Journal of Pathology and Translational Medicine

Case Studies

Uncommon granulomatous manifestation in Epstein-Barr virus–positive follicular dendritic cell sarcoma: a case report: Henry Goh Di Shen, Yue Zhang, Wei Qiang Leow; Received July 1, 2024 Accepted September 26, 2024 Published online October 31, 2024; DOI: https://doi.org/10.4132/jptm.2024.09.27 [Epub ahead of print]

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Abstract PDF: Hepatic Epstein-Barr virus–positive inflammatory follicular dendritic cell sarcoma (EBV+ IFDCS) represents a rare form of liver malignancy. The absence of distinct clinical and radiological characteristics, compounded by its rare occurrence, contributes to a challenging diagnosis. Here, we report a case of a 54-year-old Chinese female with a background of chronic hepatitis B virus treated with entecavir and complicated by advanced fibrosis presenting with a liver mass found on her annual surveillance ultrasound. Hepatectomy was performed under clinical suspicion of hepatocellular carcinoma. Immunomorphologic characteristics of the tumor were consistent with EBV+ IFDCS with distinct non-caseating granulomatous inflammation. Our case illustrates the importance of considering EBV+ IFDCS in the differential diagnosis of hepatic inflammatory lesions. Awareness of this entity and its characteristic features is essential for accurately diagnosing and managing this rare neoplasm.

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.

Primary epithelioid inflammatory myofibroblastic sarcoma of the brain with EML4::ALK fusion mimicking intra-axial glioma: a case report and brief literature review: Eric Eunshik Kim, Chul-Kee Park, Koung Mi Kang, Yoonjin Kwak, Sung-Hye Park, Jae-Kyung Won; J Pathol Transl Med. 2024;58(3):141-145. Published online May 14, 2024; DOI: https://doi.org/10.4132/jptm.2024.04.12

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Abstract PDF: An aggressive subtype of inflammatory myofibroblastic tumor, epithelioid inflammatory myofibroblastic sarcoma occurs primarily inside the abdominal cavity, followed by a pulmonary localization. Most harbor anaplastic lymphoma kinase (ALK) gene rearrangements, with RANBP2 and RRBP1 among the well-documented fusion partners. We report the second case of primary epithelioid inflammatory myofibroblastic sarcoma of the brain, with a well-known EML4::ALK fusion. The case is notable for its intra-axial presentation that clinico-radiologically mimicked glioma.

Primary leiomyosarcoma of the bone: a case report: Ala Abu-Dayeh, Samir Alhyassat; J Pathol Transl Med. 2024;58(1):35-39. Published online January 10, 2024; DOI: https://doi.org/10.4132/jptm.2023.11.14

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Abstract PDF: Primary leiomyosarcoma of the bone is rare. Histologically, it resembles leiomyosarcoma of soft tissue. Given the rarity of this entity, its diagnosis should be made only after clinical studies and workup have excluded metastasis from other sites. Herein, we describe an additional case of primary bone leiomyosarcoma. We report a 32-year-old female patient, who presented with right knee pain and was found to have a right distal femur mass by imaging studies. Biopsy showed a neoplasm composed of fascicles of spindle cells, arranged in different patterns, with significant pleomorphism. The tumor cells were positive for smooth muscle actin, focally positive for desmin and H-caldesmon. No other masses in the body were detected by imaging studies. The diagnosis of leiomyosarcoma of the bone was rendered. Given the broad diagnostic differential of primary bone leiomyosarcoma, it is important to be aware of this rare bone tumor phenotype and of its histomorphologic and immunohistochemical features for an accurate diagnosis.

Original Articles

A clinicopathologic and immunohistochemical study of primary and secondary breast angiosarcoma: Evi Abada, Hyejeong Jang, Seongho Kim, Rouba Ali-Fehmi, Sudeshna Bandyopadhyay; J Pathol Transl Med. 2022;56(6):342-353. Published online October 27, 2022; DOI: https://doi.org/10.4132/jptm.2022.08.31

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Abstract PDF Supplementary Material

