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

A sinonasal yolk sac tumor in an adult: Jaehoon Shin, Ji Heui Kim, Kyeong Cheon Jung, Kyung-Ja Cho; J Pathol Transl Med. 2022;56(3):152-156. Published online January 26, 2022; DOI: https://doi.org/10.4132/jptm.2021.12.09

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Abstract PDF

Yolk sac tumors (YSTs), which are also called endodermal sinus tumors, are malignant tumors of germ cell origin. These tumors usually occur in the gonads, but 20% of cases have been reported at extragonadal sites. The head and neck is a rarely affected region that accounts for just 1% of all malignant tumors of germ cell origin. In addition, YSTs arise mostly in childhood. We present a rare pathologically pure case of primary adult YST in the sinonasal area. A 45-year-old male patient presented with a rapidly growing mass in the nasal cavity, which caused nasal obstruction and bloody post-nasal drip. The histopathologic features indicated pure YST, and immunohistochemical analysis revealed positive reactivity for Sal-like protein 4 and alpha-fetoprotein. Herein, we discuss the clinical, radiologic, and histologic features of this YST and review other cases of sinonasal YST in adults.

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International Consensus Statement on Allergy and Rhinology: Sinonasal Tumors
Edward C. Kuan, Eric W. Wang, Nithin D. Adappa, Daniel M. Beswick, Nyall R. London, Shirley Y. Su, Marilene B. Wang, Waleed M. Abuzeid, Borislav Alexiev, Jeremiah A. Alt, Paolo Antognoni, Michelle Alonso‐Basanta, Pete S. Batra, Mihir Bhayani, Diana Bell,
International Forum of Allergy & Rhinology.2024; 14(2): 149. CrossRef
Yolk sac tumor of postpubertal-type does not exhibit immunohistochemical loss of SMARCB1/INI1 and SMARCA4/BRG1…but choriocarcinoma?
Costantino Ricci, Francesca Ambrosi, Tania Franceschini, Francesca Giunchi, Eugenia Franchini, Francesco Massari, Veronica Mollica, Federico Mineo Bianchi, Maurizio Colecchia, Andres Martin Acosta, Michelangelo Fiorentino
Pathology - Research and Practice.2023; 241: 154269. CrossRef
Pure yolk sac tumor primarily in the nasal cavity: A case report
Zijun Liu, Baohong Wen, Yan Zhang
Asian Journal of Surgery.2023; 46(10): 4712. CrossRef
A case of Yolk sac tumor arising from paranasal sinus
Kaori Shinomura, Munehito Moriyama, Keigo Fujita, Takashi Hirano, Masashi Suzuki
JOURNAL OF JAPAN SOCIETY FOR HEAD AND NECK SURGERY.2023; 33(1): 41. CrossRef
A Novel Successful Case of Nasal and Sinus Yolk Sac Tumor With SMARCB1 (INI-1) Deficiency: A Case Report
Tianyu He, Zhiyu Wang, Hongbo Su, Sihan Li, Zheng He
Cureus.2022;[Epub] 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
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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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Comprehensive Next Generation Sequencing Reveals that Purported Primary Squamous Cell Carcinomas of the Parotid Gland are Genetically Heterogeneous
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Carla Saoud, Hansen Lam, Sandra I. Sanchez, Zahra Maleki
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Salivary gland pathologies: evolution in classification and association with unique genetic alterations
Michał Żurek, Łukasz Fus, Kazimierz Niemczyk, Anna Rzepakowska
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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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Pawan Hingnikar, Anendd Jadhav, Nitin D Bhola
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Naomi Hardy, Joshua Thompson, Ranee Mehra, Cinthia B. Drachenberg, Kyle Hatten, John C. Papadimitriou
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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
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Rachid Ait Addi
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Pancreatic metastasis from sarcoma, an infrequent finding
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Revista Española de Enfermedades Digestivas.2023;[Epub] CrossRef
First Recurrence of Synovial Sarcoma Presenting With Solitary Pancreatic Mass
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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
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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
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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
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E.S. Kolegova, M.R. Patysheva, I.V. Larionova, I.K. Fedorova, D.E. Kulbakin, E.L. Choinzonov, E.V. Denisov
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Khadijah Mohideen, C. Krithika, Nadeem Jeddy, Thayumanavan Balakrishnan, R. Bharathi, S. Leena Sankari
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Primary Rhabdomyosarcoma of the Breast: Study of Three Cases at One Institution with a Review of Primary Breast Sarcomas: Junyoung Shin, Hee Jeong Kim, Dae-Yeon Kim, Gyungyub Gong, Kyung-Ja Cho; J Pathol Transl Med. 2019;53(5):308-316. Published online August 2, 2019; DOI: https://doi.org/10.4132/jptm.2019.07.22

