Common Ultrasound Findings Research Articles

Klippel-Trénaunay-Weber Syndrome: Prenatal Diagnosis and Review of the Literature.

Klippel-Trénaunay-Weber syndrome (KTW) is a rare congenital disease, representing a challenge in prenatal diagnosis due to overlapping characteristics with other syndromes and no specific genetic markers known to date. We have collected all the cases present in the literature on the prenatal diagnosis of KTW, emphasizing common ultrasound findings that can guide the clinician and genetics to the prenatal counseling. Thus, we collected all the information about the postnatal prognosis and the necessity for treatment. Our review of 44 cases highlights the typical common features: hemihypertrophy, predominantly affecting the right leg, with cystic lesions extending to the trunk or upper limbs and rare internal organ involvement. Prenatal complications, including hydrops and polyhydramnios, emphasize the need for a careful ultrasound follow-up. Despite no identified genetic mutation, genetic counseling and invasive testing are recommended. Mortality rate due to a severe complication known as Kasabach-Merritt syndrome, underlines the importance of early diagnosis and accurate management strategies. Prenatal diagnosis of KTW, guided by ultrasound findings and genetic counseling, could help with informed decision-making and optimal care planning.

Gallbladder diseases detected by ultrasound and correlated risk factors

Background. Gallbladder diseases are relatively common, most of which are asymptomatic, others may be presented with right hypochondriac pain. Obesity, metabolic syndrome, long-term fasting, rapid weight reduction, bariatric surgery and drugs are associated with bile stasis and hence participate in gallstone formation. The study aimed to determine the variety of gall bladder disease detected by ultrasound in Iraqi patients. Methods. This study involved a randomly selected sample of 100 men and 100 women who attended the ultrasound clinic at Emamein Kadhimein Medical City for abdominal ultrasonography for various reasons in a period of 8 months (Oct 2022-Jul 2023). Data about age, sex, risk factors and symptoms were collected from those who had ultrasound features of gall bladder diseases. Results. It was found that gall bladder diseases are more common in women (23% of all examined women) than men (11% of all examined men). The most affected age groups are between 40-49, the percentage of women affected in this age group is 30.47% and men 12%. Most of the cases were without symptoms. The most common ultrasound finding is gallstones, where the percentage of affected women reached 82.6% and the affected men 81.8%. Conclusion. Ultrasound has a valuable role in screening, detection and follows up of gall bladder diseases. It is safe, available and cost-effective examination. Gall bladder diseases particularly gall stones are relatively common in Iraqi population, being more common in middle age women with clear association with obesity and multiparty among other risk factors. Most of patients were asymptomatic others presented with symptoms like abdominal pain.

Enfermedad tiroidea posterior a vacunación contra SARS-COV-2

Introduction: Vaccines have been an essential part of the SARS-CoV-2 pandemic management and control. However, aluminum salts in vaccines, used to enhance the immune response, may be associated with autoimmune/inflammatory syndrome induced by adjuvants (ASIA). This syndrome has been linked to other factors, such as infectious agents, silicone implants, and mineral oil inoculation. Data on autoimmune endocrine disorders and ASIA following SARS-CoV-2 vaccination is scant. Objective: to report cases of thyroid disorders following COVID-19 vaccination, in patients who attended the endocrinology clinic at Clínica Imbanaco, Cali, Colombia, in 2021. Methods: clinical, laboratory and imaging description of 8 patients who attended the endocrinology service. Results and discussion: 87.5% were females, aged 46.8 ± 10 years. Time between vaccine administration and symptoms onset was 13.8 days and the most related vaccine was the Pfizer/BioNTech vaccine followed by Sinovac-CoronaVac and AstraZeneca/AZD1222 vaccines. Subacute thyroiditis presented in 37.5%, Graves´ disease in 37.5%, silent thyroiditis in 12.5% and hypothyroidism in 12.5%. Myalgias and palpitations were the most common symptoms. Subacute thyroiditis was the most common ultrasound finding. Conclusions: our case series evidences a relationship between thyroid disease and SARS-CoV-2 vaccination. Given controversy remains, further studies will be necessary to establish causality.

