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

937 View
173 Download

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 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

5,279 View
132 Download
5 Web of Science
7 Crossref

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

Citations to this article as recorded by

Differential diagnosis of primary mesenchymal neoplasms of the breast
Mine Ozsen, Seyit Ali Volkan Polatkan, Ulviye Yalcınkaya, Sahsine Tolunay, Mustafa Sehsuvar Gokgoz
Clinical and Translational Oncology.2024;[Epub] CrossRef
Management of Pediatric Breast Masses for the Pediatric Surgeon: Expert Consensus Recommendations From the APSA Cancer Committee
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
Journal of Pediatric Surgery.2024; : 161916. CrossRef
Primary breast rhabdomyosarcoma in a 17-year-old girl
Laxmi Singotia, V.S. Haritha
Journal of Cancer Research and Therapeutics.2023; 19(7): 2070. CrossRef
High-Grade Spindle Cell Lesions of the Breast
Esther Yoon, Qingqing Ding, Kelly Hunt, Aysegul Sahin
Surgical Pathology Clinics.2022; 15(1): 77. CrossRef
Primary Small Cell Malignancies of the Breast: Are They Rare Malignancies?
Kemal Behzatoğlu, Fernando Schmitt
Acta Cytologica.2022; 66(4): 347. CrossRef
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 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

3,262 View
62 Download
1 Crossref

Citations

Citations to this article as recorded by

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

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

6,101 View
118 Download
3 Web of Science
3 Crossref

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

Citations to this article as recorded by

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
Cytologic diagnosis of metastatic embryonal rhabdomyosarcoma in cerebrospinal fluid: A case report
Muxia Yan, Ying Wu, Jianqing Xia, Xiaohong Zhang, Yiqian Wang
Diagnostic Cytopathology.2021;[Epub] CrossRef
Effusion cytology of epithelioid rhabdomyosarcoma
Andrew A. Renshaw, Edwin W. Gould
Diagnostic Cytopathology.2019; 47(10): 1042. CrossRef

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

7,608 View
114 Download
4 Web of Science
4 Crossref

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.

Citations

Citations to this article as recorded by

A Rare Case of Malignant Solitary Fibrous Tumor on the Scalp
Kwang-Ryeol Kim, Ki Hong Kim
Keimyung Medical Journal.2023; 42(2): 107. CrossRef
Malignant solitary fibrous tumor of maxilla presenting as proptosis: A case report
Pravin Kumar, Arpita Jindal, Bhushan Bhalgat, Phanindra Kumar Swain, Raj Govind Sharma
Journal of Cancer Research and Therapeutics.2023; 19(Suppl 2): S991. CrossRef
Recurrent malignant solitary fibrous tumor of the scalp: a case report and literature review
Ahmed Rabie, Abdulkarim Hasan, Yasein Mohammed, Ayman Abdelmaksoud, Ali A. Rabaan
Journal of Pathology and Translational Medicine.2022; 56(2): 103. CrossRef
Frozen Cytology of Meningeal Malignant Solitary Fibrous Tumor/Hemangiopericytoma
Myunghee Kang, Na Rae Kim, Dong Hae Chung, Gie-Taek Yie
Journal of Pathology and Translational Medicine.2019; 53(3): 192. 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

8,125 View
57 Download
10 Crossref

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.

Citations

Citations to this article as recorded by

A rare adult case of primary uterine rhabdomyosarcoma with mixed pattern: a clinicopathological & immunohistochemical study with literature review
Nehal K.H. Kamel, Eiman Adel Hasby
Diagnostic Pathology.2024;[Epub] CrossRef
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
Expert Review of Anticancer Therapy.2016; 16(11): 1155. CrossRef
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
International Journal of Oncology.2016; 48(5): 1815. CrossRef
Primary third ventricular tumor in an 18‐year‐old man
Tianping Yu, Mengni Zhang, Qiao Zhou, Jing Gong, Ling Nie, Xueqin Chen, Ni Chen
Neuropathology.2015; 35(6): 599. CrossRef
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

Malignant Mixed Mullerian Tumor Arising from Adenomyosis of Uterus.: Yoon Ju Kim, Jung Il Suh; Korean J Pathol. 1998;32(12):1098-1100.

