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[Molecular cytopathology of lung cancer--prevalence of genetic alterations and their role in the development of molecular biomarkers].

Carcinogenesis of lung cancer proceeds via a complex process that involves multiple genetic abnormalities, which do not necessarily have a linear progression. Genetic alterations include aneuploidy, deletions and amplifications of chromosomal regions, loss of heterozygosity (LOH), microsatellite alterations, point mutations and aberrant promoter methylation. There is considerable effort to use these genetic alterations as molecular biomarkers for early cancer diagnosis applying different approaches. An ideal tumor marker should be highly sensitive, tumor specific, easily to handle and non-cost intensive. While previous studies used screening for mutations, LOH and microsatellite alterations, more recent strategies concentrate on multicolor fluorescence in situ hybridization (FISH) and aberrant promoter methylation. Since in general the genetic alterations are prone to be more extensive in tumor cells as compared to non-tumor cells, methods that provide quantitative data (e.g., methylation specific real-time PCR) are likely to improve specificity. Consequently, molecular biomarkers could constribute to a more accurate risk assessment in carcinogen exposed individuals and early molecular cytologic diagnosis of precancerous lesions and cancers of the lung.

Allelic Imbalance↗

National cancer prevalence estimation in France.

In France, as in several other European countries, prevalence has to be estimated from the modelling of 2 of the 3 basic epidemiological measures of incidence, mortality, and survival. Since, in these countries, follow-up of cancer patients is only made in a few registries, we explored the feasibility of estimating prevalence in the absence of follow-up data. The method, which used only incidence and mortality, was validated on Danish data and applied to France. For this latter country, the estimation procedure is based on the recorded mortality data and an estimate of incidence for the entire country. It is applied to selected sites of cancer, which account for 80% of the estimated incidence. In 1992, the prevalence of patients who had such a diagnosis amounts to 538,000 women and 424, 000 men. The most frequent cancer sites are head and neck, breast, and large bowel. Most of the cancer sites present an increase in prevalence proportion between 1987 and 1992. The larger increases concern breast and prostate cancer.

Adult↗

Hyperinsulinemia, impaired glucose tolerance, and diabetes mellitus in survivors of childhood cancer: prevalence and risk factors.

CONTEXT: Hyperinsulinism and its associated metabolic abnormalities, including diabetes mellitus (DM), have been reported in long-term survivors of childhood cancer, mainly after bone marrow transplant (BMT); however, the predisposing factors are unclear, and early markers have not been identified. METHODS: The prevalence of overweight/obesity, abdominal adiposity and hyperinsulinemia (HI), impaired glucose tolerance (IGT), or DM was examined prospectively in 248 survivors of childhood cancer (36 prepubertal, 88 pubertal, and 124 adult subjects; 67 BMT) at a median of 12.9 yr (2.3-33.6) after diagnosis and compared with healthy controls. Potential risk factors for the development of HI, IGT, or DM were sought. RESULTS: Overweight/obesity was not increased when comparing subjects with controls; however, the prevalence of abdominal adiposity in prepubertal and pubertal subjects was roughly doubled (P < or = 0.04). Fasting insulin concentrations were higher in prepubertal and pubertal subjects compared with their controls (P < 0.001) and were similar in adult and pubertal subjects. HI, IGT, or DM was detected in 39 of 212 (18%) pubertal or adult subjects (23 BMT). Ten of 88 (11%) pubertal and 14 of 124 (11%) adult subjects had IGT/DM (vs. 0 and 4.9% controls, respectively; P < 0.001). Total body irradiation, untreated hypogonadism, and abdominal adiposity emerged as independent risk factors for the development of HI, IGT, or DM in multivariate regression analysis. CONCLUSIONS: The risk factors identified suggest the need for reconsideration of BMT protocols and regular screening of survivors. The increased prevalence of abdominal adiposity among prepubertal subjects, none of whom had developed HI/IGT/DM, suggests that a waist to height ratio greater than 0.5 has potential as a clinical screening tool.