Investigations on ultrasonography in the diagnosis of nodular localized cutaneous neurofibroma.

To describe the ultrasound characteristics of nodular localized cutaneous neurofibroma (NLCN). Clinical features and ultrasound characteristics of 43 lesions of 40 patients pathologically proven as NLCNs at Peking University Shenzhen Hospital from October 2014 to May 2022 were analyzed retrospectively. The location, length-to-thickness (L/T) ratio, thickness-to-width (T/W) ratio, shape, margin, capsule, echogenicity, echotexture, posterior features, vascularity, and "rat tail sign" were evaluated. All ultrasound findings showed almost perfect agreement. More than a half of NLCNs (n = 24, 55.8%, p < 0.001) were located in the subcutaneous fat layer wholly with well-demarcation from dermis and deep fascia. Most of the NLCNs were fusiform shape (n = 27, 62.8%, p < 0.001) in the long axis and oval shape (n = 35, 81.4%, p < 0.001) in the short axis. The other ultrasound findings of NLCNs included well-defined (n = 42, 97.7%, p < 0.001), encapsulated (n = 39, 90.7%, p < 0.001), predominately hypoechoic (n = 34, 79.1%, p < 0.001), homogeneous (n = 39, 90.7%, p < 0.001), posterior enhancement (n = 29, 67.4%, p = 0.033), and avascularity (n = 37, 86.0%, p < 0.001). Only a quarter (n = 11, 25.6%, p = 0.002) of lesions were recognized with the "rat tail sign." NLCNs present as fusiform shape in long axis and round shape in short axis. The common ultrasound findings of NLCNs are well-defined, encapsulated, predominately hypoechoic, homogeneous lesion with posterior enhancement, and poor blood supply. The "rat tail sign" has low sensitivity in NLCNs.

How to Perform a Baseline Ultrasound for Subfertility

The presentation, “How to Perform a Baseline Ultrasound for Subfertility,” delves into the crucial role of ultrasound in assessing and diagnosing subfertility in female patients. This educational session aims to equip healthcare professionals with essential knowledge and skills to perform baseline ultrasounds effectively. The presentation will emphasise the value of ultrasound as a non-invasive and informative diagnostic tool. Attendees will gain insights into the specific indications for baseline ultrasound, including assessment of pelvic structures, antral follicle counting, and evaluation for common pathologies contributing to subfertility. The presentation will then explore the step-by-step procedure for performing a baseline ultrasound, focusing on patient preparation, transducer selection, and image acquisition techniques. Furthermore, the session will delve into common ultrasound findings associated with subfertility, enabling practitioners to recognise and interpret potential abnormalities accurately. Through this presentation, healthcare professionals will enhance their proficiency in baseline ultrasound, empowering them to contribute significantly to the diagnosis and management of subfertility, ultimately supporting their patients on their journey towards achieving successful pregnancies.

Point-of-care Ultrasound Identification of Tension Hydrothorax in the Emergency Department: A Case Series.

Tension hydrothorax is an uncommon emergent condition in which hemodynamic instability and respiratory compromise may occur. Emergency physicians may diagnose tension hydrothorax by point-of-care ultrasound. We discuss the key sonographic features assisting in identification. Four patients with history of malignancy who were found to have tension hydrothorax exhibited the following common ultrasound findings: massive, left-sided pleural effusion; complete, compressive atelectasis; and shift of cardiac structures into the right hemithorax, resulting in right-sided probe placement to obtain cardiac views. This is the first instance to our knowledge of point-of-care ultrasound findings in tension hydrothorax to be described in the literature.

