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PURPOSE: Survivors of adolescent and young adult (AYA) cancer face significant psychological distress and encounter barriers accessing mental health care. However, limited research exists on psychological health among lesbian, gay, and bisexual (LGB) survivors of AYA cancer, particularly in comparison with heterosexual survivors and LGB individuals without a history of cancer. METHODS: Using the National Health Interview Survey (2013-2018), we identified LGB survivors of AYA cancer, LGB individuals without a history of cancer, and heterosexual survivors of AYA cancer. Sociodemographic, chronic health conditions, modifiable factors (such as smoking and alcohol use), and psychological outcomes were assessed using chi-square tests. Logistic regression models, adjusted for survey weights, evaluated the odds of psychological distress by cancer status after accounting for covariates. Interactions between variables and cancer status were explored. RESULTS: The study comprised 145 LGB survivors, 1450 LGB individuals without a history of cancer, and 1450 heterosexual survivors. Compared to heterosexual survivors, LGB survivors were more likely to report severe distress (aOR = 2.26, p = 0.021) and had higher odds of reporting a mental health care visit (aOR = 1.98, p = 0.003). Odds of severe distress (aOR = 1.36, p = 0.36) and reporting a mental health care visit (aOR = 1.27, p = 0.29) were similar between LGB survivors and LGB individuals without a history of cancer. While 47.8% of LGB survivors reported moderate/severe distress, only 29.7% reported a mental health care visit. CONCLUSION: A history of cancer during the AYA years is associated higher odds of severe psychological distress among LGB survivors compared to heterosexual survivors. However, many LGB survivors with psychological distress have not accessed mental health care.
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Supervivientes de Cáncer , Distrés Psicológico , Minorías Sexuales y de Género , Humanos , Femenino , Masculino , Adulto Joven , Adolescente , Supervivientes de Cáncer/psicología , Supervivientes de Cáncer/estadística & datos numéricos , Minorías Sexuales y de Género/psicología , Minorías Sexuales y de Género/estadística & datos numéricos , Adulto , Neoplasias/psicología , Aceptación de la Atención de Salud/estadística & datos numéricos , Aceptación de la Atención de Salud/psicología , Servicios de Salud Mental/estadística & datos numéricos , Estrés Psicológico/epidemiologíaRESUMEN
Survivors of adolescent and young adult (AYA, age 15-39 years at diagnosis) cancer are a growing population with the potential to live for many decades after treatment completion. Survivors of AYA cancer are at risk for adverse long-term outcomes including chronic conditions, secondary cancers, impaired fertility, poor psychosocial health and health behaviors, and financial toxicity. Further, survivors of AYA cancer from racially minoritized and low socio-economic status populations experience disparities in these outcomes, including lower long-term survival. Despite these known risks, most survivors of AYA cancer do not receive routine survivorship follow-up care, and research on delivering high-quality, evidence-based survivorship care to these patients is lacking. The need for survivorship care was initially advanced in 2006 by the Institute of Medicine. In 2019, the Quality of Cancer Survivorship Care Framework (QCSCF) was developed to provide an evidence-based framework to define key components of optimal survivorship care. In this commentary focused on survivors of AYA cancer, we apply the QCSCF framework to describe models of care that can be adapted for their unique needs, multi-level factors limiting equitable access to care, and opportunities to address these factors to improve short- and long-term outcomes in this vulnerable population.
