Comparison of the effectiveness of contrast-enhanced mammography in detecting malignant lesions in patients with extremely dense breasts compared to the all-densities population.

Purpose: To assess the effectiveness of contrast-enhanced mammography (CEM) recombinant images in detecting malignant lesions in patients with extremely dense breasts compared to the all-densities population. Material and methods: 792 patients with 808 breast lesions, in whom the final decision on core-needle biopsy was made based on CEM, and who received the result of histopathological examination, were qualified for a single-centre, retrospective study. Patient electronic records and imaging examinations were reviewed to establish demographics, clinical and imaging findings, and histopathology results. The CEM images were reassessed and assigned to the appropriate American College of Radiology (ACR) density categories. Results: Extremely dense breasts were present in 86 (10.9%) patients. Histopathological examination confirmed the presence of malignant lesions in 52.6% of cases in the entire group of patients and 43% in the group of extremely dense breasts. CEM incorrectly classified the lesion as false negative in 16/425 (3.8%) cases for the whole group, and in 1/37 (2.7%) cases for extremely dense breasts. The sensitivity of CEM for the group of all patients was 96.2%, specificity - 60%, positive predictive values (PPV) - 72.8%, and negative predictive values (NPV) - 93.5%. In the group of patients with extremely dense breasts, the sensitivity of the method was 97.3%, specificity - 59.2%, PPV - 64.3%, and NPV - 96.7%. Conclusions: CEM is characterised by high sensitivity and NPV in detecting malignant lesions regardless of the type of breast density. In patients with extremely dense breasts, CEM could serve as a complementary or additional examination in the absence or low availability of MRI.

Abbreviated magnetic resonance imaging protocols in oncology: improving accessibility in precise diagnostics.

Cancer, as the second leading cause of death in the world, is one of the major public health concerns today. Accurate diagnosis and prompt initiation of adequate treatment are of key importance for prognosis. Abbreviated magnetic resonance protocols (AMRI) are promising techniques based on magnetic resonance imaging (MRI) protocols that shorten acquisition time without significant loss of examination quality. Faster protocols that focus on detection of suspicious lesions with most precise sequences, can contribute to comparable diagnostic performance of a full MRI protocol. The purpose of this article was to review the current application of AMRI protocols in several oncological diseases.

Retrospective Comparison of Contrast-Enhanced Spectral Mammography with Digital Mammography in Assessing Tumor Size in 668 Cases of Breast Cancer.

BACKGROUND Contrast-enhanced spectral mammography (CESM) is digital mammography with contrast agent. This promising new breast imaging method can be used for planning surgical treatment. This study compared CESM versus digital mammography (MG) in evaluating tumor size in breast cancer. MATERIAL AND METHODS Comparison of tumor dimensions in CESM, MG, and histopathology was made. The correlation of these data was assessed by histopathological type, biological subtype, grading of the carcinoma, and patient age. RESULTS The average difference in tumor size between CESM and histopathological examination was 5 mm. The differences in size measurement between CESM and MG were significant (p=0.00). The Pearson's linear correlation coefficients of CESM versus HP and MG versus HP were -0.01 (p=0.79) and -0.25 (p=0.00), respectively, indicating no differences between CESM and HP based on the lesion size. A weak negative correlation between those values was observed on MG. No relationship was found between the tumor size in CESM and the biological subtype, carcinoma malignancy degree, or patient age. CONCLUSIONS CESM is a new diagnostic method in breast cancer. The accuracy of measurement of tumor size using CESM is independent of lesion size, but it overestimates the size by 5 mm on average. The difference is not dependent on grading, biological subtype of the carcinoma, or patient age. They concern the histopathological type, and values are significantly greater in pre­invasive carcinomas.

The new method, the old problem - role of contrast-enhanced spectral mammography in the diagnosis of breast cancer among Polish women.

PURPOSE: The aim of the study was to evaluate spectral mammography (CESM) in diagnosing breast cancer, which is based on sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV). MATERIAL AND METHODS: The study included a group of 547 women who underwent spectral mammography and histopathological verification of the lesion, previously seen in mammography and/or ultrasound. In the group of 547 women, 593 focal lesions were diagnosed. All CESM examinations were carried-out with a digital mammography device dedicated to performing dual-energy CESM acquisitions. An intravenous injection of 1.5 ml/kg of body mass of non-ionic contrast agent was performed. RESULTS: The analysis includes 593 breast lesions, in this group cancer was detected in 327 (55.14%) lesions, and in 256 (43.17%) cases benign lesions were confirmed by histopathological examination and at least 12 months of observation. The method shows differentiation of benign and malignant lesions in the breast: sensitivity of 97.86%, specificity of 59.4%, PPV - 74.76%, NPV - 95.76%. CONCLUSIONS: Spectral mammography could be an ideal method to detect breast cancer. Thanks to the high NPV (95.76%), it facilitates the exclusion of cancer in situations where pathological contrast enhancement is not observed. The unsatisfactory specificity of the study (59.4%) would not make it safe to avoid a core needle biopsy of lesions that undergo contrast enhancement.

