Mattiolo, Aldo Scarpa, Claudio Luchini
Human Pathology.2023; 132: 169. CrossRef

Original Articles

Primary squamous cell carcinoma of the salivary gland: immunohistochemical analysis and comparison with metastatic squamous cell carcinoma: Uiree Jo, Joon Seon Song, Seung-Ho Choi, Soon Yuhl Nam, Sang Yoon Kim, Kyung-Ja Cho; J Pathol Transl Med. 2020;54(6):489-496. Published online August 31, 2020; DOI: https://doi.org/10.4132/jptm.2020.07.19

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Abstract PDF Supplementary Material

Background
Primary squamous cell carcinoma (SCC) of the salivary gland is a rare disease, and distinguishing primary SCC from metastatic SCC is difficult. This study investigated the histological and immunohistochemical differences between primary and metastatic salivary gland SCC to improve the accuracy of diagnosis and to explore the pathogenesis of this disease.
Methods
Data of 16 patients who underwent surgery for SCC of salivary glands between 2000 and 2018 at Asan Medical Center were retrieved. Eight patients had a history of SCC at other sites, and eight patients had only salivary gland SCC. Immunostaining for p16, p53, androgen receptor (AR), gross cystic disease fluid protein 15 (GCDFP-15), and c-erbB2, as well as mucicarmine staining, were compared between the two groups.
Results
Most tumors were located in the center of the salivary glands with extraparenchymal extension. The histology of primary SCC of the salivary gland was consistent with moderately differentiated SCC with extensive desmoplastic reaction and peritumoral inflammation. Involvement of the salivary gland ducts and transition into the ductal epithelium were observed in two cases. Metastatic SCC resembled the primary tumor histologically and was associated with central necrosis. Both groups exhibited negative mucin staining. Two, one, and one primary SCC case exhibited AR, GCDFP-15, and c-erbB2 positivity, respectively.
Conclusions
A subset of primary SCCs originated in salivary ducts or was related to salivary duct carcinoma. Distinguishing primary from metastatic SCC of the salivary gland is difficult using histologic features and immunoprofiles. A comprehensive review of the medical history is essential.

