Rare Breast Lesion Research Articles

Myoid Hamartoma of the Breast With HMGA2 Rearrangement and Associated In-Situ and Invasive Carcinoma: Case Report and Review of Literature.

Myoid hamartoma of the breast is an uncommon benign breast neoplasm. We describe an unusual example of an in-situ and invasive carcinoma arising in a myoid hamartoma. We also describe the unique molecular findings in the myoid hamartoma and review the pertinent literature. In radiology studies, the mammogram showed increased density/attenuation, and the ultrasound revealed a change in the overall echogenicity with hyperechoic and anechoic areas. The stromal compartment contained smooth muscle bundles and adipose tissue on microscopic examination. The stromal cells showed HMGA2 gene rearrangement by fluorescence in-situ hybridization analysis and overexpression of HMGA2 by immunohistochemistry. The breast myoid hamartoma is likely underpinned by HMGA2 gene rearrangement and HMGA2 protein overexpression, which can be used as an ancillary test to diagnose this rare breast lesion. Although most myoid hamartomas have a benign clinical course, the likelihood of malignant transformation should always be considered.

MALIGNANT PHYLLODES TUMORS – A SINGLE HOSPITAL ANALYSIS

Abstract Introduction/Objective Phyllodes tumor (PT), a rare fibroepithelial breast lesion, affects around 1% of breast tumors, primarily in women aged 40–50 years old. The interpretive subjectivity, histological overlap, and limited molecular predictors, necessitate further investigation into their pathogenesis. Prognosis relies on WHO grading based on stromal proliferation. Malignant-PTs are rare and challenging to diagnose, posing a diagnostic challenge with breast sarcomas and metaplastic carcinomas. The study aims to highlight morphological features of malignant-PTs and their correlation on patients’ survival and prognosis. Methods/Case Report Retrospective single-institute study of 33 women who were diagnosed with malignant-PT according to WHO criteria and underwent excision were identified from database spanning 2005-2024. Clinical and pathologic characteristics including biopsy results, histological features, imaging findings, and survival outcomes were analyzed statistically using Kaplan-Meier method. Results (if a Case Study enter NA) Patients aged 28-72 years underwent excision, with a mean of 50 years and tumor sizes ranging 1.1-34 cm with a mean of 11.5 cm. The majority (19 cases) were classified as pT stage I or II, with 14 cases at more advanced stages. Malignant heterologous elements were found in 10 cases (30%). Positive margins were noted in 12 excisions (36%). Besides tumor recurrence in 3 cases (9%) within 33 months post-excision, metastasis was observed in 8 cases, occurring between 4-60 months post-excision. Six patients died from metastasis within 11-62 months post-diagnosis. Conclusion The presence of negative margins and appropriate treatment was associated with a lower risk of recurrence and metastasis. However, they were not linked to enhance survival rates. Survival was primarily correlated to the absence of heterologous components and PT’s staging.

Case report of a rare benign breast lesion: Unveiling nipple adenoma

Nipple adenoma is a rare and benign proliferative lesion originating from the lactiferous ducts of the nipple. It predominantly affects middle-aged women and can mimic the clinical and radiological features of more concerning breast malignancies. Due to its uncommon occurrence and overlapping characteristics with malignant lesions, a definitive diagnosis often requires histopathological examination. We present a case of nipple adenoma in a 30-year-old woman, detailing the clinical, radiological, and histopathological features, as well as the management and outcomes.

