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Background : Breast cancer is the most common malignancy in women and thought to be hereditary in 10% of patients. Recent next-generation sequencing (NGS) studies have increased the detection of pathogenic or likely pathogenic variants in genes other than BRCA1/2 in breast cancer patients. This study evaluated pathogenic variants, likely pathogenic variants, and variants of unknown significance (VUS) in 18 hereditary cancer susceptibility genes in BRCA1/2-negative breast cancer patients. Patients and Methods : This retrospective study included 188 high-risk BRCA1/2-negative breast cancer patients tested with a multi-gene cancer panel using NGS. Results : Among 188 proband cases, 18 variants in 21 patients (11.1%) were classified as pathogenic (P) or likely pathogenic (LP) in PALB2 (໿n = 6),໿ CHEK2 (n = 5), MUTYH (n = 4), ATM (n = 3), TP53 (n = 2), BRIP1 (n = 1) and MSH2 (n = 1). Three novel P/LP variants were identified. An additional 28 variants were classified as VUS and detected in 30 (15.9%) different patients. Conclusion : This is one of the largest study from Turkey to investigate the mutation spectrum in non-BRCA hereditary breast cancer susceptibility genes. A multi-gene panel test increased the likelihood of identifying a molecular diagnosis in BRCA 1/2-negative breast cancer patients at risk for a hereditary breast cancer syndrome. More studies are needed to enable the clinical interpretation of these P/LP variants in hereditary breast cancer patients. Next-generation sequencing (NGS) studies have increased the detection of pathogenic or likely pathogenic variants in genes other than BRCA1/2 in breast cancer patients. This study included 188 high-risk BRCA1/2-negative breast cancer patients tested with a multi-gene cancer panel using NGS. Among 188 proband cases, 18 variants in 21 patients (11.1%) were classified as pathogenic (P) or likely pathogenic (LP). A multi-gene panel increased the diagnosis success in BRCA1/2-negative high-risk breast cancer patients.

Purpose To determine the frequency by which breast magnetic resonance imaging (MRI) provides information that influences the surgical management of patients with breast cancer. Materials and methods From August 2006 to December 2008, contrast-enhanced bilateral breast MRI was performed on 68 patients, all of whom exhibited highly suspicious imaging findings (BI-RADS category 4 or 5). Patients were grouped according to their histopathological diagnosis and type of breast parenchyma. All of the enrolled patients were believed to be candidates for breast conservation on the basis of physical examination, mammography, and ultrasonography. The patients were reevaluated with the MRI examination as to whether they were still candidates for breast conservation therapy. Results The MRI findings changed the previous management plans in 19.1% of the 68 patients. With respect to the surgical approach, no statistically significant difference was observed between the histopathology groups (P = 0.403). In terms of the breast parenchymal pattern, however, surgical planning was changed in 53.8% of the patients who exhibited a dense pattern, which was significantly different from the rates of the other groups (P = 0.006). The sensitivity, specificity, positive predictive value, and negative predictive value of the MRI for additional malignant lesion detection and identification were 85%, 98%, 92%, and 96%, respectively. The agreement test revealed 86% agreement (very good) between the additional findings observed on the MRI and the histopathological results. Conclusion If breast-conserving surgery is planned, an MRI should be performed in all women with suspected breast cancer, especially those exhibiting dense or heterogeneously dense breast parenchyma, for which the sensitivity of both ultrasonography and mammography is low.

Purpose To evaluate the mammographic findings of the sternalis muscle and discuss appropriate diagnostic approaches. Materials and methods Ten years of records from our mammography unit were retrospectively examined for the presence of the sternalis muscle. This variant was seen in 10 women out of the 52,930 examined, and the mammograms of these patients were reevaluated. The size, shape and contours of the muscle were reviewed on the craniocaudal (CC) and mediolateral oblique (MLO) views. Yearly mammograms were assessed to evaluate follow-up changes. Extra examinations were reviewed, including ultrasound (US), computed tomography (CT) and magnetic resonance imaging (MRI). Results The prevalence of the sternalis muscle was 0.018%. Its contours were well-defined, irregular or spiculated, and the diameter ranged from 3-4 mm to 15 mm. The shape of the muscle varied from slightly bulging to round or triangular. The muscle was detected on MLO projections in three patients as an inferior soft tissue density at the posterior edge of the breast, continuous with the pectoralis muscle. Distinct pulling of the breast led to variations in the appearance of the muscle on yearly mammograms. US examinations were normal in all patients. CT and MRI showed the muscle clearly. Conclusion The appearance of the sternalis muscle may vary on CC views. It may also be detected on MLO projections. The ability to visualize the muscle depends on proper positioning. Knowledge of its detectability on mammograms will prevent the misdiagnosis of a mass and prevent further unnecessary investigations.