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Primary salivary gland squamous cell carcinoma with sialolithiasis in the submandibular gland: A case report and literature review
Sawako Ono, Katsutoshi Hirose, Yuji Hirata, Marie Yamada, Satoko Nakamura, Hidetaka Yamamoto
Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology.2024; 36(5): 768. CrossRef
A case of primary squamous cell carcinoma of the parotid gland and review of the literature
Jingli Zhao, Xinrong Nan, Chuhuan Zhou, Nan Jiang, Liangliang Tian
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Metastatic cutaneous squamous cell carcinoma accounts for nearly all squamous cell carcinomas of the parotid gland
Patrick J. Bradley, Göran Stenman, Lester D. R. Thompson, Alena Skálová, Roderick H. W. Simpson, Pieter J. Slootweg, Alessandro Franchi, Nina Zidar, Alfons Nadal, Henrik Hellquist, Michelle D. Williams, Ilmo Leivo, Abbas Agaimy, Alfio Ferlito
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Common skin cancers and their association with other non-cutaneous primary malignancies: a review of the literature
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Salivary duct carcinoma with squamous differentiation: histomorphological and immunophenotypical analysis of six cases
Melad N Dababneh, Christopher C Griffith, Kelly R Magliocca, Ivan J Stojanov
Histopathology.2024; 85(4): 590. CrossRef
Comprehensive Next Generation Sequencing Reveals that Purported Primary Squamous Cell Carcinomas of the Parotid Gland are Genetically Heterogeneous
Justin A. Bishop, Masato Nakaguro, Ilan Weinreb, Doreen Palsgrove, Lisa M. Rooper, Travis W. Vandergriff, Brian Carlile, Jeffrey A. Sorelle, Jeffrey Gagan, Toshitaka Nagao
Head and Neck Pathology.2024;[Epub] CrossRef
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Carla Saoud, Hansen Lam, Sandra I. Sanchez, Zahra Maleki
Diagnostic Histopathology.2023; 29(8): 357. CrossRef
Salivary gland pathologies: evolution in classification and association with unique genetic alterations
Michał Żurek, Łukasz Fus, Kazimierz Niemczyk, Anna Rzepakowska
European Archives of Oto-Rhino-Laryngology.2023; 280(11): 4739. CrossRef
A retrospective study of nonneoplastic and neoplastic disorders of the salivary glands
Sorin Vamesu, Oana Andreea Ursica, Ana Maria Gurita, Raluca Ioana Voda, Mariana Deacu, Mariana Aschie, Madalina Bosoteanu, Georgeta Camelia Cozaru, Anca Florentina Mitroi, Cristian Ionut Orasanu
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Raed Farhat, Noam Asna, Yaniv Avraham, Ashraf Khater, Majd Asakla, Alaa Safia, Sergio Szvalb, Nidal Elkhatib, Shlomo Merchavy
Discover Oncology.2022;[Epub] CrossRef
Morphologic CT and MRI features of primary parotid squamous cell carcinoma and its predictive factors for differential diagnosis with mucoepidermoid carcinoma
Xiaohua Ban, Huijun Hu, Yue Li, Lingjie Yang, Yu Wang, Rong Zhang, Chuanmiao Xie, Cuiping Zhou, Xiaohui Duan
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Pawan Hingnikar, Anendd Jadhav, Nitin D Bhola
Cureus.2022;[Epub] CrossRef
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Sangeun Lee, Yun Sung Lim, Kyuho Lee, Bo Hae Kim
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Naomi Hardy, Joshua Thompson, Ranee Mehra, Cinthia B. Drachenberg, Kyle Hatten, John C. Papadimitriou
International Journal of Surgical Pathology.2021; 29(7): 726. CrossRef
Intrasalivary Thymic Carcinoma: A Case Report and Literature Review
Michał Kunc, Alexandra Kamieniecki, Grzegorz Walczak, Tomasz Nowicki, Bartosz Wasąg, Bogusław Mikaszewski, Dominik Stodulski, Wojciech Biernat
Head and Neck Pathology.2021; 16(3): 857. CrossRef
Cancer Stem Cell Markers in Squamous Cell Carcinomas of the Salivary Glands
Mattis Bertlich, Julia Kitz, Marie Kruizenga, Jennifer Lee Spiegel, Martin Canis, Friedrich Ihler, Frank Haubner, Bernhard G. Weiss, Mark Jakob
Oncology.2021; 99(6): 402. CrossRef

Sarcoma metastasis to the pancreas: experience at a single institution: Miseon Lee, Joon Seon Song, Seung-Mo Hong, Se Jin Jang, Jihun Kim, Ki Byung Song, Jae Hoon Lee, Kyung-Ja Cho; J Pathol Transl Med. 2020;54(3):220-227. Published online April 22, 2020; DOI: https://doi.org/10.4132/jptm.2020.03.04

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Abstract PDF

Background
Reports of metastatic sarcoma to the pancreas are limited. We reviewed the clinicopathologic characteristics of such cases.
Methods
We reviewed 124 cases of metastatic tumors to the pancreas diagnosed at Asan Medical Center between 2000 and 2017.
Results
Metastatic tumors to the pancreas consisted of 111 carcinomas (89.5%), 12 sarcomas (9.6%), and one melanoma (0.8%). Primary sarcoma sites were bone (n = 4); brain, lung, and soft tissue (n = 2 for each); and the uterus and pulmonary vein (n = 1 for each). Pathologically, the 12 sarcomas comprised 2 World Health Organization grade III solitary fibrous tumors/hemangiopericytomas, and one case each of synovial sarcoma, malignant solitary fibrous tumor, undifferentiated pleomorphic sarcoma, osteosarcoma, mesenchymal chondrosarcoma, intimal sarcoma, myxofibrosarcoma, myxoid liposarcoma, rhabdomyosarcoma, subtype uncertain, and high-grade spindle-cell sarcoma of uncertain type. The median interval between primary cancer diagnosis and pancreatic metastasis was 28.5 months. One case manifested as a solitary pancreatic osteosarcoma metastasis 15 months prior to detection of osteosarcoma in the femur and was initially misdiagnosed as sarcomatoid carcinoma of the pancreas.
Conclusions
The metastatic sarcoma should remain a differential diagnosis when spindle-cell malignancy is found in the pancreas, even for solitary lesions or in patients without prior history.