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PURPOSE: Childhood cancer survivors are at risk for cardiac dysfunction and impaired physical performance, though underlying cellular mechanisms are not well studied. In this cross-sectional study, we examined the association between peripheral blood mitochondrial DNA copy number (mtDNA-CN, a proxy for mitochondrial function) and markers of performance impairment and cardiac dysfunction. METHODS: Whole-genome sequencing, validated by quantitative polymerase chain reaction, was used to estimate mtDNA-CN in 1720 adult survivors of childhood cancer (48.5% female; mean age = 30.7 years, standard deviation (SD) = 9.0). Multivariable logistic regression was performed to evaluate the associations between mtDNA-CN and exercise intolerance, walking inefficiency, and abnormal global longitudinal strain (GLS), adjusting for treatment exposures, age, sex, and race and ethnicity. RESULTS: The prevalence of exercise intolerance, walking inefficiency, and abnormal GLS among survivors was 25.7%, 10.7%, and 31.7%, respectively. Each SD increase of mtDNA-CN was associated with decreased odds of abnormal GLS (adjusted odds ratio (OR) = 0.88, p = 0.04) but was not associated with exercise intolerance (OR = 1.02, p = 0.76) or walking inefficiency (OR = 1.06, p = 0.46). Alkylating agent exposure was associated with increased odds of exercise intolerance (OR = 2.25, p < 0.0001), walking inefficiency (OR = 2.37, p < 0.0001), and abnormal GLS (OR = 1.78, p = 0.0002). CONCLUSIONS: Increased mtDNA-CN is associated with decreased odds of abnormal cardiac function in childhood cancer survivors. IMPLICATIONS FOR CANCER SURVIVORS: These findings demonstrate a potential role for mtDNA-CN as a biomarker of early cardiac dysfunction in this population.
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Supervivientes de Cáncer , ADN Mitocondrial , Neoplasias , Caminata , Humanos , Femenino , Masculino , Supervivientes de Cáncer/estadística & datos numéricos , Adulto , Estudios Transversales , Neoplasias/genética , ADN Mitocondrial/genética , Variaciones en el Número de Copia de ADN , Adulto Joven , Tolerancia al Ejercicio , Niño , Adolescente , Mitocondrias , Cardiopatías/etiología , Cardiopatías/genéticaRESUMEN
BACKGROUND: Survivors of adolescent and young adult (AYA) cancer experience significant psychological distress and encounter barriers to accessing mental health care. Few studies have investigated racial/ethnic disparities in psychological health outcomes among AYA survivors, and none have compared outcomes within a racially minoritized population. METHODS: National Health Interview Survey data (2010-2018) were analyzed that identified non-Hispanic Black (hereafter, Black) survivors of AYA cancer and age- and sex-matched Black noncancer controls. Sociodemographic factors, chronic health conditions, modifiable behaviors (smoking and alcohol use), and psychological outcomes were assessed with χ2 tests. Logistic regression models, adjusted for survey weights, were used to evaluate the odds of psychological distress by cancer status after adjusting for covariates. Interactions between variables and cancer status were investigated. RESULTS: The study included 334 Black survivors of AYA cancer and 3340 Black controls. Compared to controls, survivors were more likely to report moderate/severe distress (odds ratio [OR], 1.64; p < .001), use mental health care (OR, 1.53; p = .027), report an inability to afford mental health care (OR, 3.82; p < .001), and use medication for anxiety and/or depression (OR, 2.16; p = .001). Forty-one percent of survivors reported moderate/severe distress, and only 15% used mental health care. Among survivors, ages 18-39 years (vs. 40-64 years) and current smoking (vs. never smoking) were associated with the presence of moderate/severe distress. Among survivors with distress, high poverty status was associated with reduced utilization of mental health care. CONCLUSIONS: A cancer diagnosis for a Black AYA is associated with greater psychological distress within an already vulnerable population.
