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1.
Journal of Pathology and Translational Medicine ; : 251-264, 2023.
Article in English | WPRIM | ID: wpr-1001503

ABSTRACT

Background@#The Korean Society for Cytopathology introduced a digital proficiency test (PT) in 2021. However, many doubtful opinions remain on whether digitally scanned images can satisfactorily present subtle differences in the nuclear features and chromatin patterns of cytological samples. @*Methods@#We prepared 30 whole-slide images (WSIs) from the conventional PT archive by a selection process for digital PT. Digital and conventional PT were performed in parallel for volunteer institutes, and the results were compared using feedback. To assess the quality of cytological assessment WSIs, 12 slides were collected and scanned using five different scanners, with four cytopathologists evaluating image quality through a questionnaire. @*Results@#Among the 215 institutes, 108 and 107 participated in glass and digital PT, respectively. No significant difference was noted in category C (major discordance), although the number of discordant cases was slightly higher in the digital PT group. Leica, 3DHistech Pannoramic 250 Flash, and Hamamatsu NanoZoomer 360 systems showed comparable results in terms of image quality, feature presentation, and error rates for most cytological samples. Overall satisfaction was observed with the general convenience and image quality of digital PT. @*Conclusions@#As three-dimensional clusters are common and nuclear/chromatin features are critical for cytological interpretation, careful selection of scanners and optimal conditions are mandatory for the successful establishment of digital quality assurance programs in cytology.

2.
Cancer Research and Treatment ; : 513-522, 2023.
Article in English | WPRIM | ID: wpr-976715

ABSTRACT

Purpose@#Assessing the metastasis status of the sentinel lymph nodes (SLNs) for hematoxylin and eosin–stained frozen tissue sections by pathologists is an essential but tedious and time-consuming task that contributes to accurate breast cancer staging. This study aimed to review a challenge competition (HeLP 2019) for the development of automated solutions for classifying the metastasis status of breast cancer patients. @*Materials and Methods@#A total of 524 digital slides were obtained from frozen SLN sections: 297 (56.7%) from Asan Medical Center (AMC) and 227 (43.4%) from Seoul National University Bundang Hospital (SNUBH), South Korea. The slides were divided into training, development, and validation sets, where the development set comprised slides from both institutions and training and validation set included slides from only AMC and SNUBH, respectively. The algorithms were assessed for area under the receiver operating characteristic curve (AUC) and measurement of the longest metastatic tumor diameter. The final total scores were calculated as the mean of the two metrics, and the three teams with AUC values greater than 0.500 were selected for review and analysis in this study. @*Results@#The top three teams showed AUC values of 0.891, 0.809, and 0.736 and major axis prediction scores of 0.525, 0.459, and 0.387 for the validation set. The major factor that lowered the diagnostic accuracy was micro-metastasis. @*Conclusion@#In this challenge competition, accurate deep learning algorithms were developed that can be helpful for making a diagnosis on intraoperative SLN biopsy. The clinical utility of this approach was evaluated by including an external validation set from SNUBH.

3.
Journal of the Korean Radiological Society ; : 1231-1245, 2021.
Article in English | WPRIM | ID: wpr-901400

ABSTRACT

Purpose@#To investigate the usefulness of imaging features for differentiating between small lobular carcinoma in situ (LCIS) and invasive lobular carcinoma (ILC). @*Materials and Methods@#It included 52 female with LCISs (median 45 years, range 32–67 years) and 180 female with ILCs (median 49 years, range 36–75 years), with the longest diameter of ≤ 2 cm, who were evaluated between January 2012 and December 2016. All the female underwent mammography and ultrasonography. Twenty female with LCIS and 150 female with ILC underwent MRI. The clinical and imaging features were compared, and multivariate analysis was performed to identify the independent predictors of LCIS. Female with LCIS were also subgrouped by lesion size and compared with the female with ILC. @*Results@#Multivariate analysis showed that younger age (odds ratio [OR] = 1.100), smaller lesion size (OR = 1.103), oval or round shape (OR = 4.098), parallel orientation (OR = 5.464), and isoechotexture (OR = 3.360) were significant independent factors predictive of LCIS. The area under the receiver operating characteristic curve for distinguishing LCIS from ILC was 0.904 (95% confidence interval, 0.857–0.951). Subgroup analysis showed that benign features were more prevalent in female with smaller LCISs (≤ 1 cm) than in those with ILC. @*Conclusion@#Small LCISs tend to demonstrate more benign features than small ILCs. Several imaging features are independently predictive of LCIS.