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Metastatic clear cell sarcoma of the pancreas: A sporadic cancer
Vittorio Gebbia, Carlo Carnaghi
World Journal of Clinical Cases.2024; 12(18): 3291. CrossRef
Metastatic clear cell sarcoma of the pancreas: An overview
Rachid Ait Addi
World Journal of Clinical Cases.2024; 12(29): 6262. CrossRef
Myxofibrosarcoma with pancreatic metastasis, a case report and literature reviews
Kodai ABE, Yasutomo SEKIDO, Yasuo KABESHIMA
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Metástasis pancreática de sarcoma, un hallazgo infrecuente
Daniel Aparicio-López, Jorge Chóliz-Ezquerro, Carlos Hörndler-Algárate, Mario Serradilla-Martín
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Pancreatic metastasis from sarcoma, an infrequent finding
Daniel Aparicio-López, Jorge Chóliz-Ezquerro, Carlos Hörndler-Algárate, Mario Serradilla-Martín
Gastroenterología y Hepatología (English Edition).2023; 46(5): 376. CrossRef
Acute pancreatitis secondary to osteosarcoma metastasis
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First Recurrence of Synovial Sarcoma Presenting With Solitary Pancreatic Mass
Raja R Narayan, Greg W Charville, Daniel Delitto, Kristen N Ganjoo
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Could the burden of pancreatic cancer originate in childhood?
Smaranda Diaconescu, Georgiana Emmanuela Gîlcă-Blanariu, Silvia Poamaneagra, Otilia Marginean, Gabriela Paduraru, Gabriela Stefanescu
World Journal of Gastroenterology.2021; 27(32): 5322. CrossRef
Staged Surgical Resection of Primary Pulmonary Synovial Sarcoma with Synchronous Multiple Pancreatic Metastases: Report of a Rare Case and Review of the Literature
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Comparison of Squamous Cell Carcinoma of the Tongue between Young and Old Patients: Gyuheon Choi, Joon Seon Song, Seung-Ho Choi, Soon Yuhl Nam, Sang Yoon Kim, Jong-Lyel Roh, Bu-Kyu Lee, Kyung-Ja Cho; J Pathol Transl Med. 2019;53(6):369-377. Published online October 11, 2019; DOI: https://doi.org/10.4132/jptm.2019.09.16

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Background
The worldwide incidence of squamous cell carcinoma of the tongue (SCCOT) in young patients has been increasing. We investigated clinicopathologic features of this unique population and compared them with those of SCCOT in the elderly to delineate its pathogenesis.
Methods
We compared clinicopathological parameters between patients under and over 45 years old. Immunohistochemical assays of estrogen receptor, progesterone receptor, androgen receptor, p53, p16, mdm2, cyclin D1, and glutathione S-transferase P1 were also compared between them.
Results
Among 189 cases, 51 patients (27.0%) were under 45 years of age. A higher proportion of women was seen in the young group, but was not statistically significant. Smoking and drinking behaviors between age groups were similar. Histopathological and immunohistochemical analysis showed no significant difference by age and sex other than higher histologic grades observed in young patients.
Conclusions
SCCOT in young adults has similar clinicopathological features to that in the elderly, suggesting that both progress via similar pathogenetic pathways.