The first case of a patient with de novo partial distal 16q tetrasomy and a data's review.

We report on a patient with severe psychomotor disability, numerous dysmorphic features, and congenital malformations resulting from a complex genomic rearrangement on 16q24.1-q24.3 involving a de novo duplication-triplication pattern. To the best of our knowledge, this is the first reported patient presenting with this aberration within the distal chromosome 16q. We suggest that the clinical phenotype of our patient results from over-dosage of genes mapped to the region with duplication/triplication (five genes: FOXF1, FOXC2, ANKRD11, SPG7 and FANCA seem to play a peculiar role). Detailed molecular characterization and documentation of the complex genomic rearrangement observed in the proband and of the clinical presentation are important for accurate genotype-phenotype correlations in genetic counseling. Delineation of the gene map for the terminal region of chromosome 16q will provide insight into this chromosome 16q24.1-q24.3 contiguous gene duplication-triplication syndrome.

1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-additional case and data's review.

We report on a 9-year-old girl with subtelomeric 20p microdeletion. She was referred for genetic counseling because of learning difficulties/school problems. During the evaluation short stature, hypoplastic fingernails, submucous cleft palate with cleft uvula, flat feet, and frequent upper respiratory infections, as well as the large fontanelle after birth were observed. No facial dysmorphic features specific for chromosomal aberrations were present. The diagnosis of deletion of 20p13 was established by MLPA, and delineated by arrayCGH. Our report describes the third individual with this approximate deletion, and presents detailed molecular and phenotypic characteristics providing new data supporting future genotype-phenotype study.

[Probability rate of unbalanced offspring at birth and risk of unfavorable pregnancy outcomes in families of carriers of chromosomal reciprocal translocations involving chromosome 7]. / Ocena prawdopodobienstwa urodzenia dziecka z niezrównowafonym kariotypem oraz ryzyka wystqpienia róznych patologii ciazy w rodzinach nosicieli translokacji chromosomowych wzajemnych angazujacych chromosom 7.

INTRODUCTION: Carriership of reciprocal chromosomal translocation (RCT) may be the reason the occurrence of congenital malformations in the offspring, early neonatal death, stillbirth, and recurrent miscarriages due to unbalanced karyotype of gametes. The probability rate for individual categories of unfavorable outcomes depends on the kind of chromosome involved and is individually variable. OBJECTIVES: The aim of study was to estimate the probability rates for unbalanced offspring and to evaluate the risk for different categories of unfavorable pregnancy outcomes, depending on the size of chromosomal segment with differentiation between maternal/paternal origin of the reciprocal chromosomal translocations involving chromosome 7p (RCT-7p) and 7q (RCT-7q). In addition, the use of the obtained results has been illustrated by the example of a family with unique RCT t(7;9)(p21.3,p23). MATERIAL AND METHODS: Empirical and cytogenetic data on 341 pregnancies and offspring of 133 carriers were collected from 69 pedigrees of carriers of RCT-7p and RCT-7q at risk for a single 7 segment imbalance. The probability rates of particular form of pregnancy pathology have been calculated according to the method of Stengel-Rutkowski and Stene, including all forms of meiotic segregation and their survival rates after fertilization to term childbirth. RESULTS: The probability rates for unbalanced offspring for carriers of RCT-7p after 2:2 disjunction and adjacent-1 segregation were calculated as 5.5% +/- 2.2% (6/108); for maternal (MAT) and paternal (PAT) carriers were about < 1% (0/56) and 13.6 +/- 5.2% (6/44) (p = 0.04) respectively. Considering different segment lengths of 7p, the following values for shorter and longer segments were obtained: 23.0 +/- 11.7% (3/13) for 7p21-->pter; 3.3 +/- 3.3% (1/30) for 7p 14-->pter and 3.1 +/- 2.1% (2/65) for 7p 1-->pter The risk figures for stillbirth/earl neonatal death were estimated at 2.8 +/- 1.6% (3/108), but for miscarriage were calculated at 25.9 +/- 4.2% (28/108) for carriers RCT-7p. The probability rates for unbalanced offspring at birth for carriers of RCT-7q were calculated as 2.7 +/- 1.5% (3/111); for MAT and PAT carriers were 3.5 +/- 2.0% (3/86) and < 2.6% (0/19) respectively. Considering different segment lengths of 7q, the following values for shorter and longer segments were obtained: 6.2 +/- 6.1% (1/16) for 7q33-->qter; 5.3 +/- 3.6% (2/38) for 7q32-->qter and < 0.82% (0/57) for 7q11-->qter. The risk figures for stillbirth/early neonatal death were estimated at 9.9 +/- 2.8% (11/111), but for miscarriage were calculated at 34.2 +/-4.5% (38/111) for carriers RCT-7q. The probability estimated values for unbalanced fetuses, evaluated prenatally in the second trimester of pregnancy for carriers of RCT-7p and RCT-7q were similar i.e. 41.7 +/- 14.2% (5/12) and 46.7 +/-12.9% (7/15), respectively. CONCLUSIONS: 1. The probability rates for unbalanced offspring and the risk values for individual categories of unfavorable outcomes for carriers of RCT-7 are different and depend on the size of chromosome 7 segment involved in RCT 2. The probability rate for unbalanced offspring for paternal carriers of RCT-7p is higher than for maternal carriers (p = 0.04). 3. It is suggested that the probability rate for unbalanced offspring for maternal carriers of RCT-7q may be higher than for paternal carriers.