Abdominal Fat↗

CT screening for lung cancer: prevalence and incidence of mediastinal masses.

PURPOSE: To determine the frequency and natural course of mediastinal masses in asymptomatic people at high risk for lung cancer who were undergoing computed tomographic (CT) screening. MATERIALS AND METHODS: Informed consent and institutional review board approval for this HIPAA-compliant study were obtained at each participating institution. All documented mediastinal masses among the 9263 baseline and 11 126 annual repeat screenings performed in the Early Lung Cancer Action Project (ELCAP) and its successor project, the New York ELCAP, were identified. Two radiologists confirmed all cases, identified the location and measured the diameter (average of length and width) of each mass, and reviewed all subsequent CT and clinical and surgical results. The prevalence and incidence of mediastinal masses were then determined. RESULTS: Of the 9263 individuals, 71 had a mediastinal mass seen at baseline screening (prevalence of 0.77%). Of the 71 masses, 41 were thymic, 16 were thyroidal, two were esophageal cancers, six were tracheal-esophageal diverticula, and six were other masses. Among the 11 126 annual repeat screenings, only one new mediastinal mass was identified (incidence of 0.01%). This suggests a long average duration for mediastinal masses in asymptomatic people. Among the 41 thymic masses, five were larger than 3.0 cm in diameter, and all five were resected; of these five, one was a thymic carcinoma and four were noninvasive thymomas. Of the remaining 36 thymic masses, 25 were evaluated at follow-up CT 1 year later: Five had increased in diameter, two had decreased, and 18 remained unchanged. All 16 thyroid masses were due to goiter; none of these were changed at follow-up CT 1 year later. CONCLUSION: Mediastinal masses found in the context of CT screening for lung cancer in asymptomatic people should be approached in a "conservative" manner; this includes thymic masses smaller than 3 cm in diameter, as most of these remain unchanged or even decrease in size.

Adult↗

A systematic review and meta-analysis of radiation-induced oral complications in head and neck cancer: Prevalence and clinical outcomes.

BACKGROUND: Radiation-induced oral complications, notably xerostomia and oral mucositis (OM), are common and debilitating in patients with head and neck cancer (HNC), adversely affecting swallowing, nutritional intake, and overall quality of life (QoL). OBJECTIVES: This review aimed to quantify the prevalence of radiation-induced xerostomia and OM and synthesize their impact on dysphagia and nutritional status among HNC patients undergoing radiotherapy (RT). METHODS: A systematic review and meta-analysis were conducted following PRISMA guidelines. Comprehensive searches were performed in MEDLINE, Scopus, SciFinder, Embase, and PubMed for studies published between January 2019 and December 2025. Data from 51 studies were extracted and synthesized. RESULTS: The pooled prevalence was 85% (95% CI: 81.6-87.9%) for xerostomia and 88.3% (95% CI: 73.9-95.3%) for any-grade OM. Severe OM (Grade 3-4) had a prevalence of 39.5% (95% CI: 23.1-58.8%). These complications were strongly interrelated and significantly associated with dysphagia (69.8%; 95% CI: 53.1-83.7%), malnutrition (66.6%; 95% CI: 37.3-95.9%), and poor QoL (pooled mean QoL score: 64.13/100). Studies employing advanced radiation techniques (e.g., IMRT) demonstrated a lower prevalence of xerostomia (OR&#x202f;=&#x202f;0.58, 95% CI: 0.42-0.80) compared to conventional RT. CONCLUSION: Radiation-induced oral complications (xerostomia & OM) remain prevalent and clinically significant burden in HNC patients, contributing to a cascade of functional impairments and diminished QoL. These findings highlight the need for preventive strategies, symptom management interventions, and the broader adoption of advanced RT techniques. Longitudinal research is warranted to further evaluate long-term outcomes and guide patient-centered care models.

Humans↗

Psychiatric disorder in patients with advanced breast cancer: prevalence and associated factors.

