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.
Adolescent ; Arm ; Breast ; Chemoradiotherapy ; Chungcheongnam-do ; Desmin ; Diagnosis ; Female ; Humans ; Lung ; Lymph Nodes ; Mastectomy ; Myogenin ; Neoplasm Metastasis ; Pathology ; Radiotherapy ; Rare Diseases ; Recurrence ; Rhabdomyosarcoma ; Sarcoma ; Young Adult

Quality control for genetic analysis has become more important with a drastic increase in testing volume and clinical demands. The molecular diagnostics division of the Korean Association of Quality Assurance for Clinical Laboratory conducted two trials in 2017 on the basis of molecular diagnostics surveys, involving 53 laboratories. The molecular diagnostics surveys included 37 tests: gene rearrangement tests for leukemia (BCR-ABL1, PML-RARA, AML1-ETO, and TEL-AML1), genetic tests for Janus kinase 2, FMS-like tyrosine kinase 3-internal tandem duplication, FMS-like tyrosine kinase 3-tyrosine kinase domain, nucleophosmin, cancer-associated genes (KRAS, EGFR, KIT, and BRAF), hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), Li-Fraumeni syndrome (TP53), Wilson disease (ATP7B), achondroplasia (FGFR3), hearing loss and deafness (GJB2), Avellino (TGFBI), multiple endocrine neoplasia 2 (RET), Huntington disease, spinocerebellar ataxia, spinal and bulbar muscular atrophy, mitochondrial encephalopathy with lactic acidosis and stroke-like episodes, myoclonic epilepsy ragged red fibre, Leber hereditary optic neuropathy, Prader-raderd Angelman syndrome, Duchenne muscular dystrophy, spinal muscular atrophy, fragile X syndrome, apolipoprotein E genotyping, methylenetetrahydrofolate reductase genotyping, and ABO genotyping. Molecular genetic surveys revealed excellent results for most participants. The external quality assessment program for genetic analysis in 2017 proved useful for continuous education and the evaluation of quality improvement.
Achondroplasia ; Acidosis, Lactic ; Angelman Syndrome ; Apolipoproteins ; Brain Diseases ; Breast ; Deafness ; Education ; Epilepsies, Myoclonic ; Fragile X Syndrome ; Gene Rearrangement ; Hearing Loss ; Hepatolenticular Degeneration ; Huntington Disease ; Janus Kinase 2 ; Korea* ; Laboratory Proficiency Testing ; Leukemia ; Li-Fraumeni Syndrome ; Methylenetetrahydrofolate Reductase (NADPH2) ; Molecular Biology ; Multiple Endocrine Neoplasia ; Muscular Atrophy, Spinal ; Muscular Disorders, Atrophic ; Muscular Dystrophy, Duchenne ; Optic Atrophy, Hereditary, Leber ; Ovarian Neoplasms ; Pathology, Molecular* ; Phosphotransferases ; Quality Control ; Quality Improvement ; Spinocerebellar Ataxias ; Vascular Endothelial Growth Factor Receptor-1

The development of ectopic breast tissue is attributable to the failure of primitive mammary tissue to regress after the development of the mammary ridge, except at pectoral breast sites, and is most often evident in the axillae. Several benign and malignant breast diseases have been reported in ectopic axillary breast tissues. The most common cancerous pathology of ectopic breast tissue is invasive ductal carcinoma. Ectopic breast cancer presenting with simultaneous primary cancer of the pectoral breast is extremely rare. Herein, we report an invasive micropapillary carcinoma of an axillary ectopic breast, combined with a synchronous ductal carcinoma in situ in the contralateral pectoral breast of a 61-year-old woman.
Axilla ; Breast Diseases ; Breast Neoplasms ; Breast* ; Carcinoma, Ductal* ; Carcinoma, Intraductal, Noninfiltrating* ; Choristoma ; Female ; Humans ; Middle Aged ; Pathology

OBJECTIVETo observe the clinical effect of float needle therapy combined with reperfusion activity for pain induced by cyclomastopathy.

