Primary Rhabdomyosarcoma of the Breast: Study of Three Cases at One Institution with a Review of Primary Breast Sarcomas

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 20...

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Main Authors: Junyoung Shin, Hee Jeong Kim, Dae-Yeon Kim, Gyungyub Gong, Kyung-Ja Cho
Format: Article
Language:English
Published: Korean Society of Pathologists & the Korean Society for Cytopathology 2019-09-01
Series:Journal of Pathology and Translational Medicine
Subjects:
Online Access:http://www.jpatholtm.org/upload/pdf/jptm-2019-07-22.pdf
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spelling doaj-37f26221dcdb406fa996de34a9e4a5f52020-11-24T20:53:19ZengKorean Society of Pathologists & the Korean Society for CytopathologyJournal of Pathology and Translational Medicine2383-78372383-78452019-09-0153530831610.4132/jptm.2019.07.2216855Primary Rhabdomyosarcoma of the Breast: Study of Three Cases at One Institution with a Review of Primary Breast SarcomasJunyoung Shin0Hee Jeong Kim1Dae-Yeon Kim2Gyungyub Gong3Kyung-Ja Cho4 Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea Department of Pediatric Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, KoreaBackground 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.http://www.jpatholtm.org/upload/pdf/jptm-2019-07-22.pdfSpindle cell rhabdomyosarcomaSclerosing rhabdomyosarcomaPrimary sarcoma of the breast
collection DOAJ
language English
format Article
sources DOAJ
author Junyoung Shin
Hee Jeong Kim
Dae-Yeon Kim
Gyungyub Gong
Kyung-Ja Cho
spellingShingle Junyoung Shin
Hee Jeong Kim
Dae-Yeon Kim
Gyungyub Gong
Kyung-Ja Cho
Primary Rhabdomyosarcoma of the Breast: Study of Three Cases at One Institution with a Review of Primary Breast Sarcomas
Journal of Pathology and Translational Medicine
Spindle cell rhabdomyosarcoma
Sclerosing rhabdomyosarcoma
Primary sarcoma of the breast
author_facet Junyoung Shin
Hee Jeong Kim
Dae-Yeon Kim
Gyungyub Gong
Kyung-Ja Cho
author_sort Junyoung Shin
title Primary Rhabdomyosarcoma of the Breast: Study of Three Cases at One Institution with a Review of Primary Breast Sarcomas
title_short Primary Rhabdomyosarcoma of the Breast: Study of Three Cases at One Institution with a Review of Primary Breast Sarcomas
title_full Primary Rhabdomyosarcoma of the Breast: Study of Three Cases at One Institution with a Review of Primary Breast Sarcomas
title_fullStr Primary Rhabdomyosarcoma of the Breast: Study of Three Cases at One Institution with a Review of Primary Breast Sarcomas
title_full_unstemmed Primary Rhabdomyosarcoma of the Breast: Study of Three Cases at One Institution with a Review of Primary Breast Sarcomas
title_sort primary rhabdomyosarcoma of the breast: study of three cases at one institution with a review of primary breast sarcomas
publisher Korean Society of Pathologists & the Korean Society for Cytopathology
series Journal of Pathology and Translational Medicine
issn 2383-7837
2383-7845
publishDate 2019-09-01
description 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.
topic Spindle cell rhabdomyosarcoma
Sclerosing rhabdomyosarcoma
Primary sarcoma of the breast
url http://www.jpatholtm.org/upload/pdf/jptm-2019-07-22.pdf
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