The prevalence of psychiatric disorder and associated factors has been examined in 139 women with advanced breast cancer. Patients completed a self-report assessment of mood, the Hospital Anxiety and Depression Scale (HAD). They were also interviewed to obtain sociodemographic details, UICC performance status and past psychiatric history. Overall, 35 (25%) scored 11 or above (out of a maximum of 21) on either the anxiety or the depression subscales, or both, of the HAD and were therefore probable cases of anxiety and/or depression. These patients are likely to benefit from psychosocial intervention. Clinical anxiety was unrelated to any sociodemographic or disease related factors. Clinical depression was significantly more prevalent amongst patients in the lower socioeconomic classes (P = 0.01) and those with poor performance status (P = 0.007). Depression can be difficult to detect in patients with advanced breast cancer and these factors may be useful indicators to clinicians of patients at high risk of this disorder.

Adult↗

Depression in patients with lung cancer: prevalence and risk factors derived from quality-of-life data.

PURPOSE: To evaluate self-reported depression rates in patients with inoperable lung cancer and to explore demographic, clinical, and quality-of-life (QOL) factors associated with depression and thus identify patients at risk. PATIENTS AND METHODS: Nine hundred eighty-seven patients from three palliative treatment trials conducted by the Medical Research Council Lung Cancer Working Party formed the study sample. 526 patients (53%) had poor prognosis small-cell lung cancer (SCLC) and 461 patients (47%) had good prognosis non-small-cell lung cancer (NSCLC). Hospital Anxiety and Depression Scale data and QOL items from the Rotterdam Symptom Checklist were analyzed, together with relevant demographic and clinical factors. RESULTS: Depression was self-rated in 322 patients (33%) before treatment and persisted in more than 50% of patients. SCLC patients had a three-fold greater prevalence of case depression than those with NSCLC (25% v 9%; P <.0001). An increased rate for women was found for good performance status (PS) patients (PS of 0 or 1) but the sex difference reduced for poor PS patients (PS of 3 or 4) because of increased depression rates for men (chi(2) for trend, P <.0001). Multivariate analysis showed that functional impairment was the most important risk factor; depression increased by 41% for each increment on the impairment scale. Pretreatment physical symptom burden, fatigue, and clinician-rated PS were also independent predictors, but cell type was not. CONCLUSION: Depression is common and persistent in lung cancer patients, especially those with more severe symptoms or functional limitations. Psychologic screening and appropriate intervention is an essential part of palliative care.

Activities of Daily Living↗

An estimate of the prevalence of cancer in India.

Estimates of cancer prevalence may be based on necropsy findings, on clinical and hospital records, on the data contained in cancer registers, or on death registration statistics. All of these sources suffer from certain limitations and are more or less incomplete depending on the locality. Assuming complete records to be available, the authors examine the theoretical relationships between the four sources. On the basis of death registration statistics, estimates are made of cancer prevalence in the Calcutta Corporation area by site, age, and sex. Evidence is presented that the ratio of cancer deaths to deaths from all causes in the Calcutta area may be taken as representative of the country as a whole. By making other assumptions regarding the national death rate and the duration of life with cancer, the authors are able to deduce a figure of approximately 600 000 for the prevalence of cancer in India.

Humans↗

Breast implants following mastectomy in women with early-stage breast cancer: prevalence and impact on survival.