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High Failure Rates in Young Nonsmoker Nondrinkers With Squamous Cell Carcinoma of the Oral Tongue
Brianna M. Jones, Dillan F. Villavisanis, Eric J. Lehrer, Daniel R. Dickstein, Kunal K. Sindhu, Krzysztof J. Misiukiewicz, Marshall Posner, Jerry T. Liu, Vishal Gupta, Sonam Sharma, Scott A. Roof, Marita Teng, Eric M. Genden, Richard L. Bakst
The Laryngoscope.2023; 133(5): 1110. CrossRef
Characteristics of oral squamous cell carcinoma focusing on cases unaffected by smoking and drinking: A multicenter retrospective study
Hiroyuki Harada, Masahiro Kikuchi, Ryo Asato, Kiyomi Hamaguchi, Hisanobu Tamaki, Masanobu Mizuta, Ryusuke Hori, Tsuyoshi Kojima, Keigo Honda, Takashi Tsujimura, Yohei Kumabe, Kazuyuki Ichimaru, Yoshiharu Kitani, Koji Ushiro, Morimasa Kitamura, Shogo Shino
Head & Neck.2023; 45(7): 1812. CrossRef
Genetic characteristics of advanced oral tongue squamous cell carcinoma in young patients
Sehui Kim, Chung Lee, Hyangmi Kim, Sun Och Yoon
Oral Oncology.2023; 144: 106466. CrossRef
Oral Squamous Cell Carcinoma Frequency in Young Patients from Referral Centers Around the World
Rafael Ferreira e Costa, Marina Luiza Baião Leão, Maria Sissa Pereira Sant’Ana, Ricardo Alves Mesquita, Ricardo Santiago Gomez, Alan Roger Santos-Silva, Syed Ali Khurram, Artysha Tailor, Ciska-Mari Schouwstra, Liam Robinson, Willie F. P. van Heerden, Rami
Head and Neck Pathology.2022; 16(3): 755. CrossRef
Early-onset oral cancer as a clinical entity: aetiology and pathogenesis
E.S. Kolegova, M.R. Patysheva, I.V. Larionova, I.K. Fedorova, D.E. Kulbakin, E.L. Choinzonov, E.V. Denisov
International Journal of Oral and Maxillofacial Surgery.2022; 51(12): 1497. CrossRef
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Alaa S Saeed, Bashar H Abdullah
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Mohssen Ansarin, Rita De Berardinis, Federica Corso, Gioacchino Giugliano, Roberto Bruschini, Luigi De Benedetto, Stefano Zorzi, Fausto Maffini, Fabio Sovardi, Carolina Pigni, Donatella Scaglione, Daniela Alterio, Maria Cossu Rocca, Susanna Chiocca, Sara
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Khadijah Mohideen, C. Krithika, Nadeem Jeddy, Thayumanavan Balakrishnan, R. Bharathi, S. Leena Sankari
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Review

Provisional Guideline Recommendation for EGFR Gene Mutation Testing in Liquid Samples of Lung Cancer Patients: A Proposal by the Korean Cardiopulmonary Pathology Study Group: Dong Hoon Shin, Hyo Sup Shim, Tae Jung Kim, Heae Surng Park, Yun La Choi, Wan Seop Kim, Lucia Kim, Sun Hee Chang, Joon Seon Song, Hyo jin Kim, Jung Ho Han, Chang Hun Lee, Geon Kook Lee, Se Jin Jang; J Pathol Transl Med. 2019;53(3):153-158. Published online February 28, 2019; DOI: https://doi.org/10.4132/jptm.2019.02.22

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Abstract PDF

Liquid biopsy for detection of mutation from circulating tumor DNA is a new technology which is attractive in that it is non-invasive. Epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKI) is an effective first line drug for advanced non-small cell lung cancer patients who harbor activating EGFR mutation. During the course of treatment, resistance against TKI arises which can be contributed to EGFR T790M mutation in about 50–60% of patients. Third generation TKI may overcome the resistance. In patients who cannot undergo tissue biopsy due to variable reasons, liquid biopsy is an excellent alternative for the detection of EGFR T790M mutation. However, this relatively novel method requires standardization and vigorous quality insurance. Thus, a standard set of guideline recommendations for liquid biopsy for EGFR mutation testing suitable for the Korean medical community is necessary. In this article, we propose a set of provisional guideline recommendations that was discussed and approved by the Cardiopulmonary Pathology Study Group of the Korean Society of Pathologists.

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Prevalence of T790M mutation among TKI-therapy resistant Lebanese lung cancer patients based on liquid biopsy analysis: a first report from a major tertiary care center
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Case Studies

Malignant Solitary Fibrous Tumor with Heterologous Rhabdomyosarcomatous Differentiation: A Case Report: Jeong-Hwa Kwon, Joon Seon Song, Hye Won Jung, Jong-Seok Lee, Kyung-Ja Cho; J Pathol Transl Med. 2017;51(2):171-175. Published online February 3, 2017; DOI: https://doi.org/10.4132/jptm.2016.08.29