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Negro o Afroamericano , Supervivientes de Cáncer , Distrés Psicológico , Humanos , Femenino , Masculino , Adulto Joven , Adolescente , Supervivientes de Cáncer/psicología , Supervivientes de Cáncer/estadística & datos numéricos , Adulto , Negro o Afroamericano/psicología , Negro o Afroamericano/estadística & datos numéricos , Neoplasias/psicología , Neoplasias/terapia , Neoplasias/etnología , Aceptación de la Atención de Salud/estadística & datos numéricos , Estrés Psicológico/epidemiología , Servicios de Salud Mental/estadística & datos numéricosRESUMEN
Purpose: Childhood, adolescent, and young adult (CAYA) cancer survivors (age 0-39 years at diagnosis) are at increased risk of cardiovascular disease (CVD). Family history of early heart disease increases the risk of CVD in the general population; however, it is unknown whether this association is seen in CAYA cancer survivors. Methods: Self-report data from the National Health and Nutrition Examination Survey (2005-2018) were used to identify CAYA survivors (>5 years post-diagnosis). The risk of CVD based on family history status (parent or sibling with a diagnosis of heart attack or angina before age 50 years), personal sociodemographic factors, personal medical history factors, and personal behavioral risk factors was determined using logistic regression models. Results: Included were 95 CAYA survivors with CVD and 491 CAYA survivors without CVD. The odds of CVD were significantly higher in survivors with a first-degree family history of early heart disease (odds ratio [OR]: 2.06, 95% confidence interval [CI]: 1.14-3.74). A history of diabetes (OR: 2.61, 95% CI: 1.41-4.84), hypertension (OR: 1.81, 95% CI: 1.04-3.16), and any smoking (OR: 2.19, 95% CI: 1.19-4.02) was also associated with higher odds of CVD in CAYA survivors. Reporting any physical activity in the past month was associated with lower odds (OR: 0.54, 95% CI: 0.30-0.97) of CVD. Conclusions: Family history of early heart disease was associated with increased odds of CVD in CAYA cancer survivors. Obtaining complete and accurate family history information is important both at time of diagnosis and throughout follow-up.
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Supervivientes de Cáncer , Enfermedades Cardiovasculares , Humanos , Masculino , Femenino , Adolescente , Supervivientes de Cáncer/estadística & datos numéricos , Adulto , Adulto Joven , Enfermedades Cardiovasculares/epidemiología , Niño , Preescolar , Factores de Riesgo , Lactante , Neoplasias/complicaciones , Neoplasias/epidemiología , Recién NacidoRESUMEN
Purpose: While there are known disparities in socioeconomic status (SES) and health outcomes among racially and ethnically minoritized adolescent and young adult (AYA; ages 15-39 years at diagnosis) cancer survivors compared with White survivors, outcomes in the Asian survivor population are understudied. To better understand the association of an AYA cancer diagnosis with SES and health outcomes within a minoritized population, the current study makes comparisons between individuals of the same race or ethnicity with and without a history of AYA cancer. Methods: Non-Hispanic, Asian AYA cancer survivors and non-Hispanic, Asian age- and sex-matched controls were identified from self-reported data in the National Health Interview Survey (2009-2020). Prevalence of chronic health conditions and socioeconomic factors were compared between groups using chi-square tests. Odds of chronic conditions by SES factors were determined within and between survivors and controls using logistic regression methods. Results: One hundred and thirty-one survivors and 1310 controls were included. Survivors were less likely to be married compared with controls; however, there were no differences in other SES factors examined. Survivors had higher odds of at least one chronic condition diagnosis (odds ratio = 4.17, p < 0.001) compared with controls. Of the chronic conditions assessed, survivors had higher odds of arthritis, pulmonary disease, and hypertension compared with controls. Conclusions: Asian AYA cancer survivors are at increased risk of chronic health conditions compared with Asian individuals without a cancer history. Culturally adapted targeted interventions are needed to improve health outcomes for this population.