4.
Journal of Breast Cancer ; : 1-21, 2021.
Article in English | WPRIM | ID: wpr-898999

ABSTRACT

Given the recent advances in management and understanding of breast cancer, a standardized pathology report reflecting these changes is critical. To meet this need, the Breast Pathology Study Group of the Korean Society of Pathologists has developed a standardized pathology reporting format for breast cancer, consisting of ‘standard data elements,’ ‘conditional data elements,’ and a biomarker report form. The ‘standard data elements’ consist of the basic pathologic features used for prognostication, while other factors related to prognosis or diagnosis are described in the ‘conditional data elements.’ In addition to standard data elements, all recommended issues are also presented. We expect that this standardized pathology report for breast cancer will improve diagnostic concordance and communication between pathologists and clinicians, as well as between pathologists inter-institutionally.

5.
Journal of Breast Cancer ; : 359-366, 2021.
Article in English | WPRIM | ID: wpr-898989

ABSTRACT

Purpose@#The tumor-infiltrating lymphocytes (TILs) expression in breast cancer is a positive prognostic marker for certain breast cancer subtypes. We evaluated the efficacy of dual antihuman epidermal growth factor receptor 2 (HER2) blockade in HER2-positive breast cancer and hypothesized that high TILs tumors are associated with better outcomes. @*Methods@#A total of 176 patients who were treated with neoadjuvant docetaxel, carboplatin, trastuzumab, and pertuzumab (TCHP) between December 2015 and December 2018 were reviewed. They were grouped based on a cut-off value of the stromal TILs grade (≤ 20% TILs, > 20% TILs). @*Results@#In total, 107 patients (60.8%) achieved pathological complete response (pCR).Hormone receptor (HR)-negativity (p = 0.001) and a high TILs grade (p = 0.022) were independent predictors of pCR. Among the HR-negative patients, high TILs tumors were significantly associated with pCR (p = 0.035). @*Conclusion@#HR status and the TILs grade are significantly correlated with pCR in dual anti-HER2 neoadjuvant therapy. The evaluation of the TILs at baseline may be beneficial for predicting pCR in HER2-positive breast cancer.

6.
Journal of Breast Cancer ; : 164-174, 2021.
Article in English | WPRIM | ID: wpr-898981

ABSTRACT

Purpose@#In this trial, we investigated the efficacy and safety of adjuvant letrozole for hormone receptor (HR)-positive breast cancer. Here, we report the clinical outcome in postmenopausal women with HR-positive breast cancer treated with adjuvant letrozole according to estrogen receptor (ER) expression levels. @*Methods@#In this multi-institutional, open-label, observational study, postmenopausal patients with HR-positive breast cancer received adjuvant letrozole (2.5 mg/daily) for 5 years unless they experienced disease progression or unacceptable toxicity or withdrew their consent. The patients were stratified into the following 3 groups according to ER expression levels using a modified Allred score (AS): low, intermediate, and high (AS 3–4, 5–6, and 7–8, respectively). ER expression was centrally reviewed. The primary objective was the 5-year disease-free survival (DFS) rate. @*Results@#Between April 25, 2010, and February 5, 2014, 440 patients were enrolled. With a median follow-up of 62.0 months, the 5-year DFS rate in all patients was 94.2% (95% confidence interval [CI], 91.8–96.6). The 5-year DFS and recurrence-free survival (RFS) rates did not differ according to ER expression; the 5-year DFS rates were 94.3% and 94.1%in the low-to-intermediate and high expression groups, respectively (p = 0.6), and the corresponding 5-year RFS rates were 95.7% and 95.4%, respectively (p = 0.7). Furthermore, 25 patients discontinued letrozole because of drug toxicity. @*Conclusion@#Treatment with adjuvant letrozole showed very favorable treatment outcomes and good tolerability among Korean postmenopausal women with ER-positive breast cancer, independent of ER expression.

