Journal of Pathology and Translational Medicine

Original Article

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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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.

Citations

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Primary breast rhabdomyosarcoma in a 17-year-old girl
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Journal of Cancer Research and Therapeutics.2023; 19(7): 2070. CrossRef
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Recurrent malignant phyllodes tumor of the breast: An extremely rare case of recurrence with only rhabdomyosarcoma components
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Case Studies

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

Spindle Cell Rhabdomyosacoma of Uterus: A Case Study: Dae Woon Kim, Jung Hwan Shin, Ho Jung Lee, Young Ok Hong, Jong Eun Joo, Eun Kyung Kim; Korean J Pathol. 2013;47(4):388-391. Published online August 26, 2013; DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.4.388

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Abstract PDF

Uterine rhabdomyosarcoma (RMS) typically presents as a mixed epithelial and mesenchymal tumors. Pure RMSs of the female genital tract are uncommon. Spindle cell variant of RMS is a rare morphologic subtype of embryonal RMS and mostly occurs in the paratesticular region of children. Here, we present a case of uterine spindle cell RMS in a 76-year-old woman. The tumor, 20×15×7 cm in size, was highly necrotic and adherent to the colon and rectum. Tumor cells were mostly spindle-shaped, and isolated rhabdomyoblasts were scattered. Immunohistochemical stains for myoglobin and myo-D1 showed diffuse positivity for tumor cells. The patient died only of disease three months after diagnosis.

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Embryonal rhabdomyosarcoma of the uterine corpus: a clinicopathological and molecular analysis of 21 cases highlighting a frequent association with DICER1 mutations
Jennifer A. Bennett, Zehra Ordulu, Robert H. Young, Andre Pinto, Koen Van de Vijver, Eike Burandt, Pankhuri Wanjari, Rajeev Shah, Leanne de Kock, William D. Foulkes, W. Glenn McCluggage, Lauren L. Ritterhouse, Esther Oliva
Modern Pathology.2021; 34(9): 1750. CrossRef
Vaginal embryonal rhabdomyosarcoma in young woman: A case report and literature review
Lalya Issam, Laatitioui Sana, Essadi Ismail, El Omrani Abdelhamid, Khouchani Mouna
Archives of Cancer Science and Therapy.2020; 4(1): 034. CrossRef
Is fertility-preservation safe for adult non-metastatic gynecologic rhabdomyosarcoma patients? Systematic review and pooled survival analysis of 137 patients
Maha AT Elsebaie, Zeinab Elsayed
Archives of Gynecology and Obstetrics.2018; 297(3): 559. CrossRef
Spindle cell sarcoma – a rare diagnosis
SK Kathpalia, Manju Mehrotra, Pinky Jena, Archana H Deshpande
Women's Health.2018;[Epub] CrossRef
Malignant mesenchymal tumors of the uterus – time to advocate a genetic classification
Birgit Rommel, Carsten Holzmann, Jörn Bullerdiek
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Human rhabdomyosarcoma cells express functional pituitary and gonadal sex hormone receptors: Therapeutic implications
AGATA PONIEWIERSKA-BARAN, GABRIELA SCHNEIDER, WENYUE SUN, AHMED ABDELBASET-ISMAIL, FREDERIC G. BARR, MARIUSZ Z. RATAJCZAK
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Tianping Yu, Mengni Zhang, Qiao Zhou, Jing Gong, Ling Nie, Xueqin Chen, Ni Chen
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Rhabdomyosarcoma of vulva in a young lady
Tapesh Bhattacharyya, Firuza D. Patel, Radhika Srinivasan, Bhavana Rai, Pradeep Saha, R. Nijhawan
Journal of Cancer Research and Therapeutics.2015; 11(3): 650. CrossRef
Uterine sarcoma in a 14year-old girl presenting with uterine rupture
Jane Özcan, Özlem Dülger, Latif Küpelioğlu, Ali İhsan Gönenç, Aynur Erşahin
Gynecologic Oncology Reports.2014; 10: 44. CrossRef

Case Reports

Primary Monophasic Synovial Sarcoma Arising in the Mesentery: Case Report of an Extremely Rare Mesenteric Sarcoma Confirmed by Molecular Detection of a SYT-SSX2 Fusion Transcript: Han Suk Ryu, Ilyeong Heo, Jae Soo Koh, Sung-Ho Jin, Hye Jin Kang, Soo Youn Cho; Korean J Pathol. 2012;46(2):187-191. Published online April 25, 2012; DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.2.187