1,668 View
10 Download

Abstract: Malignant mixed mullerian tumor (MMMT) is an unusual tumor composed of malignant epithelial and nonepithelial components in the same lesion and is subdivided into homologous and heterologous types. Epidemiologically, these tumors are associated with prior pelvic irradiation, functioning ovarian lesions, exogenous estrogen therapy and rarely endometriosis. We experienced a case of uterine MMMT which arose from adenomyosis in a 47-year-old woman who had no specific past medical history. The posterior uterine corpus showed a 3.5x3.0x2.0 cm sized, relatively well defined tumor mass within the background of the adenomyosis. The tumor was composed of well differentiated endometrial adenocarcinoma and sarcomatous stroma with foci of rhabdomyosarcomatous differentiation confirmed by immunohistochemical and electron microscopic studies. Through the immunohistochemical study, both the epithelial and nonepithelial components were positive for cytokeratin and it suggested that the sarcomatous area originated from metaplasia of the adenocarcinoma component. From the overall findings, it is regarded as an uterine heterologous MMMT which arose from adenomyosis.

Embryonal Rhabdomyosarcoma of Urinary Bladder Diagnosed by Urine Cytology: A Case Report.: Joo Heon Kim, Ho Lee, Myoung Jae Kang, Dong Geun Lee, Sang Ho Kim; Korean J Cytopathol. 1994;5(1):71-73.

1,598 View
29 Download

Abstract PDF: Rhabdomyosarcomas are found mainly in young patients, but rare in adults. A correlated cytological and histologic study of one case of embryonal rhabdomyosarcoma is presented. The cytologic appearance of the urine smear corresponded well with the histologic findings. Cytologically, two main cell types were distinguished; a predominant primitive, small round cell with scant cytoplasm and a large cell with abundant cytoplasm. The cytologic feature proving rhabdomyoblastic differenti-ation, such as cross-striation, was absent.

Fine Needle Aspiration Cytology of Metastatic Alveolar Rhabdomyosarcoma Misinterpreted as Carcinoma: A Case Report.: Hyun Jung Kim, Sung Jik Lim, Kyeongmee Park; Korean J Cytopathol. 2005;16(1):52-56.

1,685 View
31 Download

Abstract PDF: Fine-needle aspiration cytology(FNAC) has been used extensively in the diagnosis of metastatic malignancies. However, metastatic soft tissue sarcomas are often overlooked, primarily due to the low frequency with which they occur. Here, we report a rare case of metastatic rhabdomyosarcoma in both cervical lymph nodes, which was detected by FNAC. A 45-year-old woman presented with anosmia, postnasal drip, and sneezing, symptoms which had persisted for 1 month. The patient was found to have a tumorous lesion at the upper portion of the mid-turbinate, with multiple enlarged cervical lymph nodes, and this lesion was examined closely at our facility. FNA cytology smears obtained from both cervical lymph nodes revealed a high degree of cellularity, and displayed cohesive clusters with gland-like spaces, as well as single isolated cells with abundant karyorrhectic debris. The tumor cells exhibited round to oval nuclei containing fine chromatin, occasional small nucleoli, and scanty cytoplasm, or a total lack of cytoplasm. Some of the tumor cells were arranged in multinucleated forms and abundant dense eosinophilic cytoplasms, reminiscent of a rhabdomyoblast. The histological findings of the lymph nodes revealed an outstanding sinusoidal infiltration and a prominent alveolar growth pattern, interspersed with occasional typical rhabdomyoblasts. The immunohistochemical results [desmin(+), myoglobin(+), myogenin (+), pan CK(-), synaptophysin(-), neuron specific enolase(-)] supported a confirmative diagnosis of alveolar rhabdomyosarcoma. Alveolar rhabdomyosarcoma is a representative sarcoma, which typically manifests with nodal metastasis and carcinoma-like clustering. The cytopathologist should remain alert upon encountering unusual morphology, so that the possibility of this condition, although somewhat remote, should not be dismissed or overlooked.