METHODSThirty-five female patients with cyclomastopathy were randomly divided into a comprehensive group (18 cases) and a float needle group (17 cases). In the comprehensive group, float needle manipulation was used at the centre of the biceps brachii belly or the ligature between the affected nipple and breast nodule, about 4 cm beside the exterior margin of the breast, and the reperfusion activity of the affected upper limb and breast was combined. In the float needle group, simple float needle therapy was adopted. In the two groups, treatment was started 7 ± 3 days before menstruation, once every other day. After 3-time treatment, the changes of short form McGill Pain Questionnaire (SF-MPQ) scores before and after treatment, the time of pain relieved during the first treatment, recurrence in 3 months after treatment and the adverse reaction were observed. Also, the clinical effects of the two groups were compared.

RESULTSImmediately at the end of the first treatment,after 3-time treatment and while followed up for one month, each item score and the total score of SF-MPQ were decreased apparently than the scores before treatment (all P < 0.05), and all the scores mentioned above of the comprehensive group were declined more obviously than those of the float needle group (all P < 0.05). The time of pain relieved during the first treatment of the comprehensive group was much shorter than that of the float needle group [(94.72 ± 33.67) s vs (162.06 ± 29.16) s, P < 0.01]. The recurrence rate of the comprehensive group in 3 months after treatment was 5.9% (1/17), which was better than 20.0% (3/15) of the float needle group (P < 0.01).

CONCLUSIONFloat needle therapy combined with reperfusion activity and simple float needle therapy can both safely and effectively improve cyclomastopathy, and the combination therapy is better than simple float needle therapy in the aspects of pain relieving effect at once and the long term effect.

Acupuncture Therapy ; Adult ; Breast Diseases ; pathology ; therapy ; Female ; Humans ; Hyperplasia ; Mammary Glands, Human ; pathology ; Middle Aged ; Needles ; Pain Measurement

STUDY DESIGN: Retrospective study. PURPOSE: To note the magnetic resonance imaging (MRI) differences between pathologically proven cases of atypical spinal tuberculosis and spinal metastasis in 40 cases. OVERVIEW OF LITERATURE: Spinal tuberculosis, or Pott's spine, constitutes less than 1% of all cases of tuberculosis and can be associated with a neurologic deficit. Breast, prostate and lung cancer are responsible for more than 80% of metastatic bone disease cases, and spine is the most common site of bone metastasis. Thus, early diagnosis and prompt management of these pathologies are essential in preventing various complications. METHODS: We retrospectively reviewed 40 cases of atypical tuberculosis and metastasis affecting the spine from the year 2012 to 2014, with 20 cases each that were proven by histopathological examination. MR imaging was performed on 1.5 T MR-Scanner (Magnetom Avanto, Siemens) utilizing standard surface coils of spine with contrast injection. Chi-square test was used for determining the statistical significance and p-values were calculated. RESULTS: The most common site of involvement was the thoracic spine, seen in 85% cases of metastasis and 65% cases of Pott's spine (p=0.144). The mean age of patients with tubercular spine was found to be 40 years and that of metastatic spine was 56 years. The following MR imaging findings showed statistical significance (p<0.05): combined vertebral body and posterior elements involvement, skip lesions, solitary lesion, intra-spinal lesions, concentric collapse, abscess formation and syrinx formation. CONCLUSIONS: Tuberculosis should be considered in the differential diagnosis of various spinal lesions including metastasis, fungal spondylodiskitis, sarcoidosis and lymphoma, particularly in endemic countries. Spinal tuberculosis is considered one of the great mimickers of disease as it could present in a variety of typical and atypical patterns, so proper imaging must be performed in order to facilitate appropriate treatment.
Abscess ; Bone Diseases ; Breast ; Diagnosis, Differential ; Discitis ; Early Diagnosis ; Humans ; Lung Neoplasms ; Lymphoma ; Magnetic Resonance Imaging* ; Neoplasm Metastasis* ; Neurologic Manifestations ; Pathology ; Prostate ; Retrospective Studies* ; Sarcoidosis ; Spine* ; Tuberculosis ; Tuberculosis, Spinal

INTRODUCTIONThis study aimed to evaluate the vascular pattern of solid breast lesions using power Doppler ultrasonography (PDUS) and assess whether the presence of intratumoural penetrating vessels can predict breast cancer malignancy.