Immunohistochemical marker profiles for the differentiation of collagenous spherulosis from adenoid cystic carcinoma of the breast

Collagenous spherulosis (CS) is a rare breast lesion of unknown histogenesis. Adenoid cystic carcinoma (ACC) is a rare basal-like breast carcinoma with low histological grade. CS is a benign lesion but resembles ACC. Both lesions show a similar histomorphology and feature bilineage differentiation. This study compared immunohistochemical markers in CS and ACC.We compiled n = 13 CS cases and n = 18 mammary ACCs. Fourteen marker proteins (ER, PR, HER2, GATA3, CK7, E-cadherin, CD117, CK5/14, p40, p63, SMA, CD10, calponin, P-cadherin) were evaluated by immunohistochemistry (IHC). MYB rearrangement, a common alteration in ACC, was assessed by fluorescence in situ hybridization.Patient age ranged between 40-60 years for CS lesions and 30–90 years for ACCs. 7/13 (54%) CS cases harbored a lobular carcinoma in situ (LCIS) in the luminal component. One CS/LCIS lesion occurred in a carrier of a pathogenic germline variant in CDH1/E-cadherin. MYB rearrangement was detected in 0/11 (0%) CS and 6/16 (37%) ACC cases (P = 0.054). CS was associated with expression of ER in the luminal component (P < 0.001), E-cadherin loss in the luminal component (P = 0.045), and expression of CD10 and calponin in the basal component (P < 0.001). Furthermore, CS was associated with GATA3 expression in the luminal component (12/13 [92%] versus 5/18 [27%], P < 0.001).In summary, IHC for GATA3 and E-cadherin may contribute to the differential diagnosis between CS and ACC, although these markers are not exclusively expressed in either lesion. Histologic evaluation has to take into account that CS is frequently colonized by LCIS, requiring thorough correlation of histomorphology and immunohistochemical features.

Breast tissue imaging atlas using ultra-fast confocal microscopy to identify cancer lesions.

New generation ultra-fast fluorescence confocal microscopy (UFCM) allows to image histological architecture of fresh breast tissue and may be used for ex vivo intraoperative analysis for margin status. The criteria to identify breast tumoral and non-tumoral tissues in UFCM images are still objects of investigation. The objective of the study was to create an atlas of ex vivo UFCM images of breast tissues and breast carcinomas based on the first extensive collection of large field-of-view UFCM breast images. One hundred sixty patients who underwent conserving surgery for breast cancer were included. Their fresh surgical specimens were sliced, stained with acridine orange, and imaged at high resolution with large-field-of-view UFCM. The resulting images were digitally false colored to resemble frozen sections. Each UFCM image was correlated with the corresponding definitive histology. Representative images of normal tissue, inflammation, benign lesions, invasive carcinoma (IC), and ductal carcinoma in situ (DCIS) were collected. A total of 320 large-field images were recorded from 58 IC of no special type, 44 invasive lobular carcinomas, 1 invasive mucinous carcinoma, 47 DCIS, 2 lobular carcinomas in situ, and 8 specimens without cancer. Representative images of the main components of the normal breast and the main types of ICs and DCIS were annotated to establish an UFCM atlas. UFCM enables the imaging of the fresh breast tissue sections. Main morphological criteria defined in traditional histopathology such as tissue architecture and cell features can be applied to describe UFCM images content. The generated atlas of the main normal or tumoral tissue features will support the adoption of this optical technology for the intraoperative examination of breast specimens in clinical practice as it can be used to train physicians on UFCM images and develop artificial intelligence algorithms. Further studies are needed to document rare breast lesions.

Chondrolipoma of the Breast: A Myofibroblastoma Variant or a Distinct Lesion?

The entity commonly referred to as chondrolipoma is a rare and enigmatic breast lesion with unclear histogenesis and a complete lack of molecular characterization. It is uncertain whether it represents a hamartoma, choristoma, or a distinct neoplasm, including possibly a variant of mammary-type myofibroblastoma. We report two additional chondrolipomatous lesions of the breast. The lesions had varying histologic and immunohistochemical features similar to myofibroblastoma, including the loss of retinoblastoma (Rb) protein expression in one lesion. Molecular analysis by chromosomal microarray analysis performed on a second lesion did not demonstrate a loss of 13q14 or 16q typical of myofibroblastoma. Our findings further support the concept that at least a subset of breast lesions that historically have been classified as chondrolipoma are related to myofibroblastoma. However, the lack of myofibroblastoma-specific molecular alterations in one lesion suggests chondrolipomas may also have varying origins.