Focussed Assessment with Sonography in acute Lassa Fever (FASLa): Development of a point-of-care protocol and description of common ultrasound findings

Managing Lassa fever (LF) patients is challenging because of the complexity of this life-threatening infectious disease, the necessary isolation measures, and the limited resources in countries where it is endemic. Point-of-care ultrasonography (POCUS) is a promising low-cost imaging technique that may help in guiding the management of patients. We conducted this observational study at the Irrua Specialist Teaching Hospital in Nigeria. We developed a POCUS protocol, trained local physicians who applied the protocol to LF patients and recorded and interpreted the clips. These were then independently re-evaluated by an external expert, and associations with clinical, laboratory and virological data were analyzed. We developed the POCUS protocol based on existing literature and expert opinion and trained two clinicians, who then used POCUS to examine 46 patients. We observed at least one pathological finding in 29 (63%) patients. Ascites was found in 14 (30%), pericardial effusion in 10 (22%), pleural effusion in 5 (11%), and polyserositis in 7 (15%) patients, respectively. Eight patients (17%) showed hyperechoic kidneys. Seven patients succumbed to the disease while 39 patients survived, resulting in a fatality rate of 15%. Pleural effusions and hyper-echoic kidneys were associated with increased mortality. In acute LF, a newly established POCUS protocol readily identified a high prevalence of clinically relevant pathological findings. The assessment by POCUS required minimal resources and training; the detected pathologies such as pleural effusions and kidney injury may help to guide the clinical management of the most at-risk LF patients.

Correlation of Hepatobiliary Ultrasound Findings with CD4+ Count and Viral Load in Adult Patients with Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome in South-East Nigeria

Background: The human immunodeficiency virus (HIV) belongs to a cytopathic retrovirus that cause acquired immune deficiency syndrome (AIDS) over time. Due to the suppression of the immune system by this retrovirus, many disease processes may occur. Abdominal ultrasonography is a cost-effective, safe, accessible, and noninvasive means of demonstrating the hepatobiliary manifestations of HIV/AIDS. CD4+ count and viral load are the two important markers. Objective: This study aims at correlating the hepatobiliary ultrasound findings with CD4+ count and viral load in adult patients with HIV/AIDS in South East, Nigeria. Materials and Methods: This was a 12-month cross-sectional study of 210 adult patients with HIV/AIDS, carried out from January 2020 to December 2021 in South East, Nigeria. Each patient's abdomen was scanned using 2.5–5 MHz curvilinear on an “ALOKA” ultrasound machine. The viral load and CD4+ count results were collected from the patient's folders at the Medical Records Department. Statistical analysis was done using IBM SPSS, version 21.0 (IBM Corporation, Armonk, NY, USA, 2011). Results: A total of 210 patients with HIV/AIDS who had a mean age of 39.1 ± 10.9 years, were recruited into this study. Patients with severe CD4+ class and high viral load had the highest proportion of abnormal hepatobiliary findings (28.6% and 25.7%, respectively). Hepatomegaly, hyperechoic liver, coarse parenchyma, ascites, gallbladder abnormalities, and lymphadenopathy were the common ultrasound findings, some of which showed statistically significant correlation with CD4+ count and viral load. Conclusion: Many of the hepatobiliary ultrasound findings showed statistically significant correlation with CD4+ count and viral load.

Gall bladder Carcinoma: A Review of Common Ultrasound Findings in a High Incidence Region

Gall bladder Carcinoma: A Review of Common Ultrasound Findings in a High Incidence Region

Lung ultrasound as a screening tool for SARS-CoV-2 infection in surgical patients.

To evaluate the diagnostic performance of lung ultrasound (LUS) in screening for SARS-CoV-2 infection in patients requiring surgery. Patients underwent a LUS protocol that included a scoring system for screening COVID-19 pneumonia as well as RT-PCR test for SARS-CoV-2. The receiver operator characteristic (ROC) curve was determined for the relationship between LUS score and PCR test results for COVID-19. The optimal threshold for the best discrimination between non-COVID-19 patients and COVID-19 patients was calculated. Among 203 patients enrolled (mean age 48 years; 82 males), 8.3% were COVID-19-positive; 4.9% were diagnosed via the initial RT-PCR test. Of the patients diagnosed with SARS-CoV-2, 64.7% required in-hospital management and 17.6% died. The most common ultrasound findings were B lines (19.7%) and a thickened pleura (19.2%). The AUC of the ROC curve of the relationship of LUS score with a cutoff value >8 versus RT-PCR test for the assessment of SARS-CoV-2 pneumonia was 0.75 (95% CI 0.61-0.89; sensitivity 52.9%; specificity 91%; LR (+) 6.15, LR (-) 0.51). The LUS score in surgical patients is not a useful tool for screening patients with potential COVID-19 infection. LUS score shows a high specificity with a cut-off value of 8.