Original Article

Rhabdomyosarcoma in Children: Histologic Subtypes and Prognosis.: Woo Hee Jung, Yee Jeong Kim, Soon Hee Jung, Hyunee Yim, Cheol Joo Yoo; Korean J Pathol. 1992;26(6):573-581.

1,611 View
16 Download

Abstract PDF: Thirty cases of rhabdomyosarcoma in patients under the age of 15 years were reviewed retrospectively to find out characteristics of histologic subtypes related to prognosis. Histologic diagnosis were embryonal in 21(70%), alveolar in 7(23%) and mixed type in 2(7%). Cellular anaplasia was noted in 6 cases. Round to polygonal cells with abundant eosinophilic cytoplasmic rim or globules were most characteristic cytologic feature or rhabdomyosarcomas, being followed by myofibrils. Myxoid and edematous stroma in embryonal type and alveolar pattern in alveolar type wee nost characteristic growth pattern. Immunohistochemically, tumors were positive for desmin, actin and myoglobin in 97%, 27%, and 40%, respectively. Consequently, characteristic cytologic features are important to differentiate rhabdomyosarcomas form other kinds of small round cell tumor and growth pattern is more critical in categorizing histologic subtypes. Desmin is far more useful than actin or myoglobin in the diagnosis of rhabdomyosarcoma.

Case Reports

Rhabdomyosarcoma of the Prostate: Two cases report.: Kyoung Mee Kim, Ki Hwa Yang, Seok Jin Kang, Byoung Kee Kim, Sun Moo Kim; Korean J Pathol. 1992;26(4):394-398.

1,568 View
16 Download

Abstract PDF: The rhabdomyosarcoma of the prostate is very rarely encountered in the western literature, and only a few reports have been published in Korea. The authours recently experienced two cases of rhabdomyosarcomas of the prostate in 35-year-old and 51-year-old males who had suffered from gross hematuria and difficulty of urination. Microscopic studies showed embryonal type of rhabdomyosarcoma in two cases. The clinical and pathological features of the distinctive prostatic rhabdomyosarcoma are described, and a brief review of the literature is made.

Renal Cell Carcinoma Associated with Rhabdomyosarcomatous Component: Report of a case.: Mee Soo Chang, Mi Kyung Jee, Kyo Young Lee, Sang In Shim, Sun Moo Kim; Korean J Pathol. 1987;21(1):40-44.

1,591 View
13 Download

Abstract PDF: Renal cell carcinoma, intimately associated with a sarcomatous component, is a rare malignant renal tumor. There is disagreement whether these represent true sarcomas or are sarcomatoid metaplasia. Therefore, this sarcomatous component is at times still a troublesome problem for pathologists. In March, 1986, we experienced a case of renal cell carcinoma associated with rhabdomyosarcomatous component in 47 year-old woman who had a rapidly enlarged, palpable abdominal mass. Grossly, a spherical renal cell carcinoma, 17x14x10 cm, in upper and middle portions of the right kidney showed extension through the renal capsule into the perirenal fat. Area of myxoid change was evident in the reanl cell carcinoma, with extensive hemorrhagic necrosis. Microscopically, in the myxoid area, there was malignant spindle cell proliferation in which many rhabdomyoblasts showing distinct cross striation could be demonstrated. This rhabdomyosarcomatous component intermixed with renal cell carcinoma of clear cell type could be also identified in the focal area.

First
Prev
Page of 1
Next
Last

Search