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Abstract PDF

Malignant solitary fibrous tumor (MSFT) is a well-described entity, from which heterologous differentiation is extremely rare. We encountered a case of MSFT with rhabdomyosarcomatous differentiation in a 56-year-old man. This patient presented with a large mass in his posterior thigh. He had been treated with chemoradiation for sarcoma involving the cervical spine, right femoral head, and both lungs 6 months earlier. A wide excision was performed. The mass measured 10.6 cm and showed a fish-flesh cut surface with necrotic foci. Microscopically, the tumor showed heterogeneous cellularity with a hemangiopericytic vascular pattern. A hypercellular area showed spindle cells or epithelioid cells with high mitotic activity (63/10 high-power fields) and immunoreactivity for CD34 and CD99. A hypocellular area and a cystic area showed pleomorphic rhabdoid cells with immunoreactivity for desmin and myogenin. This is a report of a rare case of MSFT with rhabdomyosarcomatous differentiation and presents new histologic features of MSFT.

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Mammary-Type Myofibroblastoma: A Report of Two Cases: Soyeon An, Joon Seon Song, Soonchan Park, Jung Won Lee, Kyung-Ja Cho; J Pathol Transl Med. 2016;50(5):385-389. Published online June 6, 2016; DOI: https://doi.org/10.4132/jptm.2016.03.26

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Abstract PDF

Mammary-type myofibroblastoma (MFB) is a rare, benign spindle cell neoplasm occurring along the milkline, with extension from the mid-axilla to the medial groin. It is histologically and immunohistochemically identical to MFB of the breast and is part of a spectrum of lesions that includes spindle cell lipoma and cellular angiofibroma. Recently, we experienced two cases of mammary-type MFB involving male patients aged 30 and 58 years, respectively. The tumors were located in the right scrotal sac and in the right axilla. Wide excisions were performed. Microscopically, the masses were composed of haphazardly arranged, variably sized fascicles of bland spindle cells and were admixed with mature fat tissue. The spindle cells in both cases showed immunopositivity for desmin and CD34 and negativity for smooth muscle actin. Loss of retinoblastoma (RB)/13q14 loci is a characteristic genetic alteration of mammary-type MFB, and we identified loss of RB protein expression by immunohistochemical staining. We emphasize the importance of awareness of this rare neoplasm when a spindle cell neoplasm is accompanied by desmin immunopositivity. The second patient was alive without recurrence for 20 months, and the first patient had not been followed.

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Original Articles

Accuracy of Core Needle Biopsy Versus Fine Needle Aspiration Cytology for Diagnosing Salivary Gland Tumors: In Hye Song, Joon Seon Song, Chang Ohk Sung, Jong-Lyel Roh, Seung-Ho Choi, Soon Yuhl Nam, Sang Yoon Kim, Jeong Hyun Lee, Jung Hwan Baek, Kyung-Ja Cho; J Pathol Transl Med. 2015;49(2):136-143. Published online March 12, 2015; DOI: https://doi.org/10.4132/jptm.2015.01.03

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Abstract PDF

Background
Core needle biopsy is a relatively new technique used to diagnose salivary gland lesions, and its role in comparison with fine needle aspiration cytology needs to be refined. Methods: We compared the results of 228 ultrasound-guided core needle biopsy and 371 fine needle aspiration procedures performed on major salivary gland tumors with their postoperative histological diagnoses. Results: Core needle biopsy resulted in significantly higher sensitivity and more accurate tumor subtyping, especially for malignant tumors, than fine needle aspiration. No patient developed major complications after core needle biopsy. Conclusions: We recommend ultrasoundguided core needle biopsy as the primary diagnostic tool for the preoperative evaluation of patients with salivary gland lesions, especially when malignancy is suspected.

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Mdm2 and p53 Expression in Radiation-Induced Sarcomas of the Head and Neck: Comparison with De Novo Sarcomas: Min Jeong Song, Joon Seon Song, Jong-Lyel Roh, Seung-Ho Choi, Soon Yuhl Nam, Sang Yoon Kim, Sung Bae Kim, Sang-wook Lee, Kyung-Ja Cho; Korean J Pathol. 2014;48(5):346-350. Published online October 27, 2014; DOI: https://doi.org/10.4132/KoreanJPathol.2014.48.5.346