A Preliminary Investigation into Search and Matching for Tumor Discrimination in World Health Organization Breast Taxonomy Using Deep Networks

Breast cancer is one of the most common cancers affecting women worldwide. It includes a group of malignant neoplasms with a variety of biological, clinical, and histopathologic characteristics. There are more than 35 different histologic forms of breast lesions that can be classified and diagnosed histologically according to cell morphology, growth, and architecture patterns. Recently, deep learning, in the field of artificial intelligence, has drawn a lot of attention for the computerized representation of medical images. Searchable digital atlases can provide pathologists with patch-matching tools, allowing them to search among evidently diagnosed and treated archival cases, a technology that may be regarded as computational second opinion. In this study, we indexed and analyzed the World Health Organization breast taxonomy (Classification of Tumors fifth ed.) spanning 35 tumor types. We visualized all tumor types using deep features extracted from a state-of-the-art deep-learning model, pretrained on millions of diagnostic histopathology images from the Cancer Genome Atlas repository. Furthermore, we tested the concept of a digital “atlas” as a reference for search and matching with rare test cases. The patch similarity search within the World Health Organization breast taxonomy data reached >88% accuracy when validating through “majority vote” and >91% accuracy when validating using top n tumor types. These results show for the first time that complex relationships among common and rare breast lesions can be investigated using an indexed digital archive.

Myoid hamartoma of breast clinically masquadering as phyllodes tumor- A rare case report

Mammary hamartoma (MH) is an infrequent form of breast tumor that accounts for approximately 4.8% of all benign breast lesions. Myoid (muscular) hamartomas are uncommon benign breast lesions that are considered to be a variant of mammary hamartomas. Since the pathogenesis of MH is poorly understood, its true incidence is under-reported by clinicians and as well as pathologists.Thus, we report this case of MH in a middle-aged female, who presented with a large breast mass mimicking phyllodes tumor and giant fibroadenoma, however, histopathology and immunohistochemical examination aided its diagnosis as Myoid Hamartoma. We present this case to highlight this rare benign breast lesion.

PSEUDOANGIOMATOUS STROMAL HYPERPLASIA,BENIGN PROLIFERATIVE BREAST DISEASE - A RARE CASE DIAGNOSED ON HISTOPATHOLOGY

Introduction: Pseudoangiomatous stromal hyperplasia (PASH) is a benign mesenchymal proliferative lesion of the breast. Case Report: A 25years old female present in surgery department with complain of right breast lump since 2 months. FNAC : Phyllodes tumor USG: Phyllodes tumor, more likely BIRADS category III Discussion: Pseudoangiomatous stromal hyperplasia is a rare but benign breast lesion presenting mostly in premenopausal women. It may be found incidentally in routine biopsy performed in benign or malignant disease of the breast.

Lactating Adenoma in Pregnancy: A Case Report

Background: Lactating adenoma is a rare palpable breast lesion that occurs late in pregnancy or the lactation period and is commonly found in young primiparous women in the second or third decade of life. This case report aims to describe lactating adenoma and its management.&#x0D; Case presentation: A woman, 24 years old, 26 weeks pregnant, came to the Surgical Oncology Polyclinic of Dr. Moewardi Hospital Surakarta with a complaint of a lump in the right breast from the last 4 months. The lump was felt to be getting bigger, painful to the point that sometimes fluid came out of the nipple of her right breast. The patient had a history of previous lumps with a diagnosis of fibroadenoma that had been operated on. On palpation multiple nodules are palpable. Mammography examination showed a mass with partial calcification (BIRADS 3). The patient was diagnosed with a tumur of mammae dextra suspected of malignant cT2N1Mx with G1P0A0 26 weeks gestation. Histopathological examination results showed a lactating adenoma.&#x0D; Conclusion: There are several recommendations for the management of lactating adenoma during pregnancy. An antepartum biopsy is recommended for women with a breast mass in the first or second trimester, postpartum for masses that appear in the late third trimester, and fine-needle aspiration biopsy as an alternative for masses that appear in the early third trimester. Treatment with bromocriptine, a dopamine agonist, may be given to reduce the size of the lactating adenoma.