METHODSGreyscale ultrasonography (US) and PDUS were prospectively performed on 91 women in Malaysia with histopathologically proven breast lesions. The diagnostic accuracy of greyscale US, PDUS, and both greyscale US and PDUS was calculated and compared.

RESULTSThe 91 women had 102 breast lesions (55 benign, 47 malignant). Of the 47 malignant lesions, 36 demonstrated intratumoural penetrating vessels. The sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of greyscale US findings in diagnosing malignancy were 100.0%, 71.4%, 74.1% and 100.0%, respectively. The presence of calcification in the breast lesion and the margin, shape and posterior acoustic features of the lesion were significant parameters in predicting malignancy (p < 0.01). The sensitivity, specificity, PPV and NPV of the presence of intratumoural penetrating vessels in predicting malignancy were 76.5%, 80.0%, 76.5% and 80.0%, respectively. When both greyscale US and PDUS were used, there was a significant correlation in predicting malignancy (p < 0.05). The specificity and PPV values of the combined greyscale US and PDUS method (89.0% and 85.7%, respectively) were higher than those of greyscale US or PDUS alone.

CONCLUSIONFlow patterns revealed by PDUS can be useful for differentiating benign and malignant breast lesions. The visualisation of penetrating vessels in solid breast lesions can be used to complement greyscale US findings in predicting malignancy.

Adolescent ; Adult ; Aged ; Biopsy ; Breast Diseases ; diagnostic imaging ; Breast Neoplasms ; diagnostic imaging ; pathology ; Contrast Media ; Diagnosis, Differential ; Female ; Humans ; Malaysia ; Middle Aged ; Predictive Value of Tests ; Prospective Studies ; Reproducibility of Results ; Sensitivity and Specificity ; Ultrasonography, Doppler ; Ultrasonography, Mammary ; Young Adult

Primary neuroendocrine carcinoma of the breast (NECB) is a very rare type of invasive breast carcinoma. Most NECBs appear on breast imaging as solid masses of varied shapes and margins, and have worse clinical outcomes than does invasive ductal carcinoma, not otherwise specified. However, there have been no reports to date regarding NECB with features of inflammatory breast carcinoma. Here, we describe the clinical, radiol-ogic, and pathologic findings of the first reported case of primary NECB presenting as inflammatory breast carcinoma. The patient complained of diffuse right breast enlargement and erythema. Mammography identified severe breast edema and axillary lymphadenopathy. Ultrasound detected an irregular, angular, hypoechoic mass with dermal lymphatic dilatation. On magnetic resonance imaging, the mass had rim enhancement and the entire right breast showed heterogeneous enhancement with malignant kinetic features. Pathology identified the mass as a primary NECB with positive for synaptophysin, CD56, estrogen and progesterone receptors.
Breast Neoplasms ; Breast* ; Carcinoma, Ductal ; Carcinoma, Neuroendocrine* ; Dilatation ; Edema ; Erythema ; Estrogens ; Humans ; Inflammatory Breast Neoplasms* ; Lymphatic Diseases ; Magnetic Resonance Imaging ; Mammography ; Pathology ; Receptors, Progesterone ; Synaptophysin ; Ultrasonography

Irregular hypoechoic masses in the breast do not always indicate malignancies. Many benign breast diseases present with irregular hypoechoic masses that can mimic carcinoma on ultrasonography. Some of these diseases such as inflammation and trauma-related breast lesions could be suspected from a patient's symptoms and personal history. Careful ultrasonographic examination and biopsy could help to differentiate these from malignancies.
Abscess/ultrasonography ; Breast Diseases/pathology ; Breast Neoplasms/pathology/*ultrasonography ; Carcinoma/pathology/ultrasonography ; Female ; Fibroadenoma/pathology/ultrasonography ; Fibrocystic Breast Disease/pathology/ultrasonography ; Granulomatous Mastitis/pathology/ultrasonography ; Humans ; Ultrasonography, Mammary

OBJECTIVETo observe the efficacy difference in the treatment of breast hyperplasia between the combined therapy of auricular point sticking and Xiaopijian and the simple application of Xiaopijian.