Background
We aimed to study the clinicopathologic and immunohistochemical (IHC) (CD117, c-Myc, and p53) characteristics, and overall survival of primary and secondary breast angiosarcoma (BAS).
Methods
This was a retrospective study of BAS cases diagnosed between 1997 and 2020 at our institution. Hematoxylin and eosin-stained slides were reviewed for tumor morphology, margin status, and lymph node metastasis. CD117, p53, D2-40, CD31, and c-Myc IHC stains were performed on 11 viable tissue blocks. Additional clinical information was obtained from the electronic medical records.
Results
Seventeen patients with BAS were identified. Of these, five (29%) were primary and 12 (71%) were secondary BAS, respectively. The median age at diagnosis for primary BAS was 36 years. The median age at diagnosis for secondary BAS was 67 years. The median time to secondary BAS development following radiotherapy was 6.5 years (range, 2 to 12 years). There was no significant difference between primary and secondary BAS in several histopathologic parameters examined, including histologic grade, necrosis, mitotic count, lymph node metastasis, and positive tumor margins. There was also no difference in CD117, p53, D2-40, CD31, and c-Myc expression by IHC between primary and secondary BAS. During a median followup of 21 months, primary BAS had two (40%) reported deaths and secondary BAS had three (25%) reported deaths. However, this difference in survival between both groups was not statistically significant (hazard ratio, 0.51; 95% confidence interval, 0.09 to 3.28; p = .450).
Conclusions
BAS is a rare and aggressive disease. No histologic, IHC (CD117, c-Myc, and p53), or survival differences were identified between primary and secondary BAS in this study.

Citations

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Etiology, pathogenesis, and management of angiosarcoma associated with implants and foreign body: Clinical cases and research updates
Ramy Samargandi
Medicine.2024; 103(18): e37932. CrossRef
Ovarian angiosarcoma: A systematic review of literature and survival analysis
Shafi Rehman, Arya Harikrishna, Amisha Silwal, B.R. Sumie, Safdar Mohamed, Nisha Kolhe, Meghana Maddi, Linh Huynh, Jesus Gutierrez, Yoshita Rao Annepu, Ameer Mustafa Farrukh
Annals of Diagnostic Pathology.2024; 73: 152331. CrossRef
Neoadjuvant chemotherapy for radiation associated angiosarcoma (RAAS) of the breast: A retrospective single center study
Stijn J.C. van der Burg, Sophie J.M. Reijers, Anke Kuijpers, Lotte Heimans, Astrid N. Scholten, Rick L.M. Haas, Hester van Boven, Willemijn M. Kolff, Marie-Jeanne T.F.D. Vrancken Peeters, Martijn Kerst, Beatrijs A. Seinstra, Neeltje Steeghs, Winette T.A.
The Breast.2024; 78: 103825. CrossRef
Primary ovarian angiosarcoma: Two case reports and review of literature
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World Journal of Clinical Cases.2023; 11(21): 5122. CrossRef

Special AT-rich sequence-binding protein 2 (SATB2) in the differential diagnosis of osteogenic and non-osteogenic bone and soft tissue tumors: Sharon Milton, Anne Jennifer Prabhu, V. T. K. Titus, Rikki John, Selvamani Backianathan, Vrisha Madhuri; J Pathol Transl Med. 2022;56(5):270-280. Published online September 13, 2022; DOI: https://doi.org/10.4132/jptm.2022.07.11

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Abstract PDF

Background
The diagnosis of osteosarcoma (OSA) depends on clinicopathological and radiological correlation. A biopsy is considered the gold standard for OSA diagnosis. However, since OSA is a great histological mimicker, diagnostic challenges exist. Immunohistochemistry (IHC) can serve as an adjunct for the histological diagnosis of OSA. Special AT-rich sequence-binding protein 2 (SATB2) was recently described as a reliable adjunct immunohistochemical marker for the diagnosis of OSA.
Methods
We investigated the IHC expression of SATB2 in 95 OSA and 100 non-osteogenic bone and soft tissue tumors using a monoclonal antibody (clone EPNCIR30A). The diagnostic utility of SATB2 and correlation with clinicopathological parameters were analyzed.
Results
SATB2 IHC was positive in 88 out of 95 cases (92.6%) of OSA and 50 out of 100 cases (50.0%) of primary non-osteogenic bone and soft tissue tumors. Of the 59 bone tumors, 37 cases (62.7%) were positive for SATB2, and of the 41 soft tissue tumors, 13 cases (31.7%) were positive for SATB2. The sensitivity of SATB2 as a diagnostic test was 92.6%, specificity 50%, positive predictive value 63.8%, and negative predictive value 87.7%.
Conclusions
Although SATB2 is a useful diagnostic marker for OSA, other clinical, histological and immunohistochemical features should be considered for the interpretation of SATB2.