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Abstract PDF

Background: The pathogenesis of radiation-induced sarcomas (RISs) is not well known. In RIS, TP53 mutations are frequent, but little is known about Mdm2-p53 interaction, which is a recent therapeutic target of sarcomas. Methods: We studied the immunohistochemical expression of Mdm2 and p53 of 8 RISs. The intervals between radiation therapy and diagnosis of secondary sarcomas ranged from 3 to 17 years. Results: Mdm2 expression was more common in de novo sarcomas than RISs (75% vs 37.5%), and p53 expression was more common in RISs than in de novo cases (75% vs 37.5%). While half of the RISs were Mdm2(–)/p53(+), none of de novo cases showed such combination; while half of de novo sarcomas were Mdm2(+)/p53(–), which are a candidate group of Mdm2 inhibitors, only 1 RIS showed such a combination. Variable immunoprofiles observed in both groups did not correlate with tumor types, except that all of 2 myxofibrosarcomas were Mdm2(+)/p53(+). Conclusions: In conclusion, we speculated that both radiation- induced and de novo sarcomagenesis are not due to a unique genetic mechanism. Mdm2- expression without p53 overexpression in 1 case of RIS decreases the future possibility of applying Mdm2 inhibitors on a subset of these difficult tumors.

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Radiation-Induced Sarcomas of the Head and Neck: A Systematic Review
Andrés Coca-Pelaz, Antti A. Mäkitie, Primož Strojan, June Corry, Avraham Eisbruch, Jonathan J. Beitler, Sandra Nuyts, Robert Smee, Johannes A. Langendijk, William M. Mendenhall, Cesare Piazza, Alessandra Rinaldo, Alfio Ferlito
Advances in Therapy.2021; 38(1): 90. CrossRef
Genomic Characterization of Radiation-Induced Intracranial Undifferentiated Pleomorphic Sarcoma
Christopher S. Hong, Edwin Partovi, James Clune, Anita Huttner, Henry S. Park, Sacit Bulent Omay, Balraj Mittal
Case Reports in Genetics.2021; 2021: 1. CrossRef
Radiation-Induced Sarcoma of the Head and Neck: A Review of the Literature
Lorenzo Giannini, Fabiola Incandela, Marco Fiore, Alessandro Gronchi, Silvia Stacchiotti, Claudia Sangalli, Cesare Piazza
Frontiers in Oncology.2018;[Epub] CrossRef

Finding and Characterizing Mammary Analogue Secretory Carcinoma of the Salivary Gland: Min Jung Jung, Joon Seon Song, Sang Yoon Kim, Soon Yuhl Nam, Jong-Lyel Roh, Seung-Ho Choi, Sung-Bae Kim, Kyung-Ja Cho; Korean J Pathol. 2013;47(1):36-43. Published online February 25, 2013; DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.1.36

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Abstract PDF

Background

A new tumor entity of the salivary glands, mammary analogue secretory carcinoma (MASC) with ETV6-NTRK3 translocation, has recently been proposed. MASC was originally diagnosed as adenocarcinoma, not otherwise specified (ANOS), or acinic cell carcinoma (AciCC) by the current World Health Organization classification. We aimed to identify MASC cases by molecular tests, and to characterize their clinical, histological, and immunohistochemical features.

Methods

Thirty cases of MASC candidates were selected after review of 196 salivary gland tumors, and subjected to break-apart ETV6 fluorescence in situ hybridization (FISH), and immunohistochemical study for S100 protein, gross cystic disease fluid protein 15, DOG1, estrogen receptor, and progesterone receptor.

Results

Valid FISH results were obtained in 23 cases, and 13 positive cases were retrieved. MASCs were histologically varied, and the most frequent features observed in 10 cases were low-grade papillary/cystic/glandular patterns, intraluminal secretory materials, ovoid/wrinkled nuclei, and relatively abundant granular eosinophilic cytoplasms, corresponding to papillary-cystic or follicular types of AciCC. All cases showed diffuse immunopositivity for S100 protein. Three cases developed recurrences, but all patients remained alive.

Conclusions

MASC could be a molecularly well-defined salivary gland neoplasm, encompassing some portions of AciCC and ANOS, but its histological spectrum and clinical implication require further investigation.