Characterization of portal vein and other abdominal organs in portal hypertension patients using ultrasound

Portal hypertension occurs when the venous pressure increases in the portal vein due to some pathological changes such as liver cirrhosis, which results in an increased diameter of the portal and splenic vein. Objective: To assess and characterize the portal vein and other abdominal organs in portal hypertension patients using ultrasound to minimize the incidence of serious and life-threatening consequences of portal hypertension. Methods: A cross-sectional study with a sample size of 108 patients was carried out in five months, in a private hospital in Gujranwala. The subjects of age &gt; 30 years were included with other considered variables such as gender, portal and splenic vein diameter, size, and characteristics pattern of the liver &amp; spleen size with other abdominal complications. After taking informed written consent, patients were examined in a supine position using Mindray DC-3 Ultrasound Machine with a convex probe of 3.5 MHz’s frequency. After collecting data, it was analyzed using SPSS version 20. Results: The study revealed that 73.1% of patients were predominantly male with a male-to-female ratio and the patients in age between 50 – 59 years were more afflicted with this condition. 51.9% of patients were diagnosed with moderate dilatation of the portal vein and severe splenic vein dilatation was seen in 36.1% of the patients. The liver size was reduced in 75% of patients. 35.2% of patients were diagnosed with grossly enlarged spleen while the other 65% of patients were with mild and moderate splenomegaly. In 87% of patients, normal liver echotexture was changed into a heterogenous texture. Only 12% of patients were diagnosed with ascites and 27.8% with increased GB walls thickness. Conclusions: There was a notable link of portal hypertension with gender and age, as males of age between 50 – 59 years were commonly affected with this condition. Increased diameter of the portal and splenic vein, reduced liver size, splenomegaly, heterogeneous liver echotexture, ascites, and increased GB wall thickness were the common ultrasound findings in patients with portal hypertension.

Ultrasonographic characteristics of Hürthle cell neoplasms: prediction of malignancy.

PurposeThis study investigated the ultrasound (US) features of malignancy in patients with Hürthle cell neoplasms (HCNs) of the thyroid gland.MethodsThe present study included 139 HCNs that had undergone surgical excision at a single institution from 1996 to 2020 and had preoperative US images. The sonographic characteristics of HCNs were correlated with their pathological results. The US findings associated with malignancy were explored using logistic regression analysis, and the diagnostic performance and cutoff were assessed using receiver operating characteristic analysis.ResultsThe most common US findings of HCNs were a solid content (76.3%), oval to round shape (100%), hypoechogenicity (70.5%), a smooth margin (95.0%), the halo sign (90.6%), and no calcifications (93.5%). HCNs were commonly smaller in pathologic measurements than in US measurements (smaller, same, and greater than US measurements in 60.4%, 21.6%, and 18.0% of HCNs, respectively; P<0.001). On US, malignant nodules were significantly larger than benign nodules (3.4±1.6 cm vs. 2.2±1.2 cm, P<0.001). Multiple logistic regression showed that the US tumor size was an independent predictor of malignancy (P=0.001; odds ratio, 1.730 for a 1-cm increase [95% confidence interval, 1.258 to 2.375]). The best cutoff US tumor size for predicting malignancy was 3.35 cm (sensitivity, 53.1%; specificity, 87.9%).ConclusionThe US tumor size was found to be an independent predictor of malignancy in HCNs, and a US tumor size >3.35 cm might be used as a criterion to suggest malignancy. The size of HCNs often showed discrepancies between US and pathologic measurements.

