Mammary hamartomas: an immunohistochemical study of ten cases.

Ten cases of breast hamartomas were reviewed; the patients' age ranged from 31 to 55 (mean 40.4, median 39). All cases presented with a palpable, sometimes tender, lump. The typical mammographic feature was a well defined, round to lens shaped, variable dense mass, occasionally surrounded by a thin radiolucent zone. All hamartomas were unilateral (4 in the right and 6 in the left breast, respectively) and no recurrence occurred after local excision. The tumor size ranged from 5 to 150 mm (mean 54 mm). Histologically all hamartomas were composed of a typical fibrous, adipose and glandular tissue combination. Immunohistochemically there was a strong positivity for cytokeratin and epithelial membrane antigen in the epithelial cells, a positive finding for vimentin and muscle-specific actin in stromal and myoepithelial cells, and for S-100 protein in myoepithelial cells. Vessels endothelial cells were immunoreactive for Factor VIII. Immunohistochemical analysis of hormone receptors completed on formaldehyde-fixed paraffin-embedded specimens, showed estrogen and progesterone receptors positivity in 9 cases and estrogen positive progesterone negative receptors in one case. In all cases the receptorial positivity was limited to the epithelial elements. These data revealed that 1) breast hamartoma is a benign, tumor-like lesion, histologically dissimilar from other lesions such as fibroadenoma and pseudoangiomatous hyperplasia; and 2) hamartoma tissue is influenced by hormones like the surrounding normal breast parenchyma.     

Lobular carcinoma in a mammary hamartoma.

Mammary hamartomas are uncommon breast lesions, sometimes presenting as mammographic abnormalities which require pathological clarification. Previous cases have all been benign. A unique case of mammary hamartoma containing atypical lobular hyperplasia (ALH), lobular carcinoma in situ (LCIS), and foci of microinvasive lobular carcinoma is presented. The need for adequately sampling macroscopically innocuous breast lesions is emphasised.     

Sclerosing lobular hyperplasia of the breast: fine-needle aspiration cytology findings--a case report

Sclerosing lobular hyperplasia (SLH) is an uncommon benign lesion seen in the juvenile breast. It presents as a palpable, firm, circumscribed nodular lump in the breast of a young woman. Histologically, it is characterised by prominent lobular hyperplasia and sclerosis of the intralobular connective tissue. We discuss the cytomorphology and differential diagnosis. A 16-yr-old female patient presented with a painless, firm, nodular, mobile mass in the right breast measuring 4 x 4 cm. The clinical and radiological diagnosis was fibroadenoma. Fine-needle aspiration smears showed round to oval ductal epithelial cells in flat sheets and round clusters with an acinar arrangement. A few bare nuclei were seen dispersed in a clean background but no stroma was visualised. A combination of clinical findings, imaging, and cytological features of SLH can help to differentiate this condition from other palpable juvenile breast diseases.     

Irregular connexin43 expressed in a rare cardiac hamartoma containing adipose tissue in the crista terminalis

Cardiac hamartomas are very rare and are demarcated masses of enlarged, hypertrophied, mature myocytes and collagen tissue. Cardiac hamartomas are generally circumscribed in the right ventricle or atrium, but not reported in the crista terminalis (CRT). The CRT is crucial in electrophysiology, is related to arrhythmogenesis, and is targeted by radiofrequency catheter procedures. Previous works only described the benign natures of prominent CRT using non-invasive methods. This study describes an unusual cardiac hamartoma originating from the CRT and extending toward the tricuspid valve. Microscopically, this hamartoma comprised dense collagen and adipose tissue, mixed with hypertrophy, but with disarrayed cardiomyocytes. An irregular gap junction, connexin43, was demonstrated in this cardiac hamartoma.     

Lineage-restricted clonality in biphasic solid tumors.

Cytogenetic analysis of two pulmonary chondroid hamartomas and nine breast adenofibromas revealed clonal chromosome aberrations in both hamartomas and in four breast tumors. To determine lineage of the cells with chromosome aberrations, a combined immunohistochemical/cytogenetic approach was developed that enabled simultaneous ascertainment of cytogenetic aberrations and immunohistochemical features in individual cells. Immunohistochemical/cytogenetic evaluation of one hamartoma and two adenofibromas demonstrated that neoplastic proliferation, in each case, was confined to the mesenchymal (stromal) component, whereas epithelial cells appeared to be reactive. Cytogenetically abnormal short-term cultures of the remaining hamartoma and another of the breast adenofibromas were composed entirely of mesenchymal elements, indicating mesenchymal clonality in those tumors as well. Our findings support redesignation of pulmonary chondroid hamartomas as 'pulmonary chondromas' and suggest that carcinomas developing within fibroadenomas arise from reactive epithelial proliferation. Combined immunohistochemical/cytogenetic analysis might be useful in the development of novel therapeutic approaches that selectively target neoplastic populations within solid tumors.     