Citations

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Case Reports

Cellular Pseudosarcomatous Fibroepithelial Stromal Polyp of the Vagina during Pregnancy: A Lesion That Is Overdiagnosed as a Malignant Tumor: Joon Seon Song, Dong Eun Song, Kyu-Rae Kim, Jae Y. Ro; Korean J Pathol. 2012;46(5):494-498. Published online October 25, 2012; DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.5.494

9,665 View
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Abstract PDF

Fibroepithelial stromal polyp (FSP) is a benign lesion that can occur at various sites, including the lower female genital tract. In rare cases, however, it may exhibit hypercellularity, bizarre cytomorphological features, and atypical mitoses resulting in an overdiagnosis as a malignant tumor despite its benign clinical course. Recently, we experienced one case of a 30-year-old pregnant woman with cellular pseudosarcomatous FSP that was initially diagnosed as a malignant fibrous histiocytoma at a primary clinic. In addition to describing the rare features of this case, we wish to increase awareness about this benign lesion which will be essential for avoiding unnecessary radical surgery or chemoradiation treatment.

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Fibroepithelial Polyp of the Vagina With Torsion: A Difficult Diagnosis Based on Clinical and Morphological Findings of the Vaginal Lesion
Efthymia Thanasa, Anna Thanasa, Gerasimos Kontogeorgis, Ektoras-Evangelos Gerokostas, Ioannis-Rafail Antoniou, Athanasios Chasiotis, Emmanouil M Xydias, Apostolos C Ziogas, Evangelos Kamaretsos, Ioannis Thanasas
Cureus.2024;[Epub] CrossRef
Recurrent fibroepithelial vaginal polyp in a two-year-old girl: A case report and review of the literature
Mohammad Hakam Shehadeh, Ahmad Abualrub, Waleed Malhes, Amar Msarweh, Wael Amro
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Endoscopic Ultrasound-Guided Fine Needle Aspiration Cytology Diagnosis of Solid Pseudopapillary Neoplasm: Three Case Reports with Review of Literature: Joon Seon Song, Chong Woo Yoo, Youngmee Kwon, Eun Kyung Hong; Korean J Pathol. 2012;46(4):399-406. Published online August 23, 2012; DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.4.399

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Abstract PDF

Solid pseudopapillary neoplasm of the pancreas (SPN) is relatively rare and it occurs almost exclusively in women. We recently experienced three cases of SPN diagnosed by endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA). These three cases were two male and one female patient whose age was 29, 37, and 44 years old. Radiological diagnosis was pancreatic endocrine tumor (PEN) showing solid with a heterogenous echogenicity. EUS-FNA cytology specimens consisted of single cells and aggregates of uniform cells, forming microadenoid structures, branching, papillary clusters with delicate fibrovascular cores. In conclusion, a single diagnosis of SPN based on clinical and radiological findings would be risky because there is a possibility of it being misdiagnosed as PEN or other malignancies. An EUS-FNA is therefore essential for establishing the diagnosis. In addition, the pathologists should recognize the characteristic cytologic findings with immunoprofiles of SPN to prevent misdiagnosis of SPN.

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Yunqiang Cai, Xun Ran, Siming Xie, Xin Wang, Bing Peng, Gang Mai, Xubao Liu
Journal of Gastrointestinal Surgery.2014; 18(5): 935. CrossRef
A case of solid-pseudopapillary neoplasm in a middle-aged male preoperatively diagnosed by endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA)
Shin KATO, Takuya HONBU, Moriya ZAKIMI, Kenji CHINEN, Tomiaki KUBOTA, Masayuki ARASHIRO, Kaoru KIKUCHI, Takahiro MURAKAMI, Fumihito KUNISHIMA
Suizo.2014; 29(2): 263. CrossRef
Endoscopic ultrasound-guided fine needle aspiration improves the pre-operative diagnostic yield of solid-pseudopapillary neoplasm of the pancreas: an international multicenter case series (with video)
Joanna K. Law, Alina Stoita, Wallia Weaver, Ferga C. Gleeson, Andrew M. Dries, Amanda Blackford, Vandhana Kiswani, Eun Ji Shin, Mouen A. Khashab, Marcia Irene Canto, Vikesh K. Singh, Anne Marie Lennon
Surgical Endoscopy.2014; 28(9): 2592. CrossRef
Multiple Diagnostic Imaging of a Patient with Solid Pseudopapillary Tumour of the Pancreas: EUS, CT and FDG PET/CT
Ari Chong, Jung-Min Ha, Seong Young Kwon
Nuclear Medicine and Molecular Imaging.2014; 48(1): 82. CrossRef

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