Citations

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Favorable treatment response to high‐grade sarcoma in neurofibromatosis 1
Michelle H. Talukder, Mauli M. Patel, Tala Al‐Saghir, Ghadir K. Katato, Janet Poulik, William J. Powell, Alysia K. Kemp, Steven Miller, Danielle Bell, Jeffrey W. Taub
Pediatric Blood & Cancer.2023;[Epub] CrossRef

Case Studies

Primary pulmonary epithelioid inflammatory myofibroblastic sarcoma: a rare entity and a literature review: Priyanka Singh, Aruna Nambirajan, Manish Kumar Gaur, Rahul Raj, Sunil Kumar, Prabhat Singh Malik, Deepali Jain; J Pathol Transl Med. 2022;56(4):231-237. Published online July 7, 2022; DOI: https://doi.org/10.4132/jptm.2022.05.08

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Abstract PDF

Epithelioid inflammatory myofibroblastic sarcoma (EIMS) is an aggressive subtype of inflammatory myofibroblastic tumor (IMT) harboring anaplastic lymphoma kinase (ALK) gene fusions and is associated with high risk of local recurrence and poor prognosis. Herein, we present a young, non-smoking male who presented with complaints of cough and dyspnoea and was found to harbor a large right lower lobe lung mass. Biopsy showed a high-grade epithelioid to rhabdoid tumor with ALK and desmin protein expression. The patient initially received 5 cycles of crizotinib and remained stable for 1 year; however, he then developed multiple bony metastases, for which complete surgical resection was performed. Histopathology confirmed the diagnosis of EIMS, with ALK gene rearrangement demonstrated by fluorescence in situ hybridization. Postoperatively, the patient is asymptomatic with stable metastatic disease on crizotinib and has been started on palliative radiotherapy. EIMS is a very rare subtype of IMT that needs to be included in the differential diagnosis of ALKexpressing lung malignancies in young adults.

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Mediastinal epithelioid inflammatory myofibroblastic sarcoma with the EML4‐ALK fusion: A case report and literature review
Tingyu Pan, Xinyu Sun, Xiao Wu, Futing Tang, Xianmei Zhou, Qian Wang, Shi Chen
Respirology Case Reports.2024;[Epub] CrossRef
Primary epithelioid inflammatory myofibroblastic sarcoma of the brain with EML4::ALK fusion mimicking intra-axial glioma: a case report and brief literature review
Eric Eunshik Kim, Chul-Kee Park, Koung Mi Kang, Yoonjin Kwak, Sung-Hye Park, Jae-Kyung Won
Journal of Pathology and Translational Medicine.2024; 58(3): 141. CrossRef
Epithelioid Inflammatory Myofibroblastic Sarcoma: A Report of a Rare Case
Varun Ronanki, Vaddatti Tejeswini, Inuganti Venkata Renuka, Shaik Raheema, Bakkamanthala S K Kanth
Cureus.2024;[Epub] CrossRef
Thoracic epithelioid inflammatory myofibroblastic sarcoma: a rare and aggressive disease with case report and literature review
Linke Yang, Pei Li, Runze Liu, Baomin Feng, Huiqing Mao, Xiaoyong Tang, Guangjian Yang
Discover Oncology.2024;[Epub] CrossRef
Case report: Epithelioid inflammatory myofibroblastic sarcoma treated with an ALK TKI ensartinib
Mengmeng Li, Ruyue Xing, Jiuyan Huang, Chao Shi, Chunhua Wei, Huijuan Wang
Frontiers in Oncology.2023;[Epub] CrossRef
Epithelioid Inflammatory Myofibroblastic Sarcoma With Poor Response to Crizotinib: A Case Report
Soheila Aminimoghaddam, Roghayeh Pourali
Clinical Medicine Insights: Case Reports.2023;[Epub] CrossRef
Epithelioid inflammatory myofibroblastic sarcoma: a case report and brief literature review
Weidong Dou, Yu Guan, Tao Liu, Hang Zheng, Shuo Feng, Yingchao Wu, Xin Wang, Zhanbing Liu
Frontiers in Oncology.2023;[Epub] CrossRef