METHODSNinety-one patients were randomized into an observation group (46 cases) and a control group (45 cases). In the observation group, the sticking therapy on the auricular points was applied in combination with the oral medication of Chinese herbal medicine, Xiaopijian. Auricular points included Ruxian, Neifenmi (CO18), Luanchan, Shenmen (TF4), Gan (CO2), Pi (CO13). The auricular point sticking therapy was applied once a week on the auricular points of one side alternatively. Xiaopijian was the self-prepared decoction. The main ingredients are radix bupleuri Bupleurum chinense, spica prunellae prunella vulgaris and radix peoniae alba Paeonia lactiflora, 30 mL each time, three times a day. In the control group, Xiaopijian was simply prescribed for oral administration, 30 mL each time, 3 times a day. The treatment was discontinued during menstruation in the two groups. The menstrual cycle of one month made one session of treatment. The treatments for 3 sessions were observed. The scores of symptoms and physical signs, including the degree of breast pain, hardness and size of breast masses as well as the scores of general and supplementary symptoms were compared before and after treatment in the patients of the two groups. The clinical efficacy was compared between the two groups.

RESULTSAfter treatment, the scores of symptoms and physical signs were reduced apparently as compared with those before treatment in the patients of the two groups (both P<0. 05). The score reduction in the observation group was much more than that in the control group (11.02±1. 78 vs 9.82±1. 53, P<0. 05). The total effective rate was 95.7% (44/46) in the observation group, higher apparently than 80. 0% (36/45, P<0. 05).

CONCLUSIONThe combined therapy of auricular point sticking and Xiaopijian achieves the superior efficacy on breast hyperplasia as compared with the simple application of Xiaopijian.

Acupuncture Points ; Acupuncture, Ear ; Adult ; Breast ; pathology ; Breast Diseases ; drug therapy ; pathology ; therapy ; Combined Modality Therapy ; Drugs, Chinese Herbal ; administration & dosage ; Female ; Humans ; Hyperplasia ; drug therapy ; pathology ; therapy ; Middle Aged ; Young Adult

PURPOSE: The purpose of this study was to describe the breast ultrasonography (US) features and to investigate whether performing a core biopsy is warranted in young women having palpable solid breast masses. METHODS: A total of 76 solid palpable masses in 68 consecutive women (< or =25 years old) underwent tissue diagnosis by percutaneous core biopsy. Two radiologists, who were blinded to the clinical history and histopathology, independently evaluated the US features according to Breast Imaging-Reporting and Data System (BI-RADS) lexicon. The frequency of benign and malignant descriptor terms that were used to characterize the lesions were compared to the final pathology. RESULTS: All 76 palpable solid masses yielded benign pathology. On the US, the shape of the mass was described by radiologists 1 and 2 as oval or round (63.2% and 71.1%), margin as circumscribed (68.4% and 77.6%) and orientation as parallel (85.5% and 90.8%); the frequency of using all three benign descriptors was 61.8% and 68.5%, respectively. Suspicious descriptors were used less frequently by radiologists 1 and 2 including irregular shape (9.2% and 13.1%), non-circumscribed margin (31.6% and 22.4%) and non-parallel orientation (14.5% and 9.2%); the frequency of using all three suspicious descriptors was 9.2% and 11.8%, respectively. CONCLUSION: Despite the variable US features, breast malignancy seems extremely low in 25 years or younger women for palpable breast lesions. Using the BI-RADS lexicon, US accurately predicted benignity in about two thirds of our patients, supporting US surveillance as a safe alternative to invasive tissue sampling in this setting.
Biopsy ; Breast Diseases ; Breast* ; Diagnosis ; Female ; Humans ; Information Systems ; Pathology ; Subject Headings ; Ultrasonography ; Ultrasonography, Mammary ; Young Adult