Objective Stresses including surgery, exercise, nipple stimulation, and chest wall injury such as mechanical trauma, burns, surgery, herpes zoster of thoracic dermatomes, hypoglycaemia and acute myocardial infarction cause significant elevation of prolactin levels. The aim of the present study was to evaluate the changes in prolactin level during mammography and ultrasonographic examination. Materials and Methods: Seventy-four premenopausal (mean age, 32.1±7.3 y) and 81 post-menopausal women (mean age, 48.3±8.9 y) were enrolled into the study. Premenopausal women were evaluated with ultrasound (Senographe 600 T [General Electric]) and post-menopausal women were examined with mammography (Mammomat 3000 [Siemens]). Blood samples for prolactin were taken prior to ultrasound or mammography and 15, 30 and 45 min after ultrasound or mammography. Results: Mean baseline serum prolactin level was 7.2±0.9 ng/ml in premenopausal women before ultrasound. Mean baseline serum prolactin level was 5.4±0.4 ng/ml in post-menopausal women before mammography. It was found that there were no significant changes in prolactin levels after ultrasound or mammography (P>0.05). Mean levels of baseline prolactin were statistically significant higher in premenopausal than in post-menopausal women (P=0.03). Conclusion: Mammography and ultrasonographic examination have no acute effect on serum prolactin levels in either group. There is no need to wait before measuring the prolactin level after mammographic or ultrasonographic breast examination.

Hearing can be restored by cochlear implantation in patients with sensorineural hearing loss, who have a normal seventh cranial nerve. The aim of imaging in cochlear implant candidates is to determine the etiology of the hearing loss, congenital malformations and variations that may cause difficulty during the operation, patency of the cochlea and the presence of the seventh, cranial nerve. The aim of this study is to review the literature and to discuss the imaging findings that may affect the type and success of the operation.33 cochlear implant candidates, who underwent high resolution computed tomography, were included in the study. High resolution fast spin echo T2 weighted and constructive interference in steady state sequences were performed in 23 patients with a 1.5 Tesla magnetic resonance unit.Computed tomography and magnetic resonance imaging were normal in 16 patients. Unilateral or bilateral labyrinthine ossification was detected in 4 patients. Variations of the temporal bone, congenital malformations, sequelae of chronic otitis and trauma were detected in 13 patients. Cochlear implantation was performed in 5 patients. Operative difficulty, complications and postoperative outcome were noted in these 5 patients.High resolution computed tomography and magnetic resonance images obtained by high resolution T2 weighted fast spin echo sequence and constructive interference in steady state sequence help the surgeon in planning the operation and predict potential complications in cochlear implant candidates.

OBJECTIVE: The purpose of this study is to evaluate the mammographic and ultrasonographic characteristics of granulomatous mastitis and to correlate the imaging features with the histologic findings. MATERIALS AND METHODS: 15 patients with diagnosis of idiopathic granulomatous mastitis were examined with mammography and ultrasonography. The clinical, pathologic and imaging features were retrospectively reviewed and correlated in all patients. RESULTS: Mammographic examination showed an asymmetric density with no distinct margins in 8 patients and an ill-defined mass in 3 patients. In 4 cases, no abnormal finding was detected on the mammography. Sonographic examination demonstrated an irregular mass with tubular connections in 5 patients, single or multiple hypoechoic tubular/nodular structures in 6, and focally or segmentally decreased parenchymal echogenity with acoustic shadowing in 4 patients. The imaging findings suggested a malignant tumor in 7 patients, while an inflammatory process or intraductal papilloma was considered in the differential diagnosis of the other patients. CONCLUSION: Granulomatous mastitis usually presents with clinical findings mimicking a carcinoma. The most common mammographic appearance of the lesion is an asymmetrically increased density, which is not characteristic for this entity. Sonographic patterns of the disease are varied and appear to relate to the histologic features. Findings include a mass-like appearance, tubular/nodular hypoechoic structures and focal decreased parenchmal echogenicity with acoustic shadowing. With awareness of the findings granulomatous mastitis can be considered in the differential diagnosis. Memis, A. et al. (2002). Clinical Radiology , 57, 1001–1006.