The application of abbreviated MRI protocols in malignant liver lesions surveillance.

Cancer is one of the leading public health problems globally. Since time is of the essence in oncology, the sooner an accurate diagnosis is made, the better the prognosis for patients. There is a growing need to find a flawless and fast imaging method for cancer detection, but also for its evaluation during treatment. In this respect, the possibilities and novelties of magnetic resonance imaging are particularly promising. Abbreviated magnetic resonance imaging (AMRI) protocols have aroused universal interest as a compromise between scanning time reduction and preservation of image quality. Shorter protocols focused on the detection of suspicious lesions with the most sensitive sequences could provide a diagnostic performance similar to the one of the standard protocol. The purpose of this article is to review the ongoing accomplishments in the use of AMRI protocols in liver metastases and HCC detection.

BIRADS 4 - Is it possible to downgrade lesions that do not enhance on recombinant contrast-enhanced mammography images?

PURPOSE: Analysis of the morphology of lesions classified into the BI-RADS 4 category and assessment of the possibility of downgrade the BI-RADS category in those that did not show enhancement on recombinant contrast-enhanced mammography (CEM) images. METHOD: The retrospective, single-center study included 528 patients who underwent a core needle biopsy performed from January 2017 to November 2022 due to a breast lesion classified as BI-RADS 4 on CEM. Patients' electronic records and imaging examinations were reviewed. Individual lesions were classified into the morphological categories of mass, non-mass, and microcalcifications. Sensitivity, specificity, positive as well as negative predictive values were calculated for the whole group and individual morphological categories. The influence of the lesions' diameter on the results was analyzed. RESULTS: CEM NPV for the whole group was 93.9% (±95% CI: 90.0-96.4), for mass lesions 100% (±95% CI: 94.5-100), for non-mass lesions 97.8% (±95% CI: 87.0-99.9) and 87.9% (±95% CI: 80.3-93.0) for microcalcifications. Given that 230 out of 383 benign lesions were not contrast-enhancing, 60.1% of unnecessary CNBs would have been correctly avoided. CEM sensitivity for lesions < 20 mm was lower than for lesions ≥ 20 mm and was respectively 86.6% (±95% CI: 76.8-92.8) vs 94.6% (±95% CI: 86.0-98.2), respectively. CONCLUSION: CEM is characterized by high sensitivity in the detection of malignant lesions in the case of lesions with mass and non-mass morphology. The high NPV for recombinant images suggests that in the case of these lesions, the lack of enhancement supports the benign nature of the lesion and may lead to a downgrade of the BI-RADS category.

Bioequivalence study of 500 mg cefuroxime axetil film-coated tablets in healthy volunteers.