Fibromatosis of the Breast: Report of a Case with Cytohistological Correlation

Background: Breast fibromatosis is a very rare, locally infiltrative lesion, without metastatic potential that arises from either stromal fibroblasts or myofibroblasts of the breast or from the pectoral fascia, extending into the breast, with its cytological and histological features only rarely being described. Case Presentation: A 58-year-old woman, with no past medical/surgical or family history, was diagnosed on regular mammographic and ultrasound examination with a nodular tumor density, in the upper inner part of her right breast. There were no calcifications or apparent lymph nodes in the right axilla. The woman underwent FNA and US-guided biopsy and final resection biopsy under hook marking. We reviewed the cytological findings of fibromatosis of the breast, as they presented in FNAC aspirates of a non-palpable mammographic finding and the histological findings in both preoperative core-needle biopsy and excision specimen. The final diagnosis was of fibromatosis of the breast. No further actions were taken. The woman is well, without recurrence, more than four years afterwards. Conclusion: Our case can make the pathologists more acquainted with the cytological and pathologic features of a rare tumor entity and the clinicians with a rare breast lesion, which can mimic malignancy both clinically and radiologically. The diagnosis of fibromatosis of the breast is more reliable in excision specimens. Nevertheless, cytology can be an invaluable adjunct to histology, pre-operatively, as it can exclude cancer and help in the preoperative planning.

Giant fibroadenoma mimicking phylloides tumor in post-menopausal female: a case report and review of literature

Giant fibroadenomas are rare breast lesions in elderly women especially post-menopausal women and accounting for 0.5-2% of all cases of fibroadenomas. They pose diagnostic as well as therapeutic challenge because resemblance of its clinical and imaging features with other breast lesions, especially phylloides tumor. We present a rare case of giant fibroadenoma of breast in postmenopausal female of 53 year of age mimicking phylloides tumor. Ultrasonography and fine needle aspiration cytology (FNAC) suggestive of fibroadenoma. Tumor was completely excised and diagnosis of giant fibroadenoma was confirmed by histopathology. Breast conserving surgery is the gold standard treatment.

Breast Fibromatosis, A Rare Benign Tumor Mimicking Breast Carcinoma: A Case Report

Objectives: Fibromatosis is a rare breast lesion that is considered locally aggressive tumor without metastasis. It doesn't need more than surgical excision with clean margins as a treatment but the recurrence is very common. Breast fibromatosis clinically mimics other lesions as fibromatosis like metaplastic tumor of breast. Therefore, recognition of breast fibromatosis is important for surgeons and histopathologists, in order to set a proper plan for management and avoid unnecessary extensive surgery. Comprehensive search revealed only 33 case reports as it's compromising less than 0.2% of all primary breast tumor. Case summary Methods and Materials: A 35 years old female patient complained of palpable left breast mass for four months. Her imaging belonged to BI-RAD (4) assessment category. The pathological examination of the core biopsy showed B3; spindle cell lesion. The patient underwent surgical excision of the mass and the histopathologic assessment revealed an infiltrative uncapsulated lesion composed of proliferated spindle shaped cells (mixed fibroblasts and myofibroblast like cells) arranged in sweeping fascicles with occasional extravasated RBCs. There was no mitosis, necrosis or atypia. There was no associated hyperplasia, atypical hyperplasia, insitu or invasive components. Results: Immunohistochemical studies showed positivity for SMA and B- Catenine and negativity for Pan CK and P63 that confirm our diagnosis. Conclusion: The conclusion of this case report is to stress upon keeping breast fibromatosis in mind as a potential differential diagnosis for fibromatosis like metaplastic carcinoma and other mimics of spindle cell lesions in breast.