Sonographic features of pelvic pain among adults in a Nigerian population

Background: Pelvic pain is abdominal pain located below the level of umbilicus, including frequent lower back pain with or without radiation to the thighs. The aim of this study was to evaluate the common ultrasound findings in subjects with pelvic pain.Methods: It was a retrospective study and involved collection of information from the folders of the subjects. A total of 820 folders were used for this study. Information collected from these folders included; the age, sex, provisional diagnosis and ultrasound findings. Data collected was arranged and statistical package for social sciences (SPSS) version 20 was used for analysis. Descriptive statistics was used and results arranged in frequency tables and percentages.Results: The result showed that males were 160 (20%) and females were 660 (80%). The age ranged from &lt; 20years to 70 years and above. The mean age of the subjects was 35.66±15.82 years. The mean age of the male is 51.83±21.56 years and that of the females is 31.77±11.02 years. Normal scan was the predominant ultrasound finding. The most common pathological finding was uterine fibroid (21.3%) and followed by pelvic inflammatory disease (15.2%).Conclusions: Ultrasound is an essential tool in the diagnosis of pelvic pain in males and females. Uterine fibroid was the most common pathological finding in females while benign prostate hypertrophy was the most common in males.

Prenatal diagnosis of fetuses with Emanuel syndrome: Results of ultrasound examination and invasive genetic testing.

To investigate prenatal manifestations of Emanuel syndrome (ES) by retrospectively analyzing the results of prenatal diagnosis. Thirteen fetuses were collected from five hospitals, of which six were confirmed with 47,der(22)t(11;22; ES) by karyotype and chromosomal microarray analysis (CMA). Seven were diagnosed with 46,t(11;22) balanced translocations by karyotype, including one de novo mosaic 46,XX,t(11;22). In 3/7, CMA was performed but did not identify chromosomal imbalances. The results of prenatal diagnoses were reviewed, including ultrasound examinations and genetic testing. In ES fetuses, the derivative 22 was consistently inherited from the mother, while in the balanced translocation group, the t(11;22) chromosome was of paternal origin in 3/6 cases, All ES fetuses presented with multiple abnormalities by ultrasound examinations. Diaphragm hernia (3/6), Dandy-Walker complex (3/6), and kidney aplasia (3/6), were the most common ultrasound findings. Sonographic soft markers such as increased nuchal translucency, increased nuchal fold thickness appeared in 3 cases and all of these were associated with other anomalies. However, none of the ultrasound findings differentiated ES from other genetic syndromes during fetal period. In this series, in fetuses with a der(22), the derivative chromosome was consistently of maternal origin. In contrast, 46,t(11;22) balanced translocations were of maternal or paternal origin. The results contribute to the literature regarding the fetal phenotype of ES. Due to the absence of specific features distinguishing ES from other genetic syndromes, confirming the diagnosis through invasive genetic testing is necessary.

Prenatal imaging features and perinatal outcomes of foetal volvulus-A literature review.

To conduct a review of the literature on foetal volvulus with emphasis on prenatal imaging, pregnancy characteristics and clinical outcomes. A review of all published cases of foetal volvulus diagnosed prenatally and indexed in Medline, EBSCOhost, CINAHL, SOCIndex and Healthy Policy Reference Centre. Studies without antenatal sonographic signs of foetal volvulus and without a postpartum surgical diagnosis were excluded. Data were analysed for frequencies and distributions and tested for statistical significance. Eighty-eight cases of foetal volvulus were identified from 58 published case reports/series. The most common ultrasound findings were dilated bowel/stomach (77.3%), polyhydramnios (30.7%) and whirlpool/snail sign (28.4%). Median gestation at diagnosis was 31.9weeks (IQR 27-34) and mean gestation at delivery was 34.5weeks (SD 2.8). Underlying aetiology included intestinal malrotation (15.9%), cystic fibrosis (14.8% of all cases, 32.5% of tested cases) and abnormal mesenteric fixation (12.5%). Complications included intestinal atresia (36.4%) and foetal anaemia (9.1%). The overall perinatal mortality rate was 14.5%. Foetal volvulus is a rare condition with high rates of preterm birth and perinatal mortality. Intestinal malrotation and cystic fibrosis are common predisposing causes, although the majority are idiopathic. Bowel and/or gastric dilatation is by far the most common sonographic finding.