7.
Journal of the Korean Radiological Society ; : 1231-1245, 2021.
Article in English | WPRIM | ID: wpr-893696

ABSTRACT

Purpose@#To investigate the usefulness of imaging features for differentiating between small lobular carcinoma in situ (LCIS) and invasive lobular carcinoma (ILC). @*Materials and Methods@#It included 52 female with LCISs (median 45 years, range 32–67 years) and 180 female with ILCs (median 49 years, range 36–75 years), with the longest diameter of ≤ 2 cm, who were evaluated between January 2012 and December 2016. All the female underwent mammography and ultrasonography. Twenty female with LCIS and 150 female with ILC underwent MRI. The clinical and imaging features were compared, and multivariate analysis was performed to identify the independent predictors of LCIS. Female with LCIS were also subgrouped by lesion size and compared with the female with ILC. @*Results@#Multivariate analysis showed that younger age (odds ratio [OR] = 1.100), smaller lesion size (OR = 1.103), oval or round shape (OR = 4.098), parallel orientation (OR = 5.464), and isoechotexture (OR = 3.360) were significant independent factors predictive of LCIS. The area under the receiver operating characteristic curve for distinguishing LCIS from ILC was 0.904 (95% confidence interval, 0.857–0.951). Subgroup analysis showed that benign features were more prevalent in female with smaller LCISs (≤ 1 cm) than in those with ILC. @*Conclusion@#Small LCISs tend to demonstrate more benign features than small ILCs. Several imaging features are independently predictive of LCIS.

8.
Journal of Breast Cancer ; : 1-21, 2021.
Article in English | WPRIM | ID: wpr-891295

ABSTRACT

Given the recent advances in management and understanding of breast cancer, a standardized pathology report reflecting these changes is critical. To meet this need, the Breast Pathology Study Group of the Korean Society of Pathologists has developed a standardized pathology reporting format for breast cancer, consisting of ‘standard data elements,’ ‘conditional data elements,’ and a biomarker report form. The ‘standard data elements’ consist of the basic pathologic features used for prognostication, while other factors related to prognosis or diagnosis are described in the ‘conditional data elements.’ In addition to standard data elements, all recommended issues are also presented. We expect that this standardized pathology report for breast cancer will improve diagnostic concordance and communication between pathologists and clinicians, as well as between pathologists inter-institutionally.

9.
Journal of Breast Cancer ; : 359-366, 2021.
Article in English | WPRIM | ID: wpr-891285

ABSTRACT

Purpose@#The tumor-infiltrating lymphocytes (TILs) expression in breast cancer is a positive prognostic marker for certain breast cancer subtypes. We evaluated the efficacy of dual antihuman epidermal growth factor receptor 2 (HER2) blockade in HER2-positive breast cancer and hypothesized that high TILs tumors are associated with better outcomes. @*Methods@#A total of 176 patients who were treated with neoadjuvant docetaxel, carboplatin, trastuzumab, and pertuzumab (TCHP) between December 2015 and December 2018 were reviewed. They were grouped based on a cut-off value of the stromal TILs grade (≤ 20% TILs, > 20% TILs). @*Results@#In total, 107 patients (60.8%) achieved pathological complete response (pCR).Hormone receptor (HR)-negativity (p = 0.001) and a high TILs grade (p = 0.022) were independent predictors of pCR. Among the HR-negative patients, high TILs tumors were significantly associated with pCR (p = 0.035). @*Conclusion@#HR status and the TILs grade are significantly correlated with pCR in dual anti-HER2 neoadjuvant therapy. The evaluation of the TILs at baseline may be beneficial for predicting pCR in HER2-positive breast cancer.