GRANULOMATOUS MASTITIS IS NOT ALWAYS TUBERCULAR: ROLE OF FINE NEEDLE ASPIRATION CYTOLOGY IN EVALUATION OF GRANULOMATOUS MASTITIS

INTRODUCTION AND OBJECTIVES:&#x0D; Granulomatous mastitis is rare chronic inflammatory benign breast lesion, which clinically and radiologically resembles carcinoma breast thus creating a diagnostic dilemma. The term granulomatous mastitis includes two broad categories namely specific granulomatous mastitis for which aetiological factors can be defined such as infectious causes like Mycobacterium tuberculosis, blastomycosis, cryptococcosis, histoplasmosis, actinomycosis and filarial infection. Other factors include association with autoimmunue diseases such as Wegner’s granulomatosis and giant cell arteritis and there are other rare causes such as include duct ectasia, foreign body reaction and fat necrosis which also leads to granulomatous lesions of breast.&#x0D; Cytological features of granulomatous mastitis(GM) have not been widely discussed and described in literature, so through this study we have made an attempt to thoroughly discuss cytological spectrum of granulomatous mastitis.&#x0D; MATERIALS AND METHODS:&#x0D; A retrospective study was performed over a period of four years from 2016 to 2019. A total of 465 cases of breast lump reported to cytopathology section out of which 24 cases of GM diagnosed on FNAC were included in our study. Results of Erythrocyte sedimentation rate (ESR) and Mantoux test along with TB-PCR were recorded. FNAC slides were retrieved pertaining to study period.&#x0D; Granulomatous lesions of breast were further categorized broadly into IGM/ NGM, granulomatous mastitis without caseous necrosis and tubercular mastitis where diagnosis were made definite on basis of demonstration of AFB or positive TB-PCR .&#x0D; RESULTS:&#x0D; Patient age ranged from 23 years to 55 years with the mean age of 36.6 years with maximum of patients falling in second decade followed by third decade. Granulomatous lesions were broadly categorized into Idiopathic/ Non specific granulomatous mastitis(11 cases,45.8%), GM with caseous necrosis(8 cases, 33.3%) and tubercular mastitis(5 cases, 20.9%). Histopathology was available in 7 cases(29.2%). TB-PCR was sent in all cases of granulomatous mastitis diagnosed on cytology and was positive in 10 cases(41.7%).&#x0D; CONCLUSION:&#x0D; Idiopathic granulomatous mastitis and tubercular mastitis are rare inflammatory diseases of breast which mimic malignancy clinically and radiologically. FNAC plays important role in diagnosis of granulomatous diseases of breast and also their differentiation from malignant tumors. Tubercular mastitis needs to be differentiated from IGM since treatment options are different in both the cases. Cytopathology plays an important role in differentiationg both the diseases supplemented by radiological and microbiological investigations.&#x0D; The present study thus highlights the importance of FNAC as an infalliable tool in diagnosis of granulomatous mastitis and its differentiation from neoplastic lesions of breast thus avoiding time consuming histopathological work up of cases.

Unusual Changing Calcification Patterns on the Mammogram in a Pure Mucocele-Like Lesion of the Breast: A Case Report

Patient: Female, 39Final Diagnosis: Mucocele-like lesionSymptoms: NoneMedication: —Clinical Procedure: —Specialty: RadiologyObjective:Rare diseaseBackground:Mucocele-like lesions are rare breast lesions composed of mucin filled cysts and extravasated mucin that frequently undergo calcification. The most common radiologic feature of a mucocele-like lesion is mammographic microcalcifications of indeterminate nature. The present report demonstrated unusual fluctuation of calcification number and a changing pattern of calcification morphology on mammography in a benign mucocele-like lesion.Case Report:A 39-year-old female was referred to our breast clinic because of a screening mammography-detected abnormality in her right breast. The magnification mammogram of her right breast revealed approximately 8 cm of multiple adjacent masses accompanying regional coarse heterogeneous microcalcifications in the inner central area, which corresponded to multiple aggregated cystic lesions on sonography. Each cystic lesion had internal echoes of a complex cystic with solid and septated pattern. Although a biopsy was recommended, the patient refused the tissue diagnosis. During the first 12 months, the overall extent of mass and calcifications did not discernably change on magnification mammograms. However, minute focal changes in the calcification number were detected; single coarse calcification disappeared at 6-month follow-up, and new coarse calcification developed at 12-month follow-up. At 24-month follow-up magnification mammogram, coarse calcification overtly increased in number and size, and changed into a large bizarre dystrophic morphology. A pathologic diagnosis of a benign mucocele-like lesion without upgrade to atypia or malignancy was made using ultrasonography-guided vacuum-assisted biopsy and surgical excision.Conclusions:When calcifications accompany cystic masses and chronologically change their morphologic pattern from indeterminate (coarse heterogeneous) to benign (dystrophic), a diagnosis of mucocele-like lesion should be considered.