BACKGROUND: Few studies have examined the effect of breast implants after mastectomy on long-term survival in breast cancer patients, despite growing public health concern over potential long-term adverse health effects. METHODS: We analyzed data from the Surveillance, Epidemiology and End Results Breast Implant Surveillance Study conducted in San Francisco-Oakland, in Seattle-Puget Sound, and in Iowa. This population-based, retrospective cohort included women younger than 65 years when diagnosed with early or unstaged first primary breast cancer between 1983 and 1989, treated with mastectomy. The women were followed for a median of 12.4 years (n = 4968). Breast implant usage was validated by medical record review. Cox proportional hazards models were used to estimate hazard rate ratios for survival time until death due to breast cancer or other causes for women with and without breast implants, adjusted for relevant patient and tumor characteristics. RESULTS: Twenty percent of cases received postmastectomy breast implants, with silicone gel-filled implants comprising the most common type. Patients with implants were younger and more likely to have in situ disease than patients not receiving implants. Risks of breast cancer mortality (hazard ratio, 0.54; 95% confidence interval, 0.43-0.67) and nonbreast cancer mortality (hazard ratio, 0.59; 95% confidence interval, 0.41-0.85) were lower in patients with implants than in those patients without implants, following adjustment for age and year of diagnosis, race/ethnicity, stage, tumor grade, histology, and radiation therapy. Implant type did not appear to influence long-term survival. CONCLUSIONS: In a large, population-representative sample, breast implants following mastectomy do not appear to confer any survival disadvantage following early-stage breast cancer in women younger than 65 years old.

Adult↗

Use of complementary/alternative medicine by men diagnosed with prostate cancer: prevalence and characteristics.

OBJECTIVES: To ascertain the prevalence of the use of complementary/alternative medicine (CAM) among a random sample of Ontario (Canadian) men diagnosed with prostate cancer and to explore in what way users of CAM differ from nonusers. METHODS: A questionnaire was mailed to a random sample of 696 men diagnosed with prostate cancer. RESULTS: The final response rate was 78.8%. Almost one third (29.8%) reported using CAM for their prostate cancer care. Natural health products (most commonly vitamin E, saw palmetto, and selenium) were used by 26.5% of the respondents. CAM therapies were used by 17.0% of the men (most commonly dietary changes), and only 9.1% visited CAM practitioners. Three characteristics appear to differentiate CAM users from nonusers. Men who had attended support groups were much more likely to use CAM. Men who had more advanced disease, and those who believed in the efficacy of CAM, but were not concerned about potential adverse effects of CAM, were also more likely to use CAM. CAM use was not related to education, income, or geographic location. CONCLUSIONS: The data suggest that CAM use is no longer a phenomenon restricted to a unique segment of the population that is highly educated and enjoys a high family income. CAM use appears to be more related to other factors such as support group attendance, disease characteristics, and beliefs about CAM. Our findings highlight the need for urologists to ask all their patients about their use of CAM.

Adenocarcinoma↗

The prevalence of cancer: a review of the available data.

AIMS AND BACKGROUND: Cancer prevalence in a population, defined as the proportion - or the number - of people who were diagnosed with a cancer during their lives and are still alive at a given date, is a crucial indicator for heath care planning and resource allocation. Long-term population-based cancer registries (CR) are the appropriate tools to produce prevalence figures, which, however, are scarcely available. This paper contains a review up to 1999 of the published data world-wide (reports and articles) on cancer prevalence: including measured and estimated figures. MATERIALS AND METHODS: Data on cancer prevalence from CRs are available for the Nordic countries, Connecticut, and Italy. In addition, electronic data are available for the European Union (EU). Data for the Nordic countries were first published in the mid-seventies, reporting the prevalence for 1970. The first data from Connecticut were available 10 years later. Estimates for all EU countries were published by the International Agency for Research on Cancer (IARC) in 1997. In Italy, observed and estimated data on the prevalence of respiratory and digestive tract cancer and breast cancer have been published during the nineties, followed by a systematic analysis for all cancers in 1999. By using information obtained from CRs, cancer prevalence data were calculated directly (observed prevalence) by means of incidence and follow-up information on individual cancer patients, or indirectly (estimated prevalence) by means of mathematical models, which generally use epidemiological information at the aggregate level. RESULTS: Cancer prevalence for all cancers combined (proportions per 100,000 inhabitants) showed values of less than 700 in males and less than 800 in females in 1970 (Finland) to over 2,300 in males and over 3,000 in females in 1992 (Italian registries). With few exceptions, in each country and period considered the cancer sites contributing most to cancer prevalence are lung, colon-rectum, prostate and bladder in males, colon-rectum, breast, uterus (both cervix and corpus) and ovary in females. At present, comparison of measurements from different areas is difficult because there exists no standardized mode of presentation. CONCLUSIONS: In spite of their being potentially useful for health care planning, prevalence data have been produced inconsistently and late by cancer registries, at least in comparison with the systematic availability of incidence and survival statistics. The available data can be compared only to a limited extent due to differences in completeness, in the choice of indicators, in the standard populations, and in the frequency of publication. It would be desirable that in the future data will be produced systematically, with a higher level of standardization compared to the past, and, most importantly, on the same geographic and administrative scale as health-care decision-making.