The aim of the study was to investigate the bioavailability of a generic product of 500 mg cefuroxime axetil film-coated tablets (test) as compared to that of a branded product (reference) at the same strength to determine bioequivalence and to apply for regulatory approval. The secondary objective of the study was to evaluate tolerability of both products. A double blinded, randomized, crossover, two-period, single-dose, comparative study was conducted in Caucasian healthy volunteers in fasting conditions. A single oral dose administration of the test or reference product was followed by 7-day wash-out period. The cefuroxime concentration was determined using a validated HPLC-UV method. The results of the single-dose study in healthy volunteers indicated that the film-coated tablets of Tarsime 500 mg manufactured by Tarchominskie Zaklady Farmaceutyczne Polfa S.A. (test product) are bioequivalent to those of Zinnat manufactured by GlaxoSmithKline Export Ltd. (reference product). Both products were well tolerated.

The Usefulness of Spectral Mammography in Surgical Planning of Breast Cancer Treatment-Analysis of 999 Patients with Primary Operable Breast Cancer.

Contrast-enhanced spectral mammography (CESM) is a promising, digital breast imaging method for planning surgeries. The study aimed at comparing digital mammography (MG) with CESM as predictive factors in visualizing multifocal-multicentric cancers (MFMCC) before determining the surgery extent. We analyzed 999 patients after breast cancer surgery to compare MG and CESM in terms of detecting MFMCC. Moreover, these procedures were assessed for their conformity with postoperative histopathology (HP), calculating their sensitivity and specificity. The question was which histopathological types of breast cancer were more frequently characterized by multifocality-multicentrality in comparable techniques as regards the general number of HP-identified cancers. The analysis involved the frequency of post-CESM changes in the extent of planned surgeries. In the present study, MG revealed 48 (4.80%) while CESM 170 (17.02%) MFMCC lesions, subsequently confirmed in HP. MG had MFMCC detecting sensitivity of 38.51%, specificity 99.01%, PPV (positive predictive value) 85.71%, and NPV (negative predictive value) 84.52%. The respective values for CESM were 87.63%, 94.90%, 80.57% and 96.95%. Moreover, no statistically significant differences were found between lobular and NST cancers (27.78% vs. 21.24%) regarding MFMCC. A treatment change was required by 20.00% of the patients from breast-conserving to mastectomy, upon visualizing MFMCC in CESM. In conclusion, mammography offers insufficient diagnostic sensitivity for detecting additional cancer foci. The high diagnostic sensitivity of CESM effectively assesses breast cancer multifocality/multicentrality and significantly changes the extent of planned surgeries. The multifocality/multicentrality concerned carcinoma, lobular and invasive carcinoma of no special type (NST) cancers with similar incidence rates, which requires further confirmation.

Multifocality and Multicentrality in Breast Cancer: Comparison of the Efficiency of Mammography, Contrast-Enhanced Spectral Mammography, and Magnetic Resonance Imaging in a Group of Patients with Primarily Operable Breast Cancer.

BACKGROUND: The multifocality and multicentrality of breast cancer (MFMCC) are the significant aspects that determine a specialist's choice between applying breast-conserving therapy (BCT) or performing a mastectomy. This study aimed to assess the usefulness of mammography (MG), contrast-enhanced spectral mammography (CESM), and magnetic resonance imaging (MRI) in women diagnosed with breast cancer before qualifying for surgical intervention to visualize other (additional) cancer foci. METHODS: The study included 60 breast cancer cases out of 630 patients initially who underwent surgery due to breast cancer from January 2015 to April 2019. MG, CESM, and MRI were compared with each other in terms of the presence of MFMCC and assessed for compliance with the postoperative histopathological examination (HP). RESULTS: Histopathological examination confirmed the presence of MFMCC in 33/60 (55%) patients. The sensitivity of MG in detecting MFMCC was 50%, and its specificity was 95.83%. For CESM, the sensitivity was 85.29%, and the specificity was 96.15%. For MRI, all the above-mentioned parameters were higher as follows: sensitivity-91.18%; specificity-92.31%. CONCLUSIONS: In patients with MFMCC, both CESM and MRI are highly sensitive in the detection of additional cancer foci. Both CESM and MRI change the extent of surgical intervention in every fourth patient.

Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome.

We describe the clinical characteristics of two patients with cat-eye syndrome (CES, MIM #115470) resulting from a supernumerary marker chromosome that includes 22pter-q12.3. They both presented a constellation of features typical of CES, including coloboma, auricular malformations, heart and renal anomalies, as well as hepatic dysfunction, which led to severe effects. In one case Pierre Robin sequence was diagnosed which has not been described earlier in this trisomy. Although CES is a well known, but infrequently diagnosed disorder, we draw attention both to its clinical overlaps with other disorders and, in view of the clinical variability being identified within the 22q11 region, to the importance of careful molecular examination of proximal 22q in patients with suggestive clinical signs.