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Abstract PDF

Synovial sarcoma arises in the para-articular tissues, and it can also occur in various unexpected sites. We report a rare case of primary monophasic synovial sarcoma (MSS) arising in the mesentery. A 59-year-old man presented with a palpable abdominal mass. On microscopic examination, the entire tumor comprised a dense proliferation of the spindle cells without epithelial components. The tumor cells were positive for transducin-like enhancer of split 1, bcl-2, epithelial membrane antigen and CD99 but negative for CD34, CD117, alpha-smooth muscle actin, cytokeratin, and calretinin on immunohistochemistry. The reverse transcriptase-polymerase chain reaction revealed a single 151-bp fragment representing the SYT-SSX2 fusion transcript. Because mesenteric MSS is extremely rare and many cases display histologic findings that overlap with those of more frequently involved tumors such as hemangiopericytoma and gastrointestinal stromal tumor, there is a chance of making an incorrect diagnosis that can result in an inappropriate treatment.

Citations

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A case of primary mesenteric synovial sarcoma: a challenging presentation
Nihed Abdessayed, Malek Barka, Samiha Mabrouk, Zeineb Nfikha, Zeineb Maatoug, Yosra Fejji, Mohamed Salah Jarrar, Sabri Youssef, Moncef Mokni
Surgical Case Reports.2023;[Epub] CrossRef
Giant solitary fibrous tumor of the pelvis: A case report and review of literature
Gerardo Palmieri, Carmine Grassi, Luigi Conti, Filippo Banchini, Maria Diletta Daccò, Gaetano M. Cattaneo, Patrizio Capelli
International Journal of Surgery Case Reports.2020; 77: S52. CrossRef
Tumeur neuroectodermique gastro-intestinale (GNET) : à propos d’un cas de tumeur du grêle avec métastases hépatiques
Thibault Kervarrec, Claire Lecointre, Rémy Kerdraon, Guido Bens, Arnaud Piquard, Patrick Michenet
Annales de Pathologie.2015; 35(6): 506. CrossRef

Spindle Cell Epithelioma, a So-called Benign Mixed Tumor of the Vagina: A Case Report.: Mee Hye Oh, Eun Ah Jung, Ji Hye Lee, Hyun Deuk Cho, Seung Ha Yang, Jeong Ja Kwak; Korean J Pathol. 2010;44(6):670-674.; DOI: https://doi.org/10.4132/KoreanJPathol.2010.44.6.670

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Abstract PDF: We report a case of spindle cell epithelioma, a so-called benign mixed tumor of the vagina. The patient was a 35-year-old nulliparous woman who presented with a polypoid mass in the posterior wall of the lower vagina just above the hymenal ring. The tumor was relatively well-defined with an expansile margin and composed of stromal-type spindle cells with a myxoid stroma arranged in short fascicles and an irregular cord-like or reticular pattern. A few glandular structures lined by cuboidal cells with squamous metaplasia were also noted. Cellular atypia was not conspicuous and mitosis was not found. We examined this tumor immunohistochemically to identify the histogenesis. The coexpression of epithelial and mesenchymal markers in stromal-type spindle cells suggested a multipotential cell origin for this tumor. The patient has been well with no signs of recurrence during the 12 months after surgery.

Well-Differentiated Thymic Carcinoma, Spindle Cell Type, Arising from Anterior Mediastinum: A case report.: Hun Kyung Lee, Yeong Jin Choi, Seok Jin Kang, Byung Kee Kim, Sun Moo Kim, Sang In Shim; Korean J Pathol. 1995;29(6):800-803.

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Abstract PDF: Well differentiated thymic carcinoma(WDTC) was recently separated from cortical thymoma. It is characterized by a predominance of epithelial cells with usually low mitotic rate, an epidermoid differentiation with slight to moderate cytologic atypia and lobular growth pattern. In recent reports, an uncommon spindle cell variant of WDTC, which is composed of spindle shaped epithelial cells, has been described. We investigated an unusual case of WDTC consisted of purely spindle shaped epithelial cells in a 66-year-old female. Radiologically, the well demarcated mass was located in the anterior mediastinum with focal invasion into the surrounding left upper lung. The tumor, 10 x 8 x 5 cm, was encapsulated with thin fibrous tissue and showed a pale yellow solid and lobulated cut surface. Microscopically, it consisted of solid sheets of purely spindle shaped epithelial cells with mild atypism, a low mitotic rate and focal epidennoid differentiation.

Original Article

Interdigitating Reticulum Cell Sarcoma of Lymph Node.: Sung Suk Paeng, Yoon Ju Kim, Seong Eun Yang, Duck Hwan Kim, Hee Jin Chang, Jung Il Suh, Chu Woo Kim; Korean J Pathol. 1996;30(7):635-642.