Europe↗

Posttraumatic stress disorder after treatment for breast cancer: prevalence of diagnosis and use of the PTSD Checklist-Civilian Version (PCL-C) as a screening instrument.

The presence of a posttraumatic stress disorder (PTSD) diagnosis in women (n = 82) diagnosed with Stage 0-IIIA breast cancer was assessed 6 to 72 months after cancer therapy. The PTSD Checklist-Civilian Version (PCL-C) and the PTSD module for the Structured Clinical Interview for DSM-IV, Nonpatient Version, PTSD module (SCID-NP-PTSD) were administered in a telephone interview. SCID-NP-PTSD results indicated prevalence rates of 6% and 4% for current and lifetime PTSD, respectively. Use of the recommended cutoff score of 50 on the PCL-C to determine diagnosis of current cancer-related PTSD resulted in a sensitivity of .60 and a specificity of .99 with 2 false-negative diagnoses. In conclusion, PTSD can be precipitated by diagnosis and treatment of breast cancer, and the PCL-C can be a cost-effective screening tool for this disorder.

Adult↗

NAT2 gene polymorphism and sporadic colorectal cancer. Prevalence, tumor stage and prognosis. A preliminary study in 70 patients.

AIM: Theoretically, individuals with a NAT2 rapid acetylator genotype are exposed to a higher risk of developing colorectal cancer. We attempted to study this relationship. MATERIAL AND METHODS: We evaluated a group of 70 patients with sporadic colorectal cancer and 40 controls. We calculated the relative risk for patients homozygous for the normal allele NAT2*5C, NAT2*5A, NAT2*6B, NAT2*7B, for heterozygous patients and for patients homozygous for the mutant allele. RESULTS: We found an increased risk for patients with a rapid acetylator genotype to develop colorectal cancer. Rapid acetylators, homozygous negative or heterozygous for the NAT2*5C, NAT2*5A and NAT2*6B mutations have an increased risk of colorectal cancer compared to homozygous positive patients.The analysis of the NAT2*5C genotype shows that the majority of the cases are at stage pT3 for rapid acetylators, 41 cases (74.54%), compared to slow acetylators, where the majority of cases are at stage pT4, 10 cases (66.66%) (p<0.05). The genotype with a rapid acetylator phenotype of the NAT2*5C, NAT2*5A and NAT2*7B variants was most frequently associated with Dukes stage B. The NAT2*5C, NAT2*5A and NAT2*7B gene variants with a slow acetylator pheno-type were most frequently associated with Dukes stage C. CONCLUSIONS: Rapid acetylators, homozygous negative or heterozygous for the NAT2*5C, NAT2*5A and NAT2*6B mutations have a higher risk of colorectal cancer compared to positive homozygotes. Rapid acetylators have earlier stages of colorectal cancer and a better prognosis than slow acetylators, who are diagnosed in more advanced stages.

Acetylation↗

Esophageal squamous cell cancer in patients with head and neck cancer: Prevalence of human papillomavirus DNA sequences.