成人IgG4相关性颌下腺疾病的超声表现

目的 分析及归纳IgG4相关性颌下腺疾病的超声影像特征.方法 回顾性分析19例22灶IgG4相关性颌下腺疾病的超声表现,包括颌下腺尺寸、形态、病变范围、内部回声、血流、周围淋巴结.结果 19例22灶IgG4相关性颌下腺疾病的超声表现可分为局限性结节样改变、弥漫性结节样改变、类肿瘤样改变3种类型.局限性结节样改变(2例2灶),病侧腺体的浅侧、被膜下显示不均匀增粗的低回声区,内见条状强回声,血流偏多.弥漫性结节样改变(11例12灶),病侧腺体呈网格状或蜂窝状,具体表现为腺体回声增强、增粗、不均匀、血流丰富,内见弥漫、散在、大小不一的结节样低回声,其周围显示条状强回声.类肿瘤样改变(7例8灶),病侧腺体表现为回声不均匀减低、增粗,内夹杂多发条状强回声,并显示放射状丰富血流.结论 超声检查可作为IgG4相关性颌下腺疾病首选的影像学检查方法.该病超声影像呈局限性结节样改变、弥漫性结节样改变、类肿瘤样改变3种类型.当怀疑患IgG4相关性颌下腺疾病时,应进一步检查IgG4相关性疾病常累及的组织和器官,同时进行超声引导下穿刺活检明确诊断.     

A methodology for evaluation of boundary detection algorithms on breast ultrasound images

Image segmentation is the partition of an image into a set of non-overlapping regions that comprise the entire image. The image is decomposed into meaningful parts, which are uniform with respect to certain characteristics, such as grey level or texture. This study presents a novel methodology to evaluate ultrasound image segmentation algorithms. The sonographic features can differentiate between various sized malignant and benign breast tumours. The clinical experiment can determine whether a tumour is benign or not, based on contour, shape, echogenicity and echo texture. Further study of the standardized sonographic features, especially the tumour contour and shape, will improve the positive predictive value and accuracy rate in breast tumour detection. The effectiveness of using this methodology is illustrated by evaluating image segmentation on breast ultrasound images. Via definite segmentation, the appreciated tumour shape and contour can be ascertained. Furthermore, this method can enhance the ability of ultrasound to distinguish between benign and malignant breast lesions.     

Boundary modelling and shape analysis methods for classification of mammographic masses

The problem of computer-aided classification of benign and malignant breast masses using shape features is addressed. The aim of the study is to look at the exceptions in shapes of masses such as circumscribed malignant tumours and spiculated benign masses which are difficult to classify correctly using common shape analysis methods. The proposed methods of shape analysis treat the object's boundary in terms of local details. The boundaries of masses analysed using the proposed methods were manually drawn on mammographic images by an expert radiologist (JELD). A boundary segmentation method is used to separate major portions of the boundary and to label them as concave or convex segments. To analyse the shape information localised in each segment, features are computed through an iterative procedure for polygonal modelling of the mass boundaries. Features are based on the concavity fraction of a mass boundary and the degree of narrowness of spicules as characterised by a spiculation index. Two features comprising spiculation index (SI) and fractional concavity (f_cc) developed in the present study when used in combination with the global shape feature of compactness resulted in a benign/malignant classification accuracy of 82%, with an area (A_z) of 0.79 under the receiver operating characteristics (ROC) curve with a database of the boundaries of 28 benign masses and 26 malignant tumours. SI alone resulted in a classification accuracy of 80% with A_z of 0.82. The combination of all the three features achieved 91% accuracy of circumscribed versus spiculated classification of masses based on shape.     