10.
Journal of Breast Cancer ; : 164-174, 2021.
Article in English | WPRIM | ID: wpr-891277

ABSTRACT

Purpose@#In this trial, we investigated the efficacy and safety of adjuvant letrozole for hormone receptor (HR)-positive breast cancer. Here, we report the clinical outcome in postmenopausal women with HR-positive breast cancer treated with adjuvant letrozole according to estrogen receptor (ER) expression levels. @*Methods@#In this multi-institutional, open-label, observational study, postmenopausal patients with HR-positive breast cancer received adjuvant letrozole (2.5 mg/daily) for 5 years unless they experienced disease progression or unacceptable toxicity or withdrew their consent. The patients were stratified into the following 3 groups according to ER expression levels using a modified Allred score (AS): low, intermediate, and high (AS 3–4, 5–6, and 7–8, respectively). ER expression was centrally reviewed. The primary objective was the 5-year disease-free survival (DFS) rate. @*Results@#Between April 25, 2010, and February 5, 2014, 440 patients were enrolled. With a median follow-up of 62.0 months, the 5-year DFS rate in all patients was 94.2% (95% confidence interval [CI], 91.8–96.6). The 5-year DFS and recurrence-free survival (RFS) rates did not differ according to ER expression; the 5-year DFS rates were 94.3% and 94.1%in the low-to-intermediate and high expression groups, respectively (p = 0.6), and the corresponding 5-year RFS rates were 95.7% and 95.4%, respectively (p = 0.7). Furthermore, 25 patients discontinued letrozole because of drug toxicity. @*Conclusion@#Treatment with adjuvant letrozole showed very favorable treatment outcomes and good tolerability among Korean postmenopausal women with ER-positive breast cancer, independent of ER expression.

11.
Journal of Pathology and Translational Medicine ; : 1-15, 2021.
Article in English | WPRIM | ID: wpr-874885

ABSTRACT

Given the recent advances in management and understanding of breast cancer, a standardized pathology report reflecting these changes is critical. To meet this need, the Breast Pathology Study Group of the Korean Society of Pathologists has developed a standardized pathology reporting format for breast cancer, consisting of ‘standard data elements,’ ‘conditional data elements,’ and a biomarker report form. The ‘standard data elements’ consist of the basic pathologic features used for prognostication, while other factors related to prognosis or diagnosis are described in the ‘conditional data elements.’ In addition to standard data elements, all recommended issues are also presented. We expect that this standardized pathology report for breast cancer will improve diagnostic concordance and communication between pathologists and clinicians, as well as between pathologists inter-institutionally.

12.
Journal of Breast Cancer ; : 224-229, 2020.
Article | WPRIM | ID: wpr-835599

ABSTRACT

We report a case of recurrence as Paget's disease at the core needle biopsy (CNB) entry site in a patient with microinvasive ductal carcinoma who underwent nipple-areola-skin sparing mastectomy (NASSM) and autologous reconstruction. Clinically diagnosed recurrences associated with previous needle procedures for malignant breast lesions are rare and usually occur in patients who have not received radiation therapy. The present case involved local recurrence at the skin puncture site of a patient diagnosed based on CNB findings who underwent NASSM without receiving radiation therapy. Although the removal of the CNB tract with resected breast tissue is not always emphasized, the skin puncture site should be recorded to detect abnormal skin changes after surgery for the timely detection and management of complications.

13.
Cancer Research and Treatment ; : 1103-1111, 2020.
Article | WPRIM | ID: wpr-831134

ABSTRACT

Purpose@#Assessing the status of metastasis in sentinel lymph nodes (SLNs) by pathologists is an essential task for the accurate staging of breast cancer. However, histopathological evaluation of sentinel lymph nodes by a pathologist is not easy and is a tedious and time-consuming task. The purpose of this study is to review a challenge competition (HeLP 2018) to develop automated solutions for the classification of metastases in hematoxylin and eosin–stained frozen tissue sections of SLNs in breast cancer patients. @*Materials and Methods@#A total of 297 digital slides were obtained from frozen SLN sections, which include post–neoadjuvant cases (n = 144, 48.5%) in Asan Medical Center, South Korea. The slides were divided into training, development, and validation sets. All of the imaging datasets have been manually segmented by expert pathologists. A total of 10 participants were allowed to use the Kakao challenge platform for six weeks with two P40 GPUs. The algorithms were assessed in terms of the AUC (area under receiver operating characteristic curve). @*Results@#The top three teams showed 0.986, 0.985, and 0.945 AUCs for the development set and 0.805, 0.776, and 0.765 AUCs for the validation set. Micrometastatic tumors, neoadjuvant systemic therapy, invasive lobular carcinoma, and histologic grade 3 were associated with lower diagnostic accuracy. @*Conclusion@#In a challenge competition, accurate deep learning algorithms have been developed, which can be helpful in making frozen diagnosis of intraoperative sentinel lymph node biopsy. Whether this approach has clinical utility will require evaluation in a clinical setting