Changes in ultrasound imaging of joints, entheses, bursae and tendons 24 and 48 h after adjusted weight training.

Background:Joint effusion and enthesitis are common ultrasound findings in rheumatic diseases such as rheumatoid arthritis or spondyloarthritis. However, changes of joints and entheses were not only observed in patients but also in physically active individuals and athletes.Objectives:The purpose of this study was to evaluate joint, entheseal, bursal and tendon musculoskeletal ultrasound (MSUS) findings in large and medium joints of young healthy individuals after completing a standardised weight training.Design:This is a prospective cohort study.Methods:MSUS examinations of large- and medium-sized joints, and related entheseal sites, bursae and tendons were performed on young healthy individuals (ages 18–30 years). Before, 24 and 48 h after completing 1 h of standardised weight exercise, the subjects were evaluated by MSUS. The development of the MSUS findings and associated effects were examined using generalised linear mixed effects models.Results:In total, 51 healthy individuals (52.9% female) with a mean age of 23.7 (±2.5) years were enrolled. The results showed an increase in the number of individuals with at least one joint effusion from 37 (72.5%) before the weight training to 48 (94.1%) after 48 h. Entheses with pathologies were observed in 14 participants (27.5%) at baseline, increasing to 29 participants (56.9%) 48 h after the weight training. Biceps tendon sheath effusion was detected in 9 individuals (17.6%) prior to training, rising to 22 individuals (43.1%) after 48 h. A significant increase in the number of joints with effusion and abnormal entheses within 48 h after the weight training was indicated by the generalised linear mixed effects models.Conclusion:Within 48 h after the weight training session, a significant increase in the prevalence of joint effusion in large and medium joints and the prevalence of abnormal entheses was observed. As a result, when performing and interpreting an MSUS examination, the patient’s physical activities should be taken into account.

Three‐dimensional gynaecological ultrasound part two: A pictorial essay

AbstractThree‐dimensional ultrasound (3DUS) is becoming a standard part of obstetric and gynaecological ultrasound examinations. With most high‐end ultrasound systems now incorporating three‐dimensional functionality, the technology can be used to enhance and/or confirm a diagnosis in many gynaecological pathologies. Part one of this two‐part series covered the technical aspects of performing three‐dimensional gynaecological ultrasound. This paper, part two, presents a pictorial essay of 3DUS in gynaecological imaging serving to educate sonographers and other ultrasound users on the typical appearance of some common, and not so common ultrasound findings.

Increased gene expression of TIMP1 and CHI3L1 in fine-needle aspiration biopsy samples from papillary thyroid cancer as compared to benign nodules.

Thyroid nodules are common ultrasound findings with malignancy rate 7%-15%. Our objective was to assess the relative expression of the tissue inhibitor of metalloproteinase-1 gene (TIMP1) and chitinase-3-like protein 1 gene (CHI3L1) in fine-needle aspiration biopsy (FNAB) washouts and the serum levels of their protein products (TIMP-1 and chitinase-3-like protein 1 known as YKL-40) in patients with papillary thyroid cancer (PTC) and patients with benign nodules. Furthermore, the correlation between gene expression and circulating protein product was evaluated. Eighty patients who underwent FNAB in one tertiary center were recruited in the study. Forty with Bethesda V and VI nodules were operated and PTC was confirmed. The other 40 patients were with Bethesda II nodules. TIMP-1 and YKL-40 serum levels were measured in all subjects. The TIMP1 and CHI3L1 expression was assessed in FNAB washouts from 20 PTC patients and 20 benign cases using quantitative PCR. The relative expression of TIMP1 and CHI3L1 was significantly higher in the PTC group than in the benign group (p < .001 for TIMP1; p=.018 for CHI3L1). The PTC patients had higher serum TIMP-1 than the patients with benign nodules (p=.036). We did not find significant difference in the YKL-40 level between the two groups. TIMP1 and CHI3L1 expression did not correlate with the serum levels of their protein products. FNAB washouts could be used for identification of diagnostic markers. The increased TIMP1 and CHI3L1 expression implies a role of these genes in the PTC carcinogenesis.