An etiologic role for human papillomavirus (HPV) infections in either head and neck (HNC) or esophageal carcinogenesis remains debatable. Patients with head and neck cancer are at high risk for developing a second esophageal squamous cell cancer (ESCC). The aim of our study was to determine whether HPV infections play a role in this multifocal carcinogenesis. Samples from 2 groups of HNC patients were studied: Random esophageal biopsies were collected from the first group of 60 patients who had been screened for asymptomatic ESCC. The second group consisted of 21 patients with pairs of HNC and ESCC. Both the fresh frozen biopsy samples of the first group and the paraffin-embedded specimens of the second group were evaluated for the presence of HPV DNA sequences by PCR amplification, cloning and sequencing. HPV DNA sequences were detected in 66.7% of normal/inflammatory (34/51) and dysplastic and malignant (6/9) esophageal tissues from HNC patients being screened endoscopically. Similarly, in the second group of 21 patients with both HNC and ESCC, HPV DNA sequences were demonstrated in 13 (61.9%) of the HNC biopsies and in 14 (66.7%) of the ESCC biopsies. The prevalence of high-risk-type HPV 16 was low (5/51, 9.8%) in normal/inflammatory esophageal mucosa but higher (10/24, 47.6%) in ESCC. The low-risk HPV 11 was present in 37.3% (19/51) of normal/inflammatory, 66.7% (4/6) of dysplastic and 28.9% (13/45) of the carcinoma samples. The same HPV type was present in only 3/21 pairs of HNC and ESCC samples, suggesting that a clonal expansion from the HNC to a subsequent ESCC, or visa versa, is unlikely. The high prevalence of "low-risk" HPV infections points to the need for studies on possible interactions of these infections with the use of alcohol and tobacco in the pathogenesis of these tumors.

Aged↗

Small hypoattenuating lesions in the liver on single-phase helical CT in preoperative patients with gastric and colorectal cancer: prevalence, significance, and differentiating features.

PURPOSE: The purpose of this study was to determine the prevalence and significance of small low attenuating hepatic lesions (SLAHs) seen on helical CT in preoperative patients with gastric and colorectal cancers and to find differentiating features of benign from malignant SLAH. SUBJECTS AND METHODS: By the retrospective review of preoperative helical CT scans in 1,133 consecutive patients with proved gastric and colorectal cancers, 289 patients (25.5%) with 947 SLAHs (</=15 mm) were selected. Among them, 66 SLAHs in 21 patients without final diagnosis were excluded. The size, margin, shape, attenuation, and enhancement features of the lesions were evaluated. For 200 randomly selected SLAHs, interobserver agreement for each parameter was assessed. RESULTS: Among 881 SLAHs in 268 patients, 693 (78.3%) in 248 patients (92.5%) were benign, and 188 (21.2%) in 30 patients (11.2%) were metastases; 10 patients (3.7%) had both. Among SLAHs in patients who had SLAHs only, 14 lesions (1.6%) in 6 patients (2.2%) were metastases. Benign SLAHs were smaller (6.4 +/- 3.1 mm; P < 0.001) and more frequently had discrete margin (P < 0.001) and markedly low attenuation (P < 0.001) than metastases (9.3 +/- 2.7 mm). Target-enhancement was far more frequent in metastases (64.4%) than benign SLAHs (1.2%; P < 0.001). Excellent interobserver agreement (kappa > 0.60) was found for all parameters in SLAHs larger than 5 mm. CONCLUSION: The prevalence (25.5%) of SLAH on helical CT was higher than that reported on conventional CT; however, metastases only presenting as SLAH were rare (2.2%). For SLAHs larger than 5 mm, careful analysis of CT findings can be helpful to differentiate benign from malignant SLAH.

Adult↗

Supraclavicular nodal relapse of breast cancer: prevalence, palliation, and prognosis.