14.
Journal of Breast Cancer ; : 553-559, 2020.
Article in English | WPRIM | ID: wpr-898964

ABSTRACT

The combination of luteinizing hormone-releasing hormone analogs (LHRHa) with tamoxifen is used as a standard postoperative adjuvant therapy in patients with hormone receptor-positive/premenopausal breast cancer. Long-acting LHRHa formulations offer advantages in terms of patient convenience. However, data on the effectiveness of the 3-month (3M) acting formulation are still insufficient. This study was performed on patients who received the 3M LHRHa after surgery. The serum estradiol (E2) and follicle-stimulating hormone levels were measured before surgery, and periodically after surgery. In total, 318 patients were included in the study and analyzed. The mean E2 level before surgery was 63.7 pg/mL, while the mean E2 level during the administration of 3M LHRHa was 4.9 pg/mL.None of the patients were menstruating and had E2 values above 30.0 pg/mL. It is thought that the 3M LHRHa formulation can suppress the ovarian function effectively and be safely used to improve compliance.

15.
Journal of Breast Cancer ; : 665-671, 2020.
Article in English | WPRIM | ID: wpr-898961

ABSTRACT

Bilateral axillary Paget's disease in men is a rare occurrence with limited reports on its diagnosis, treatment, and prognosis. Here, we report the case of a 55-year-old Korean male, who presented with a palpable mass and eczematous skin lesion on the left axilla. An incisional biopsy and histopathologic examination indicated invasive ductal carcinoma with Paget's disease arising in the accessory breast. Magnetic resonance imaging and positron emission tomography revealed no malignancy in the normal breast and other organs. The patient was subjected to a wide excision, wherein the left axillary lymph node was dissected, followed by the administration of adjuvant chemotherapy and radiation therapy. After 17 months of disease-free survival, the patient was diagnosed with Paget's disease of the contralateral accessory breast. He underwent wide excision surgery along with radiation therapy. To the best of our knowledge, this is the first report of bilateral extramammary Paget's disease in a male.

16.
Journal of Breast Cancer ; : 553-559, 2020.
Article in English | WPRIM | ID: wpr-891260

ABSTRACT

The combination of luteinizing hormone-releasing hormone analogs (LHRHa) with tamoxifen is used as a standard postoperative adjuvant therapy in patients with hormone receptor-positive/premenopausal breast cancer. Long-acting LHRHa formulations offer advantages in terms of patient convenience. However, data on the effectiveness of the 3-month (3M) acting formulation are still insufficient. This study was performed on patients who received the 3M LHRHa after surgery. The serum estradiol (E2) and follicle-stimulating hormone levels were measured before surgery, and periodically after surgery. In total, 318 patients were included in the study and analyzed. The mean E2 level before surgery was 63.7 pg/mL, while the mean E2 level during the administration of 3M LHRHa was 4.9 pg/mL.None of the patients were menstruating and had E2 values above 30.0 pg/mL. It is thought that the 3M LHRHa formulation can suppress the ovarian function effectively and be safely used to improve compliance.

17.
Journal of Breast Cancer ; : 665-671, 2020.
Article in English | WPRIM | ID: wpr-891257

ABSTRACT

Bilateral axillary Paget's disease in men is a rare occurrence with limited reports on its diagnosis, treatment, and prognosis. Here, we report the case of a 55-year-old Korean male, who presented with a palpable mass and eczematous skin lesion on the left axilla. An incisional biopsy and histopathologic examination indicated invasive ductal carcinoma with Paget's disease arising in the accessory breast. Magnetic resonance imaging and positron emission tomography revealed no malignancy in the normal breast and other organs. The patient was subjected to a wide excision, wherein the left axillary lymph node was dissected, followed by the administration of adjuvant chemotherapy and radiation therapy. After 17 months of disease-free survival, the patient was diagnosed with Paget's disease of the contralateral accessory breast. He underwent wide excision surgery along with radiation therapy. To the best of our knowledge, this is the first report of bilateral extramammary Paget's disease in a male.