Breast hamartoma: a clinicopathologic analysis of 27 cases and a literature review

OBJECTIVES:

Breast hamartoma is an uncommon breast tumor that accounts for approximately 4.8% of all benign breast masses. The pathogenesis is still poorly understood and breast hamartoma is not a well-known disorder, so its diagnosis is underestimated by clinicians and pathologists. This study was designed to present our experience with breast hamartoma, along with a literature review.

METHOD:

We reviewed the demographic data, pathologic analyses and imaging and results of patients diagnosed with breast hamartoma between December 2003 and September 2013.

RESULTS:

In total, 27 cases of breast hamartoma operated in the Ankara University Medicine Faculty''s Department of General Surgery were included in the study. All patients were female and the mean age was 41.8±10.8 years. The mean tumor size was 3.9±2.7 cm. Breast ultrasound was performed on all patients before surgery. The most common additional lesion was epithelial hyperplasia (22.2%). Furthermore, lobular carcinoma in situ was identified in one case and invasive ductal carcinoma was observed in another case. Immunohistochemical staining revealed myoid hamartoma in one case (3.7%).

CONCLUSION:

Breast hamartomas are rare benign lesions that may be underdiagnosed because of the categorization of hamartomas as fibroadenomas by pathologists. Pathologic examinations can show variability from one case to another. Thus, the true incidence may be higher than the literature indicates.     

Secondary non-Hodgkin's B-cell lymphoma involving the breast: radiologic imaging

Secondary lymphomas involving the breast, although uncommon, represent the largest group of metastasic tumors to the breast. Primary non-Hodgkin lymphomas (NHLs) of the breast are also rare, accounting for 1.7% to 2.2% of extranodal NHL cases and 0.38 to 0.7% of all NHLs. Approximately 300 cases have been reported in the Medical literature. Mammographic appearances are described as round or oval areas of opacity. The breast mass may appear homogeneous or inhomogeneous. The lesion may be very well defined and may be mistaken for a benign process, most notable in patients younger than 35 years of age. Ultrasonographic appearance is described as a sharply defined mass with low or medium echoes. The posterior aspect of the mass is well defined (possibly with slight acoustic enhancement but with no associated posterior shadowing). In summary, the mammographic appearance of the breast lymphoma is nonspecific, but the diagnosis can possibly be excluded if calcifications or a desmoplastic reaction are present. Prominent lymph vessels in a patient with a breast mass should raise the suspicion of breast lymphoma. The most critical aspect in the workup of a breast mass is the tissue biopsy, since radiographically lymphomatous lesions are indeterminate. We present the case of a 79-year-old woman with abdominal pain and a palpable breast mass; we also make a brief summary of the clinical features and main imaging findings of NHL (plain radiograph, mammography, breast ultrasound and thorax tomography).     

Myoepithelial hamartoma of the duodenal wall

 A rare case of myoepithelial hamartoma of the duodenal wall is presented, and previous case reports found in the literature are reviewed. Myoepithelial hamartomas are thought to arise from displaced pancreatic anlage present along the gastrointestinal tract during embryogenesis, which can differentiate into various pancreatic elements; the most highly differentiated form is heterotopic pancreas. An alternative theory is pancreatic metaplasia of endodermal tissues. We describe a 41-year-old man who presented with abdominal pain and vomiting. CT scanning revealed a mass at the head of the pancreas. A pancreaticoduodenectomy was performed for presumed cystadenoma. Histology of the mass revealed a disorderly arrangement of smooth muscle, dilated and nondilated ducts, pancreatic acinar tissue and mucus glands. The relationship of myoepithelial hamartomas involving the small bowel to similar lesions in the stomach, bile ducts and gallbladder is discussed. Received: 16 June 1997 / Accepted: 7 October 1997     

Loss of heterozygosity in tuberous sclerosis hamartomas.

We have previously described in tuberous sclerosis (TSC) hamartomas the phenomenon of loss of heterozygosity (LOH) for DNA markers in the region of both the TSC2 gene on chromosome 16p13.3 and the TSC1 gene on 9q34. We now describe the spectrum of LOH in 51 TSC hamartomas from 34 cases of TSC. DNA was extracted from leucocytes or normal paraffin embedded tissue, and from frozen paraffin embedded hamartoma tissue from the same patient. The samples were analysed for 11 markers spanning the TSC1 locus and nine markers spanning the TSC2 locus. Twenty-one of 51 hamartomas showed LOH (41%). There was significantly more LOH on 16p13.3, with 16 hamartomas showing LOH around TSC2, and five in the vicinity of TSC1. No hamartoma showed LOH for markers around both loci. All the areas of LOH on chromosome 9 were large, but the smallest region of overlap lay between the markers D9S149 and D9S114, providing independent evidence for the localisation of the TSC1 gene. These data show that LOH is a common finding in a wide range of hamartomas, affecting the same TSC locus in different lesions from the same patient but not affecting both loci. These data support the hypothesis that both the TSC genes act as tumour suppressors and that the manifestations of TSC in patients with germline TSC mutations rise from "second hit" somatic mutations inactivating the remaining normal copy of the TSC gene.     