PURPOSE: To determine the frequency, palliative effects of radiotherapy (RT) and survival of patients developing supraclavicular nodal relapse (SNR) after definitive surgery for non-disseminated breast cancer (BCa). METHODS: A retrospective study of individuals treated by breast conserving surgery or modified radical mastectomy for Stage I to III BCa at a single institution during a 17-year period (1980-96) was undertaken. RESULTS: Of the 536 patients studied, 22 (4%) developed SNR. Among the seven symptomatic women, the complete subjective response rate after RT was 71%. Of the 18 evaluable patients with manifest SNRs, tumor regression was complete in 12 (66.6%), partial in one (5.6%), and absent in five (27.8%). The overall median survival was 11.5 months; five patients (23%) survived for at least two years. CONCLUSION: Supraclavicular nodal relapse in breast cancer patients occurs infrequently. The application of radiotherapy for palliation of SNR was fully justified by the perceived results even though long-term survival was not often observed.

Aged↗

Genomic profiling by circulating tumor DNA in patients with hormone receptor-positive/HER2-negative advanced breast cancer: Prevalence of actionable mutations across treatment lines.

INTRODUCTION: Plasma next-generation sequencing (NGS) is endorsed by ESMO as an alternative to tissue testing in advanced hormone receptor-positive, HER2-negative metastatic breast cancer (HR+/HER2- mBC), particularly after progression on endocrine therapy plus CDK4/6 inhibitors. However, prospective real-world data across distinct therapeutic contexts remain limited. PATIENTS AND METHODS: In this prospective observational study conducted within a nationwide cancer network in Brazil, centralized plasma NGS, and tissue NGS when available, was performed in two independent cohorts: prior to initiation of first-line endocrine therapy in the metastatic setting (Cohort 1) and at progression on endocrine therapy plus a CDK4/6 inhibitor (Cohort 2). The primary objective was to evaluate plasma-detected ESR1 mutation prevalence across these therapeutic contexts, and secondarily to assess other actionable drivers detected by plasma or tissue NGS. RESULTS: Among 86 collected plasma samples, 72 (84%) had evaluable NGS results (Cohort 1, n = 37; Cohort 2, n = 35). ESR1 mutations were identified in 18.9% of patients in Cohort 1 and 40.0% in Cohort 2, mostly at low variant allele fractions (<0.5%), corresponding to an absolute prevalence difference of 21.1 percentage points (95% CI, -0.2 to 40.3; P value=0.07). When considering any actionable alteration detected by plasma, including ESR1, PIK3CA, AKT1, PTEN, BRCA1, BRCA2, and ERBB2, prevalences were 43.2% and 68.6%, respectively (P value=0.04). Only four patients had ESR1 mutations identified in tissue, three in metastatic samples. Plasma-tissue concordance was higher for PIK3CA mutations (85.1%). CONCLUSION: Plasma NGS identified clinically meaningful ESR1 mutation rates across both contexts, supporting guideline-endorsed plasma-based genomic profiling in HR+/HER2- mBC.

CDK4/6 inhibitors↗

Occult central nervous system involvement in patients with metastatic breast cancer: prevalence, predictive factors and impact on overall survival.

BACKGROUND: As screening central nervous system (CNS) imaging is not routinely performed, the incidence and clinical relevance of occult CNS metastases in advanced breast cancer is unknown. PATIENTS AND METHODS: All patients screened for participation in one of four clinical trials were included; each of the trials excluded patients with known CNS involvement and required screening CNS imaging. A cohort of breast cancer patients with symptomatic CNS metastases was identified from the IU Cancer Center Tumor Registry for comparison. RESULTS: From November 1998 to August 2001, 155 screening imaging studies were performed. Twenty-three patients (14.8%) had occult CNS metastases. HER-2 overexpression (P = 0.02) and number of metastatic sites (P = 0.03) were predictive of CNS involvement by multivariate analysis. Median survival from time of metastasis (1.78 versus 2.76 years; P <0.0001) and from screening (4.67 versus 10.4 months; P = 0.0013) was shorter in patients with than without occult CNS metastasis. Survival among patients with occult CNS metastasis was similar to patients with symptomatic CNS disease. CONCLUSIONS: Patients with CNS involvement, whether occult or symptomatic, have an impaired survival. Occult CNS metastasis is relatively common, but impact on survival of treating occult CNS disease in patients with progressive systemic metastases is questionable.

Adult↗