Ultrasound-Verified Peripheral Arthritis in Patients with HLA-B*35 Positive Spondyloarthritis

Background: We aimed to investigate possible association between the HLA-B*35 allele and peripheral arthritis, tenosynovitis and enthesitis. Methods: Ultrasound of peripheral joints and tendons was performed in 72 HLA-B*35 positive patients with preliminary diagnosis of undifferentiated axial form of spondyloarthitis and joint and tendon pain. Patients with other known types of axial and peripheral spondyloarthritis were excluded as well as patients with other known types of arthritis. Results: Pathological changes were found in the joints of 33 (46%) patients and on the tendons in 13 (18%) patients. The most common ultrasound findings were joint effusion and synovial proliferation with positive power Doppler signal grade 1. The most common ultrasound finding in patients with painful tendons was tenosynovitis. A higher disease activity and an increased incidence of elevated CRP (≥5 mg/L) were more often observed in the group with positive ultrasound findings. Conclusion: In this study, we showed that the HLA-B*35 allele could be a potential risk factor for developing peripheral arthritis, but not for tenosynovits and enthesitis in patients with the undifferentiated axial form of spondyloarthritis. This result may influence the follow up of these patients, especially since it gives us an opportunity to consider the use of different types of DMARDs in the treatment of these patients.

Combination of individual tumor gene expression profiles and quantitative ultrasound and mammography imaging to understand the response to neoadjuvant chemotherapy among Hispanic-Latina women with early stages of triple-negative breast cancer.

e12605 Background: Triple-negative breast cancer (TNBC) is a heterogeneous subtype of breast cancer (BC) characterized by the absence of targetable receptors. Traditionally, neoadjuvant chemotherapy (NACT) has been used to downstage the tumors and increase the chance for breast-conserving surgery. The pathological complete response (pCR) has been traditionally considering the best predictive marker for the disease recurrence. Patients with residual disease (RD) have a poor prognosis with a high risk of recurrence, and therefore additional chemotherapy was recommended. Therefore it is an important task for clinical researchers to identify markers to predict the individual tumor response to chemotherapy and avoid in patients potentially resistant tumors. Instead, a surgical approach can be used or combined approach with chemotherapy and immunotherapy. It is not clear yet which approach is optimal for those patients with chemotherapy-resistant tumors since there is no clinical data available and no clinical tool that helps predict the individual tumor response. In this study, we examined breast ultrasound(US) images of patients before and after the completion of NACT and correlated with response to chemotherapy. To better understand the biology of resistance to chemotherapy, we also analyzed the gene expression profile of 15 patients with RD after NACT. Methods: In this study, we retrospective analyzed breast US data from 37 Hispanic patients diagnosed with TNBC and treated with NACT. Patients underwent breast US before and after NACT with documentation of clinical complete response (cCR) or clinical residual disease (cRD). Post-operatively, the pathologic response was defined as the absence of tumor cells (pCR) or presence of residual invasive tumor (RD). A multivariable logistic regression model assessed the influence of patient- and tumor-associated covariates as predictors for pCR. Also, we analyzed formalin-fixed paraffin-embedded tumor samples from 15 patients with RD after NACT. Results: Seventeen patients (45.9%) achieved pCR, and twenty (54.1%) had RD after NACT. The most common US findings connected with RD was the deposition of calcium before NACT six (30%) patients. Gene expression analysis of RD samples identified 446 upregulated and 275 downregulated genes. Among commonly upregulated genes related to cancer, we identified GLI1, IGF1, SERPINE1, ATF3, KLK 5; 7, and TUBB2b, and genes belonging to pathways encoding extracellular matrix–related proteins, DNA-damage response proteins, and pathways related to resistance to chemotherapeutic agents such as Taxol. Conclusions: Our data suggested that gene expression profiling in combination with imaging study can be used to identify patients with TNBC potentially resistant to chemotherapy.