MON-136 Rare Cause of a Suspicious Breast Lump in a Diabetic Woman: Broaden Your Differentials!

Introduction: Diabetic mastopathy is a rare fibro-inflammatory breast lesion that characteristically presents in premenopausal women with long-standing type 1 diabetes mellitus with multiple microvascular complications. Here we describe a case of diabetic mastopathy to emphasize the close communication between physician, radiologist and pathologist needed to avoid unnecessary repeated interventions in this vulnerable population. Case Report: A 50 year old woman with long standing type 1 diabetes mellitus and end stage renal disease on hemodialysis was referred for screening mammography. Mammography revealed heterogenous breast with architectural distortion in right breast at the 12:00 position. USG also showed a large irregular hypoechoic mass with posterior acoustic shadowing, 5.3 x 1.9 x 2.0 cm at the 12:00 position. BI-RADS Category was 5, interpreted as highly suggestive of malignancy. Ultrasound-guided core needle biopsy was done which revealed lymphocytic ductitis, sclerosing lobulitis with non-proliferative fibrocystic changes. A diagnosis of diabetic mastopathy was made. Subsequent annual mammograms continued to demonstrate the above findings and awareness of this diagnosis has prevented her from undergoing repeated biopsies. Discussion: The pathogenesis is linked to an autoimmune response to abnormal extracellular matrix accumulation secondary to effects of hyperglycemia. It can result in palpable breast masses which are often described as firm, mobile and painless. The US features are generally suspicious for malignancy while mammography may show focal asymmetry. The posterior acoustical shadowing which is secondary to fibrosis is the hallmark as seen in our patient. Core biopsy is generally needed for initial pathological diagnosis but may yield non-diagnostic findings in many cases. The characteristic histopathological features include lymphocytic lobulitis, ductitis, B cell vasculitis and dense keloid-like fibrosis. The differential diagnosis includes inflammatory myofibroblastic tumor, granulomatous mastitis, sclerosing lipogranulomatous response or sclerosing lipogranuloma. Although the above mentioned histopathologic features can be encountered in nondiabetic breast biopsies, epithelioid fibroblasts appear to be unique to the diabetic condition. The correlations between imaging and pathology play an important role in the diagnostic process. While in some cases the pathologist may not be provided with a history of diabetes mellitus, the characteristic fibrosis, sclerosing lobulitis with perilobular and perivascular lymphocytic infiltrates provide clues for an accurate diagnosis. Timely and accurate diagnosis of this rare cause of a breast mass can hopefully help women avoid unnecessary repeat biopsies as well as surgical procedures.

Breast-conserving surgery for pure non-classic lobular carcinoma in situ: A single institution's experience