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Abstract PDF

Background
Primary breast sarcoma (PBS) is rare, comprising approximately 1% of breast malignancies. Rhabdomyosarcoma (RMS) accounts for an extremely small proportion of PBSs, often leading to delayed histologic confirmation.
Methods
Upon reviewing Asan Medical Center’s pathology database between 2000 and 2018, 41 PBS cases were retrieved, including three cases of primary RMS of the breast. Their clinicopathological features were analyzed, and the literature related to PBS and primary RMS of the breast was reviewed.
Results
We identified three primary breast RMS cases from our institution database, comprising 7.3% of PBS: one case each of spindle cell/sclerosing RMS (ssRMS), alveolar RMS (aRMS), and embryonal RMS (eRMS). All cases involved adolescents or young adults (14, 16, and 25 years, respectively) who underwent mastectomy or radiotherapy and were confirmed using immunohistochemical testing for myogenin, desmin, and myogenic differentiation. The ssRMS patient experienced recurrence at the operation site 4 months post-surgery despite undergoing concurrent chemoradiotherapy. The aRMS patient had multiple metastases at diagnosis and showed FAX3-FOXO1 fusion transcripts; she died 22 months after the diagnosis. The eRMS patient had enlarged axillary lymph nodes; post-radiotherapy, the lesion recurred as multiple metastases to the bone and lung. She died 18 months post-diagnosis.
Conclusions
Our experience on RMS cases suggests that spindle cell or small round cell malignancy in breasts of young female should raise suspicion for the possibility of primary or secondary RMS. To our knowledge, this is the second report of primary breast ssRMS and it may help clinicians who encounter this rare disease in the future.

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Cătălin Bogdan Satală, Ioan Jung, Tivadar Jr Bara, Patricia Simu, Iunius Simu, Madalina Vlad, Rita Szodorai, Simona Gurzu
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Case Study

WITHDRAWN:Primary Rhabdomyosarcoma of the Breast: A Report of Two Cases and Literature Review: Junyoung Shin, Hee Jeong Kim, Dae-Yeon Kim, Gyungyub Gong, Kyung-Ja Cho; Received August 6, 2018 Accepted September 13, 2018 Published online October 4, 2018; DOI: https://doi.org/10.4132/jptm.2018.09.14

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Primary Alveolar Rhabdomyosarcoma of the Breast in an Adult: An Extremely Rare Case
Helen J. Trihia, Natasa Novkovic, Ioannis Provatas, Anastasios Mavrogiorgis, Evangelos Lianos
Case Reports in Pathology.2019; 2019: 1. CrossRef

Original Article

Basaloid Squamous Cell Carcinoma of the Head and Neck: Subclassification into Basal, Ductal, and Mixed Subtypes Based on Comparison of Clinico-pathologic Features and Expression of p53, Cyclin D1, Epidermal Growth Factor Receptor, p16, and Human Papillomavirus: Kyung-Ja Cho, Se Un Jeong, Sung Bae Kim, Sang-wook Lee, Seung-Ho Choi, Soon Yuhl Nam, Sang Yoon Kim; J Pathol Transl Med. 2017;51(4):374-380. Published online June 8, 2017; DOI: https://doi.org/10.4132/jptm.2017.03.03

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Abstract PDF

Background
Basaloid squamous cell carcinoma (BSCC) is a rare variant of squamous cell carcinoma with distinct pathologic characteristics. The histogenesis of BSCC is not fully understood, and the cancer has been suggested to originate from a totipotent primitive cell in the basal cell layer of the surface epithelium or in the proximal duct of secretory glands.
Methods
Twenty-six cases of head and neck BSCC from Asan Medical Center, Seoul, Korea, reported during a 14-year-period were subclassified into basal, ductal, and mixed subtypes according to the expression of basal (cytokeratin [CK] 5/6, p63) or ductal markers (CK7, CK8/18). The cases were also subject to immunohistochemical study for CK19, p53, cyclin D1, epidermal growth factor receptor (EGFR), and p16 and to in situ hybridization for human papillomavirus (HPV), and the results were clinico-pathologically compared.
Results
Mixed subtype (12 cases) was the most common, and these cases showed hypopharyngeal predilection, older age, and higher expression of CK19, p53, and EGFR than other subtypes. The basal subtype (nine cases) showed frequent comedo-necrosis and high expression of cyclin D1. The ductal subtype (five cases) showed the lowest expression of p53, cyclin D1, and EGFR. A small number of p16- and/or HPV-positive cases were not restricted to one subtype. BSCC was the cause of death in 19 patients, and the average follow-up period for all patients was 79.5 months. Overall survival among the three subtypes was not significantly different.
Conclusions
The results of this study suggest a heterogeneous pathogenesis of head and neck BSCC. Each subtype showed variable histology and immunoprofiles, although the clinical implication of heterogeneity was not determined in this study.

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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 Article

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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Brief Case Report

Combined Squamous Cell Carcinoma and Follicular Carcinoma of the Thyroid: Da Hye Son, Jong-Lyel Roh, Kyung-Ja Cho; Korean J Pathol. 2014;48(6):418-422. Published online December 31, 2014; DOI: https://doi.org/10.4132/KoreanJPathol.2014.48.6.418

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Open Life Sciences.2022; 17(1): 1148. CrossRef
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Original Article

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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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.

Citations

Citations to this article as recorded by

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

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