Metastatic leiomyosarcoma of the thyroid gland: cytologic findings and differential diagnosis: Jiyeon Lee, Yunjoo Cho, Kyue Hee Choi, Inwoo Hwang, Young Lyun Oh; J Pathol Transl Med. 2021;55(5):360-365. Published online August 13, 2021; DOI: https://doi.org/10.4132/jptm.2021.06.23

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Abstract PDF

Metastatic leiomyosarcoma to the thyroid is an extremely rare occurrence, and only 18 cases have been reported. Here, we report a case of a 37-year-old woman who presented with multiple masses on the scalp. Excisional biopsy was done and the mass revealed fascicles of smooth muscle fibers which showed positive staining for smooth muscle actin, thus confirming the diagnosis of leiomyosarcoma. The patient was also found to have a 0.9 cm mass within the left thyroid. Fine-needle aspiration was done and the cytological smear showed hypercellular spindle cell clusters with hyperchromatic and large nuclei. Normal thyroid follicular cells were found within or around tumor cells. In this report, we present the cytologic findings of metastatic leiomyosarcoma to the thyroid and offer differential diagnoses of the aspirated spindle cells.

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A Rare Case of Metastatic Uterine Leiomyosarcoma to the Thyroid Gland
R. Sathish Kumar, H. Akshaykumar, C. Ramesan, J. Dipin
Indian Journal of Otolaryngology and Head & Neck Surgery.2024; 76(1): 1365. CrossRef
Cytological Features and Mimickers of Thyroid Gland Sarcomas: A Case-Based Study
Poorvi Mathur, Shipra Agarwal, Chanchal Rana
International Journal of Surgical Pathology.2024;[Epub] CrossRef
Neck Surgery for Non-Well Differentiated Thyroid Malignancies: Variations in Strategy According to Histopathology
Fernando López, Abir Al Ghuzlan, Mark Zafereo, Vincent Vander Poorten, K. Thomas Robbins, Marc Hamoir, Iain J. Nixon, Ralph P. Tufano, Gregory Randolph, Pia Pace-Asciak, Peter Angelos, Andrés Coca-Pelaz, Avi Khafif, Ohad Ronen, Juan Pablo Rodrigo, Álvaro
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Mesonephric-like Adenocarcinoma of the Ovary: Clinicopathological and Molecular Characteristics
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Rosette-forming epithelioid osteosarcoma in the rib: a rare case of location and morphology: Sun-Ju Oh; J Pathol Transl Med. 2021;55(6):406-409. Published online August 3, 2021; DOI: https://doi.org/10.4132/jptm.2021.06.22

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Abstract PDF: The rib is an unusual location for osteosarcoma and is reported in only 2% of all cases. The major histological variants of osteosarcoma are osteoblastic, chondroblastic, and fibroblastic, with a few rare variants including one epithelioid type. This report describes a 44-year-old male with an osteolytic mass in the right seventh rib. Histological examination revealed osteosarcoma with unique features of epithelioid appearance and rosette structures. To the best of our knowledge, this is the first reported case of a rosette-forming osteosarcoma of the rib that showed epithelioid morphology. Despite successful surgery, the patient’s prognosis was poor because this malignancy had an unusual location within the axial skeleton and was a rare histological variant.

Sarcomatoid urothelial carcinoma arising in the female urethral diverticulum: Heae Surng Park; J Pathol Transl Med. 2021;55(4):298-302. Published online June 1, 2021; DOI: https://doi.org/10.4132/jptm.2021.04.23

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Abstract PDF

A sarcomatoid variant of urothelial carcinoma in the female urethral diverticulum has not been reported previously. A 66-year-old woman suffering from dysuria presented with a huge urethral mass invading the urinary bladder and vagina. Histopathological examination of the resected specimen revealed predominantly undifferentiated pleomorphic sarcoma with sclerosis. Only a small portion of conventional urothelial carcinoma was identified around the urethral diverticulum, which contained glandular epithelium and villous adenoma. The patient showed rapid systemic recurrence and resistance to immune checkpoint inhibitor therapy despite high expression of programmed cell death ligand-1. We report the first case of urethral diverticular carcinoma with sarcomatoid features.