Pontine neurocytoma.

A case of neurocytoma arising in the rostral pontine region of an 18 year old man is reported. The patient developed a right trochlear nerve palsy and was shown to have a well circumscribed, contrast enhancing mass on magnetic resonance imaging. The tumour was characterised histologically by a uniform population of medium sized round nuclei and slightly eosinophilic cytoplasm or occasional perinuclear halos, with delicate branching capillaries, patches of fibrillary matrix, and occasional perivascular pseudorosettes. Immunohistochemical studies demonstrated strong reactivity for synaptophysin in the fibrillary processes and cytoplasm of tumour cells. The present tumour is an exceptional case of neurocytoma arising in the pons.     

The First Case of HER2+ Invasive Ductal Carcinoma Arising From a Breast Hamartoma and Literature Review

Carcinomas arising from breast hamartomas are exceedingly rare. We present the first reported case of an African-American female presenting with a right breast lump and a subsequent mammogram suggestive of a hamartoma. She later underwent lumpectomy and was found to have HER2+ invasive ductal carcinoma (IDC) arising from a hamartoma. She was amenable to HER2-targeted trastuzumab, hormone therapy and adjuvant radiation but declined chemotherapy. In a review of the literature, IDC is the predominant neoplastic type found in hamartomas. The average hamartoma size at time of neoplasm diagnosis is 6.0 cm. Patients with hamartomas greater than 6.0 cm, with changes in calcification pattern; new nodules or asymmetry should be considered for additional evaluation with ultrasound, MRI and/or biopsy. HER2 status is under-reported among cases and should be evaluated in any malignancy found within hamartomas as HER-2 therapy has improved overall survival and recurrence free survival in HER2+breast cancer patients.     

A Comprehensive Methodology for Determining the Most Informative Mammographic Features

This study aims to determine the most informative mammographic features for breast cancer diagnosis using mutual information (MI) analysis. Our Health Insurance Portability and Accountability Act-approved database consists of 44,397 consecutive structured mammography reports for 20,375 patients collected from 2005 to 2008. The reports include demographic risk factors (age, family and personal history of breast cancer, and use of hormone therapy) and mammographic features from the Breast Imaging Reporting and Data System lexicon. We calculated MI using Shannon’s entropy measure for each feature with respect to the outcome (benign/malignant using a cancer registry match as reference standard). In order to evaluate the validity of the MI rankings of features, we trained and tested naïve Bayes classifiers on the feature with tenfold cross-validation, and measured the predictive ability using area under the ROC curve (AUC). We used a bootstrapping approach to assess the distributional properties of our estimates, and the DeLong method to compare AUC. Based on MI, we found that mass margins and mass shape were the most informative features for breast cancer diagnosis. Calcification morphology, mass density, and calcification distribution provided predictive information for distinguishing benign and malignant breast findings. Breast composition, associated findings, and special cases provided little information in this task. We also found that the rankings of mammographic features with MI and AUC were generally consistent. MI analysis provides a framework to determine the value of different mammographic features in the pursuit of optimal (i.e., accurate and efficient) breast cancer diagnosis.     

Nodular mucinosis of the breast: a case report with pathologic, ultrasonographic, and clinical findings and review of the literature