BackgroundNon-classic lobular carcinoma in situ (NC-LCIS) is a rare pre-cancer breast lesion that warrants excision to exclude invasive disease. In patients pursuing breast-conserving surgery (BCS) for NC-LCIS, the need for wide surgical margins is controversial. We characterized the outcomes of women diagnosed with NC-LCIS at a large, academic medical center. MethodsFemale patients seen at our institution from 2008 to 2018 with pure NC-LCIS were retrospectively identified. Patients were excluded if NC-LCIS was diagnosed in the background of invasive cancer or ductal carcinoma in situ. Clinicopathologic and follow-up data were collected. Rates of upstage, re-excision, and recurrence were calculated. ResultsWe identified 26 patients with pure NC-LCIS diagnosed on biopsy. 80.8% of patients initially pursued breast conservation, while 19.2% underwent mastectomy. At definitive surgery, 11.5% were upstaged. Among 19 non-upstaged patients that underwent BCS, 47.4% had at least one re-excision and 26.3% converted to mastectomy. In patients receiving BCS without completion mastectomy, 64.3% had final surgical margins that were negative for NC-LCIS, while 35.7% had positive or close margins. No recurrences in patients with negative margins were observed. One patient with positive margins developed a recurrence 8.3 years post-surgery, and one patient with close margins did 2.2 years post-surgery. All non-upstaged patients were alive at time of analysis with no evidence of invasive disease. ConclusionWe presented the outcomes of one of the largest series of pure NC-LCIS. In patients with NC-LCIS pursuing breast conservation, re-excisions and completion mastectomies were common. However, when negative margins were achieved, prognosis was excellent.

Microglandular adenosis is an advanced precursor breast lesion with evidence of molecular progression to matrix-producing metaplastic carcinoma

Microglandular adenosis (MGA) is a rare breast lesion reported to be associated with invasive carcinoma in up to 20% to 30% of cases and has been proposed as a nonobligate precursor to basal-like breast cancers. We identified a case of matrix-producing metaplastic carcinoma with morphologic and immunohistochemical evidence of progression from MGA to atypical MGA, carcinoma in situ, and invasive carcinoma. We performed whole-exome sequencing of each component (MGA, atypical MGA, carcinoma in situ, and cancer) to characterize the mutational landscape of these foci. There was a significant copy number overlap between all foci, including a segmental amplification of the CCND1 locus (partial chromosome 11 trisomy) and MYC (8q24.12-13). Using a bioinformatics approach, we were able to identify 3 putative mutational clusters and recurrent, stop-gain nonsynonymous mutations in both ZNF862 and TP53 that were shared across all foci. Finally, we identified a novel deleterious splice-acceptor site mutation of chr5:5186164 G>T (chromosome 5p15) encoding the gene, ADAMTS16, in the invasive component.

Clinical, mammographic, and ultrasonographic characteristics of diabetic mastopathy: A case series

PurposeDiabetic mastopathy (DMP) is a rare benign breast lesion that mimics breast cancer on ultrasound. Our aims were to identify patient characteristics and imaging features of the disease. MethodsWe conducted retrospective searches of our database for DMP lesions that were pathologically confirmed between January 2004 and November 2015. Mammographic and ultrasound features were reviewed by two experienced radiologists. ResultsTwelve women were identified with 16 lesions. Most patients (83%) had type 2 diabetes mellitus (DM) and over half were insulin-dependent (58.3%), with a mean time of 16.9 years between the diagnosis of DM and that of DMP. There were negative findings on mammography for 46.7% of the lesions, including larger-sized lesions. Ultrasound revealed various features, including irregular shape (81.3%), indistinct margins (100%), parallel orientation to the chest wall (93.8%), marked hypoechogenicity (87.5%), and posterior shadowing (62.5%). ConclusionsDMP was more common in patients with longstanding DM; in particular, type 2 DM and insulin-dependent patients. DMP lesions were usually occult on mammography, despite the relatively large size of DMP, which may help distinguish DMP from invasive cancer. Ultrasound detected several features that are also present in invasive cancer, making tissue sampling necessary to distinguish these.

Pseudoangiomatous Stromal Hyperplasia (PASH) of the Breast

Pseudoangiomatous Stromal Hyperplasia (PASH) is one of the rare benign breast lesions. It typically occurs in women of reproductive age however it is reported in postmenopausal women under hormonal therapy. PASH is frequently incidental finding in breast biopsies but it may also manifest as palpable mass. We report a case of PASH which correlates with radiological and pathological findings. The knowledge of this rare lesion may be of importance to surgeons & radiologists for proper adequate management.