Citations

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Reprint of: Female Urethral Carcinoma: A contemporary review of the clinicopathologic features, with emphasis on the histo-anatomic landmarks and potential staging issues
Maria Sarah Lagarde-Lenon, Manju Aron
Human Pathology.2023; 133: 126. CrossRef
Female Urethral Diverticula: a Contemporary Narrative Review of Aetiology, Diagnosis, and Treatment
A. U. Nic an Ríogh, S. Monagas Arteaga, L. Tzelves, M. Karavitakis, A. K. Nambiar
Current Bladder Dysfunction Reports.2022; 17(4): 250. CrossRef
Female urethral carcinoma: a contemporary review of the clinicopathologic features, with emphasis on the histoanatomic landmarks and potential staging issues
Maria Sarah Lagarde-Lenon, Manju Aron
Human Pathology.2022; 129: 71. CrossRef

Original Articles

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
Suizo.2024; 39(5): 334. CrossRef
Metástasis pancreática de sarcoma, un hallazgo infrecuente
Daniel Aparicio-López, Jorge Chóliz-Ezquerro, Carlos Hörndler-Algárate, Mario Serradilla-Martín
Gastroenterología y Hepatología.2023; 46(5): 376. CrossRef
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
Pablo Salmón Olavarría, Ana Gordo Ortega, Maren Eizagirre Ubegun, Verónica Ubieto Capella, Elena Carracedo Vega, Juan Carrascosa Gil, David Ruiz-Clavijo García
Revista Española de Enfermedades Digestivas.2023;[Epub] CrossRef
First Recurrence of Synovial Sarcoma Presenting With Solitary Pancreatic Mass
Raja R Narayan, Greg W Charville, Daniel Delitto, Kristen N Ganjoo
Cureus.2022;[Epub] CrossRef
Intravenous Leiomyosarcoma of the Lower Extremity: As Peripheral as It Gets
Levent F Umur, Selami Cakmak, Mehmet Isyar, Hamdi Tokoz
Cureus.2021;[Epub] CrossRef
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
Panagiotis Dorovinis, Nikolaos Machairas, Stylianos Kykalos, Paraskevas Stamopoulos, George Agrogiannis, Nikolaos Nikiteas, Georgios C. Sotiropoulos
Journal of Gastrointestinal Cancer.2021; 52(3): 1151. CrossRef

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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Differential diagnosis of primary mesenchymal neoplasms of the breast
Mine Ozsen, Seyit Ali Volkan Polatkan, Ulviye Yalcınkaya, Sahsine Tolunay, Mustafa Sehsuvar Gokgoz
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Dana Schwartz, Elisabeth T. Tracy, Bindi Naik-Mathuria, Richard D. Glick, Stephanie F. Polites, Peter Mattei, David Rodeberg, Andres F. Espinoza, Sara A. Mansfield, Dave R. Lal, Meera Kotagal, Timothy Lautz, Jennifer Aldrink, Barrie S. Rich
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High-Grade Spindle Cell Lesions of the Breast
Esther Yoon, Qingqing Ding, Kelly Hunt, Aysegul Sahin
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Kemal Behzatoğlu, Fernando Schmitt
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Recurrent malignant phyllodes tumor of the breast: An extremely rare case of recurrence with only rhabdomyosarcoma components
Jia Han, Shuice Liu, Akihoro Shioya, Motona Kumagai, Emi Morioka, Miki Noguchi, Masafumi Inokuchi, Sohsuke Yamada
SAGE Open Medical Case Reports.2022;[Epub] CrossRef
Primary rhabdomyosarcoma: An extremely rare and aggressive variant of male breast cancer
Cătălin Bogdan Satală, Ioan Jung, Tivadar Jr Bara, Patricia Simu, Iunius Simu, Madalina Vlad, Rita Szodorai, Simona Gurzu
World Journal of Clinical Cases.2020; 8(19): 4466. CrossRef

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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Citations

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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

Endobronchial Smooth Muscle Tumors: A Series of Five Cases Highlighting Pitfalls in Diagnosis: Tripti Nakra, Aanchal Kakkar, Shipra Agarwal, Karan Madan, Suresh C Sharma, Deepali Jain; J Pathol Transl Med. 2018;52(4):219-225. Published online July 11, 2018; DOI: https://doi.org/10.4132/jptm.2018.05.16