Nodular mucinosis is an extremely rare breast lesion. This benign mass usually presents clinically as a poorly circumscribed, subareolar, myxoid mass in young female patients. We report a case of this rare breast lesion and discuss its clinical, radiologic, and histopathologic features. A 21-year-old white woman presented with a mass in the left breast of 6 months' duration. She had never been pregnant or had any history of breast feeding, surgery, trauma, or use of exogenous hormones or a family history of breast cancer. Clinical breast examination demonstrated a 1 cm "rubbery" mass directly under and continuous with the left nipple. The skin that covered the mass had an edematous and irregular appearance without erythema or drainage from the nipple. Ultrasonography demonstrated a 1-cm, nonintraductal, circumscribed, homogeneous, isoechoic mass that was continuous or part of the base of the left nipple. The mass was smooth, with a thin echogenic rim. Doppler flow showed some vascularity. These findings suggested a benign breast lesion, including a fibroadenoma or nipple adenoma. Despite reassurance, the patient desired excision of the lesion. Gross examination revealed a nodular, rubbery-firm, ovoid, pink, polypoid mass that measured 1.5 x 0.9 x 0.8 cm. Microscopic examination showed a well-circumscribed tumor with a nodular appearance, which consisted of an accumulation of pink myxoid tissue and contained spindle cells with bland-appearing nuclei, no mitosis, and mild cellularity. The pink myxoid tissue was stained with Hale colloidal iron and Alcian blue. The Alcian blue stain was removed by pretreatment with hyaluronidase. The spindle cells stained with vimentin and smooth muscle actin; however, they did not express smooth muscle myosin or cytokeratin. This report presents and discusses the pathologic, ultrasonographic, and clinical findings of this rare entity.     

Level Set Contouring for Breast Tumor in Sonography

The echogenicity, echotexture, shape, and contour of a lesion are revealed to be effective sonographic features for physicians to identify a tumor as either benign or malignant. Automatic contouring for breast tumors in sonography may assist physicians without relevant experience, in making correct diagnoses. This study develops an efficient method for automatically detecting contours of breast tumors in sonography. First, a sophisticated preprocessing filter reduces the noise, but preserves the shape and contrast of the breast tumor. An adaptive initial contouring method is then performed to obtain an approximate circular contour of the tumor. Finally, the deformation-based level set segmentation automatically extracts the precise contours of breast tumors from ultrasound (US) images. The proposed contouring method evaluates US images from 118 patients with breast tumors. The contouring results, obtained with computer simulation, reveal that the proposed method always identifies similar contours to those obtained with manual sketching. The proposed method provides robust and fast automatic contouring for breast US images. The potential role of this approach might save much of the time required to sketch a precise contour with very high stability.     

胃肠道间叶组织源性肿瘤的超声诊断价值分析

目的探讨超声检查对胃肠道间叶组织源性肿瘤的诊断价值。方法25例经手术病理证实的胃肠道间叶组织源性肿瘤患者．其中男性9例,女性16例;年龄29～80岁．平均年龄57-2岁。回顾性分析其超声表现,并对超声诊断结果与病理诊断结果进行对比分析。结果间质瘤呈圆形或椭圆形,形态规整,边界清楚,内呈均匀低回声,血液运行不丰富;较大者形态不规整．内部回声不均并可见液性区,血液运行丰富。平滑肌瘤呈椭圆形或分叶状,形态规整,边界清楚,呈均匀低回声．肿瘤部位消化道壁结构完整。平滑肌肉瘤瘤体较大,形态不规整,边界不清楚,呈不均匀低回声;有坏死出血时声像图可见液性暗区。神经鞘瘤呈球状,形态规整,边界清楚,由黏膜下层向胃腔外生长,肿物部位黏膜连续完整。经手术病理确诊的25例胃肠道间叶组织源性肿瘤超声检出率为100％．定位诊断准确率为84％．超声定性诊断准确率为68％。结论超声检查对胃肠道间叶组织源性肿瘤的诊断有较大临床应用价值。     

Perkutane Brustdrüsenstanzbiopsie

Percutaneous large core biopsy of the breast with a 14-gauge needle, supported by sonographic and mammographic procedures, shows a high degree of safety during the collection for benign and malignant lesions. All malignant diagnoses (B 5) with a portion of 44% (267/604) were confirmed surgically, whereby the typing with 79% and grading with 58% were congruent. In 3.3% (20/604), there was uncertainty (B 3 and B 4), with the necessity for further clarification by open biopsy. This was supported by the fact that in 10/16 operated cases carcinoma was found. In the B 2-category, with a portion of nearly 44% (264/604), four cases of cancer were verified--not due to a wrongly negative histology but to non-representative material. In 8.8% (53/604), a questionable representative histology (B 1) occurred, but no cancer was found after surgical intervention (n=7). The indication for surgery is not only the punch biopsy result, but additionally negative histology and suspect or malignant clinical findings.