18.
Cancer Research and Treatment ; : 1527-1539, 2019.
Article in English | WPRIM | ID: wpr-763208

ABSTRACT

PURPOSE: BioPATH is a non-interventional study evaluating the relationship of molecular biomarkers (PTEN deletion/downregulation, PIK3CA mutation, truncated HER2 receptor [p95HER2], and tumor HER2 mRNA levels) to treatment responses in Asian patients with HER2+ advanced breast cancer treated with lapatinib and other HER2-targeted agents. MATERIALS AND METHODS: Female Asian HER2+ breast cancer patients (n=154) who were candidates for lapatinib-based treatment following metastasis and having an available primary tumor biopsy specimen were included. The primary endpoint was progression-free survival (PFS). Secondary endpoints were response rate, overall survival on lapatinib, correlation between biomarker status and PFS for any previous trastuzumab-based treatment, and conversion/conservation rates of the biomarker status between tissue samples collected at primary diagnosis and at recurrence/metastasis. Potential relationships between tumor mRNA levels of HER2 and response to lapatinib-based therapy were also explored. RESULTS: p95HER2, PTEN deletion/downregulation, and PIK3CA mutation did not demonstrate any significant co-occurrence pattern and were not predictive of clinical outcomes on either lapatinib-based treatment or any previous trastuzumab-based therapy in the metastatic setting. Proportions of tumors positive for p95HER2 expression, PIK3CA mutation, and PTEN deletion/down-regulation at primary diagnosis were 32%, 31.2%, and 56.2%, respectively. Despite limited availability of paired samples, biomarker status patterns were conserved in most samples. HER2 mRNA levels were not predictive of PFS on lapatinib. CONCLUSION: The prevalence of p95HER2 expression, PIK3CA mutation, and PTEN deletion/downregulation at primary diagnosis were similar to previous reports. Importantly, no difference was observed in clinical outcome based on the status of these biomarkers, consistent with reports from other studies.


Subject(s)
Female , Humans , Asian People , Biomarkers , Biopsy , Breast Neoplasms , Breast , Diagnosis , Disease-Free Survival , Neoplasm Metastasis , Prevalence , RNA, Messenger , Trastuzumab
19.
Journal of Breast Cancer ; : 387-398, 2019.
Article in English | WPRIM | ID: wpr-764282

ABSTRACT

PURPOSE: The extension of endocrine therapy beyond 5 years for recurrence-free survivors of breast cancer improves survival; however, the issue on how to clinically identify appropriate candidates remains controversial. This study aimed to identify prognostic factors for breast-cancer-specific mortality in patients who have had 5 years of tamoxifen treatment and categorize subgroups based on the risk of death using combinations of these prognostic factors to assist in the clinical decision to perform further endocrine therapy. METHODS: In total, 3,158 patients with breast cancer were enrolled. Breast cancer-specific survival rates after 5 years of tamoxifen treatment were calculated, and associated prognostic factors were analyzed using a Cox proportional-hazards model. RESULTS: An age extreme at diagnosis (i.e., 2 cm, and positive lymphovascular invasion were robust independent prognostic factors for late breast cancer-specific death in tamoxifen-treated patients (hazard ratio [HR] = 2.162, 1.739, and 1.993; p = 0.001, 0.047, and 0.011, respectively). Lymph node metastasis and progesterone receptor negativity had borderline significance in this regard (HR = 1.741 and 1.638, p = 0.099 and 0.061). The study patients were classified into four groups according to the number of prognostic indicators, i.e., low, intermediate, high, and extremely high risk. The additional 5- and 10-year cumulative risks of breast cancer-specific death were 0.8% and 1.5% in the low-risk group, 0.9% and 3.9% in the intermediate-risk group, 1.3% and 7.3% in the high-risk group, and 4.8% and 13.8% in the extremely high-risk group, respectively. CONCLUSION: This new risk stratification system for late mortality in breast cancer can be used to identify the right candidates for extended endocrine therapy after 5 years of tamoxifen treatment.


Subject(s)
Humans , Breast Neoplasms , Breast , Diagnosis , Lymph Nodes , Mortality , Neoplasm Metastasis , Prognosis , Receptors, Progesterone , Survival Rate , Survivors , Tamoxifen
20.
Journal of Pathology and Translational Medicine ; : 308-316, 2019.
Article in English | WPRIM | ID: wpr-766039

ABSTRACT

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.


Subject(s)
Adolescent , Female , Humans , Young Adult , Arm , Breast , Chemoradiotherapy , Desmin , Diagnosis , Lung , Lymph Nodes , Mastectomy , Myogenin , Neoplasm Metastasis , Pathology , Radiotherapy , Rare Diseases , Recurrence , Rhabdomyosarcoma , Sarcoma
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