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Abstract PDF: We report a case of reticulum cell sarcoma in the right cervical lymph node of a 42-year-old male. It was a slowly growing, non-tender movable mass of 8 months duration. Microscopically, the lymph node was effaced by proliferating spindle cells arranged in broad sheets, bands, or fascicular patterns in paracortical area sparing of B-cell region. The tumor component was divided by fibrous band. The individual cells had oval to round or elongated nuclei, with inconspicuous nucleoli and moderate amounts of cytoplasms with indistinct cell borders. Pleomorphic large cells with binucleated, or multinucleated bizarre nuclei with prominent nucleoli, were partly admixed. In immunohistochemical stain, the tumor cell was strong positive for S-100 protein, HLA-DR, Mac387 and weakly positive for Leukocyte common antigen and equivocal for Vimentin. But it was negative for CD21, Ki-1, Desmin, Epithelial membrane antigen and Cytokeratin. These immunohistochemical findings suggested that the neoplastic cell was originated from the interdigitating reticulum cell of lymph node. The patient was treated by radiation therapy, and alive well at 37 months of follow-up.

Case Reports

Mucinous Tubular and Spindle Cell Carcinoma of Kidney Occurring in a Patient with Pulmonary Adenocarcinoma.: Seog Yun Park, Gyeong Hoon Kang, Jae Y Ro, Jennifer Black, Jinsoo Chung, Kang Hyun Lee, Eun Kyung Hong, Weon Seo Park; Korean J Pathol. 2008;42(1):54-59.

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Abstract PDF: Mucinous tubular and spindle cell carcinoma (MTSCC) is a rare type of kidney tumor that has only been recently described. Furthermore, a case of MTSCC associated with a simultaneous lung cancer in the same patient has never been reported in the literature. In this paper, we describe a kidney tumor that was detected during staging work-up in a 72-year-old lung cancer patient. The kidney tumor was removed and shown to exhibit histological and immunophenotypic features of MTSCC, completely distinct from the pulmonary adenocarcinoma. In addition, this case was unique because it was characterized by neuroendocrine differentiation as well as p53 and Ki-67 overexpression in tumor cells. Therefore, we report a case of MTSCC diagnosed in a patient with pulmonary adenocarcinoma and describe the detailed histologic and immunohistochemical features of MTSCC.

Cellular Blue Nevus: A case report.: Na Hye Myong, Je G Chi, Byung Kyu Cho, Kye Yong Song; Korean J Pathol. 1993;27(5):542-545.

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Abstract PDF: Cellular blue nevus is an benign variant of blue nevus group, characterized by cellular islands composed of closely aggregated spindle cells with little or no melanin. The other variants include atypical and malignant blue nevus which often had the difficulties in the differential diagnosis from the malignant melanoma. A 4-year-old boy presented with hemispheric scalp nodule, which has been slowly grown since birth, measuring 3.5x3x1.5 cm. The surface showed geographic black pigmentation without hairs, hemorrhage, and ulceration. The excised mass disclosed homogeneoulsy dark black, glistening, and muddy cut surface. Histological examination revealed exuberant melanocytic proliferation with both spindle and dendritic components. Heavily pigment ed spindle cells, melanophages, focal necrosis, and vacuolated epithelioid cells were unusually noted in our case and diagnosed as cellular blue nevus. Electron microscopy disclosed largely mature melanosomes in tumor cells and melanophages. During about 16 months since operation, he has been relatively well with no evidence of disease.

Spindle Cell Carcinoma in Larynx: A case showing bone formation.: Hye Kyung Ahn, Hye Rim Park, Young Euy Park; Korean J Pathol. 1993;27(3):293-295.

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Abstract PDF: Spindle cell carcinoma of the upper aerodigestive tract mucosa was usually presented as polypoid mass and shows squamous cell carcinoma or dysplasia in the surface and underlying spindle cell proliferation. The spindle cell area discloses a variable pattern of sarcoma including rare osteosarcoma of 0~20% incidence. The histogenetic origin of the spindle cell component is now considered a metaplasia of squamous cell carcinoma. We experienced a case of spindle cell carcinoma of larynx showing massive underlying bone formation with proliferation of osteoclast-like cells in 75 year-old man. The immunohistochemical study demonstrates positive reaction with cytokeratin in area of squamous cells and with vimentin in area of spindle cells and osteoclasts. There are very focal reactivity for high molecular weight cytokeratin in spindle cell area.

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