Objective: To determine the degree of change in mammographic breast densities during different types of postmenopausal hormone replacement therapies. Design: A retrospective study. Setting: Ege University Hospital. Patient(s): The mammographies of 216 women on various postmenopausal hormone replacement therapies were evaluated. Intervention(s): Estrogen alone (n = 76) or estrogen in cyclic (n = 44) or continuous (n = 61) combination with progestin or tibolone-only (n = 35) replacement therapies were used. Mammographic density was quantified according to the Wolfe classification in patients with different hormone replacement regimens. Main Outcome Measure(s): Mammographic density changes were interpreted. Result(s): An increase in mammographic density was much more common among women receiving continuous combination hormone replacement therapy 31.1% (19 of 61) than among those receiving estrogen-only 3.9% (3 of 76) treatment. There were no significant mammographic breast density changes among women receiving cyclic continuous combination hormone replacement therapy or tibolone-only treatment. The increase in density was apparent already at first visit after the start of hormone replacement therapy. In continuous combined postmenopausal hormone replacement therapy with norethisterone acetate, the increase in mammographic density was 34.1% (15 of 44), followed by medroxyprogesterone acetate 23.5% (4 of 17). Conclusion(s): Our findings show that mammographic breast density changes related to postmenopausal hormone replacement therapy are dependent on the selected hormone regimen. The continuous administration of the progestin component of the combined-hormone replacement therapy seems to effect the breast density most.

Objective: the purpose of this study was to describe and quantitate the clinical, mammographic and sonographic (US) features and to evaluate the evolution of fat necrosis in the breast. Materials and methods: a retrospective review of the clinical, mammographic and US findings of 126 fat necrosis lesions in 94 patients, diagnosed between 1989 and 1999, was done. All the cases included in the study had at least 3 years follow-up mammograms. In addition, 48 patients with a total of 62 fat necrosis lesions, also had an US follow-up. Fat necrosis was diagnosed on the basis of histologic ( n =25) and initial or follow-up imaging ( n =69) findings. Results: the predominant mammographic features of the 114 lesions apparent on mammograms were radiolucent oil cyst ( n =34, 26.9%), round opacity ( n =16, 12.6%), asymmetrical opacity or heterogenicity of the subcutaneous tissues ( n =20, 15.8%), dystrophic calcifications ( n =34, 26.9%), clustered pleomorphic microcalcifications ( n =5, 3.9%), and suspicious speculated mass ( n =5, 3.9%). In five patients with 12 (9.5%) palpable masses, mammograms were normal. The predominant US features of the 112 lesions apparent on sonograms were solid ( n =18, 14.2%), anechoic with posterior acoustic enhancement ( n =21, 16.6%), anechoic with posterior acoustic shadowing ( n =20, 15.8%), cystic with internal echoes ( n =14, 11.1%), cystic with mural nodule ( n =5, 3.9%) and increased echogenicity of the subcutaneous tissues ( n =34, 26.9%). In five patients with 14 (11.1%) lesions, sonographic examination was normal. Mammographic follow-up showed that five of the radiolucent oil cysts developed curvilinear calcifications, six of the round opacities decreased in size and density, and another two disappeared. Eleven of the dystrophic calcifications became even more coarse. Six of the asymmetrical opacities became vague and one developed an oil cyst and coarse calcifications. The only nonoperated speculated mass developed a typical small radiolucent oil cyst in the centre. US follow-up showed that 18 of the 29 increased subcutaneous tissue echogenicity turned back to normal, while in the remaining 11 small cysts formed. In 19 solid appearing masses, 15 showed decrease in size, while four remained stable (biopsy disclosed fat necrosis). The four complex masses in two patients showed increase in size and appeared more cystic (FNAB was consistent with fat necrosis). Conclusion: a spectrum of imaging findings is associated with fat necrosis. Knowledge of the mammographic and US appearance and evolution of these patterns may enable imaging follow-up of these lesions, reducing the number of unnecessary biopsies.

Hydatid disease of the soft tissues forms a rare mass lesion of the extremities. Two cases of primary hydatid disease in soft tissues are presented with MR imaging findings. A cystic mass with multiloculated or multicystic appearance was identified on MR images in both cases. The lesions were surrounded by a rim with two layers representing a collageneous and a vascularized pericyst. The contrast-enhanced images demonstrated the vascularized component of the wall clearly in the first case. In diagnosis of hydatid disease and in its differentiation from other cystic lesions of the extremities, we think that the described MR appearances can be used confidently.