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Abstract PDF

Background
Primary endobronchial smooth muscle tumors (SMTs), which are extremely rare, include endobronchial leiomyomas and leiomyosarcomas. Clinically, SMTs present with signs and symptoms of bronchial obstruction, and lack specific radiological findings. Thus, histopathological examination is required for accurate diagnosis as well as for tumor grading. We examined the histomorphological and immunohistochemical features of endobronchial SMTs and highlighted pitfalls in diagnosis, particularly when using small biopsies.
Methods
Cases of primary endobronchial SMTs diagnosed at our Institute over the last 6 years (2012–2017) were retrieved from the departmental archives. Histopathological features and immunohistochemistry performed for establishing the diagnosis were reviewed.
Results
Five cases of SMTs occurring in endobronchial locations were identified. These included three cases of leiomyoma, and two cases of leiomyosarcoma. The age distribution of patients ranged from 13 to 65 years. Leiomyomas showed more consistent staining with smooth muscle markers (smooth muscle actin, desmin, and smooth muscle myosin heavy chain), while tumors of higher grade showed variable, focal staining, leading to erroneous diagnosis, especially on small biopsies.
Conclusions
The diagnosis of endobronchial SMTs relies on histopathological examination, for both confirmation of smooth muscle lineage and determination of the malignant potential of the lesion. Appropriate immunohistochemical panels including more than one marker of smooth muscle differentiation are extremely valuable for differential diagnosis from morphological mimics, which is necessary for instituting appropriate management.

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Case report: Successful bronchoscopic interventional treatment of endobronchial leiomyomas
Yinfeng Wang, Yixiang Zhang, Ruirui Tong
Open Life Sciences.2024;[Epub] CrossRef
Pediatric endobronchial tumors with a mimicker: A case series
Kulwiwat Promsawasdi, Teerasak Phewplung
Pediatric Pulmonology.2024; 59(10): 2669. CrossRef
Smooth Muscle Conditions of the Chest
Matthew R. McCann, Lucas R. Massoth, Carlos A. Rojas, Yin P. Hung, John P. Lichtenberger, Gerald F. Abbott, Justin T. Stowell
Journal of Thoracic Imaging.2021; 36(5): 263. CrossRef
A Well-Defined Endobronchial Tumor in a 26-Year-Old Man
Christina Triantafyllidou, Petros Effraimidis, Mirjam Schimanke, Simone Ignatova, Anders Ringman, Susann Skoog, Farkas Vánky, Miklós Boros, Karin Cederquist
Chest.2021; 159(5): e313. CrossRef
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Journal of Bronchology & Interventional Pulmonology.2020; 27(4): e54. CrossRef

Case Study

Cytologic Diagnosis of Metastatic Alveolar Rhabdomyosarcoma in Cerebrospinal Fluid: A Case Report: Bobae Shim, Jiwon Koh, Ji Hye Moon, In Ae Park, Han Suk Ryu; J Pathol Transl Med. 2018;52(4):262-266. Published online June 14, 2018; DOI: https://doi.org/10.4132/jptm.2018.05.15

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Abstract PDF

Rhabdomyosarcoma is a malignant soft tissue tumor which shows skeletal muscle differentiation. Leptomeningeal metastasis can occur as a late complication, but currently there are no reports that have documented the cytologic features in cerebrospinal fluid (CSF). We report a case of metastatic alveolar rhabdomyosarcoma diagnosed in the CSF of a 28-year-old male who was originally diagnosed with rhabdomyosarcoma on the neck, and that went through systemic therapy. The tumor was positive for anaplastic lymphoma kinase, but progressed despite additional therapy with crizotinib. The CSF specimen revealed small round cells, large atypical cells with abundant cytoplasm and eccentric nuclei, and cells with horseshoe-shaped nuclei. These cytologic findings were in agreement with previous literature and well-correlated with histopathology. This is the first report to document the cytologic feature of rhabdomyosarcoma in CSF. In many cases it is difficult to perform ancillary tests in a CSF specimen and cytopathologists should be aware of the cytomorphologic characteristics to avoid misdiagnosis.

Citations

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A Review of Effusion Cytomorphology of Small Round Cell Tumors
Lucy M. Han, Christopher J. VandenBussche, Mads Abildtrup, Ashish Chandra, Poonam Vohra
Acta Cytologica.2022; 66(4): 336. CrossRef
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Muxia Yan, Ying Wu, Jianqing Xia, Xiaohong Zhang, Yiqian Wang
Diagnostic Cytopathology.2021;[Epub] CrossRef
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Diagnostic Cytopathology.2019; 47(10): 1042. CrossRef

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