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Neoplasias , Humanos , Adolescente , Adulto Joven , Neoplasias/diagnóstico , Sobrevivientes , Clase Social , Etnicidad , Enfermedad CrónicaRESUMEN
BACKGROUND: In the general population, individuals with minoritized sexual orientation and gender identity have a higher burden of chronic health conditions than heterosexual individuals. However, the extent to which sexual orientation is associated with excess burden of chronic conditions in adolescent and young adult cancer survivors (AYACS) is unknown. METHODS: Lesbian, gay, and bisexual (LGB) AYACSs, LGB individuals without a history of cancer, and heterosexual AYACSs were identified by self-reported data from the cross-sectional National Health Interview Survey (2013-2020). Socioeconomic factors and the prevalence of chronic health conditions were compared between groups using χ2 tests. Logistic regression methods were used to determine the odds of chronic conditions by socioeconomic factors within and between survivor and comparison groups. RESULTS: One hundred seventy LGB cancer survivors, 1700 LGB individuals without a history of cancer, and 1700 heterosexual cancer survivors were included. Compared with heterosexual survivors, LGB survivors were less likely to be married (p = .001) and more likely to have never been married (p < .001). LGB survivors were more likely to have incomes between 100% and 200% of the federal poverty level than LGB individuals without a history of cancer (p = .012) and heterosexual survivors (p = .021) and were less likely to report incomes >200% the federal poverty level. LGB survivors had higher odds of chronic health conditions than LGB individuals without a history of cancer (odds ratio, 2.45; p < .001) and heterosexual survivors (odds ratio, 2.16; p = .003). CONCLUSIONS: LGB AYACSs are at increased risk of having chronic health conditions compared with both LGB individuals without a history of cancer and heterosexual AYACSs.
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Neoplasias , Minorías Sexuales y de Género , Humanos , Adolescente , Adulto Joven , Femenino , Masculino , Estudios Transversales , Identidad de Género , Bisexualidad , Conducta Sexual , Sobrevivientes , Enfermedad Crónica , Neoplasias/epidemiologíaRESUMEN
PURPOSE: Survivors of adolescent and young adult (AYA) cancer experience psychological distress and insufficient access to mental health care. Few studies have investigated racial/ethnic disparities in psychological health outcomes in this population. This study compared psychological distress, mental health care use, and inability to afford mental health care between Hispanic/Latino survivors of AYA cancer and Hispanic/Latino controls. METHODS: The National Health Interview Survey data (2010-2018) were analyzed to identify Hispanic/Latino survivors of AYA cancer and Hispanic/Latino age- and sex-matched non-cancer controls. Sociodemographic, chronic health, modifiable factors, and psychological outcomes were compared using chi-square tests. Logistic regression models with survey weights were used to assess the log-odds of psychological distress in relation to covariates, along with the cancer group. Interactions were evaluated between each variable and cancer group. RESULTS: The study included 370 Hispanic/Latino survivors of AYA cancer (mean time since diagnosis = 12.34 years) and 3700 Hispanic/Latino controls. Compared to controls, survivors were more likely to report moderate/severe distress (OR = 2.23, p < 0.001), use of mental health care (OR = 2.11, p < 0.001) and inability to afford mental health care (OR = 3.05, p < 0.001). Forty-one percent of survivors reported moderate/severe distress and only 16% utilized mental health care. Among survivors, having more than two chronic health conditions and public insurance (compared to private insurance) were associated with the presence of moderate/severe distress. Among survivors experiencing moderate/severe distress, lack of insurance was associated with decreased utilization of mental health care. CONCLUSIONS: Having cancer as an AYA may exacerbate disparities in psychological health within the Hispanic/Latino population.
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Supervivientes de Cáncer , Servicios de Salud Mental , Neoplasias , Aceptación de la Atención de Salud , Distrés Psicológico , Adolescente , Humanos , Adulto Joven , Hispánicos o Latinos/psicología , Neoplasias/terapia , Neoplasias/psicología , Supervivientes de Cáncer/psicologíaRESUMEN
BACKGROUND: The US population of adolescent and young adult (age 15-39 years at diagnosis) cancer survivors is growing. Previous studies have identified racial and ethnic disparities in survival and health outcomes in racially minoritized survivors, including Black survivors, compared with White survivors. However, comparisons should be made between those of the same race or ethnicity with and without a history of AYA cancer to fully understand the association of a cancer diagnosis with socioeconomic status (SES) and health outcomes within a minoritized population. METHODS: Non-Hispanic Black AYA cancer survivors and non-Hispanic Black age- and sex-matched controls were identified from self-reported data from the National Health Interview Survey (2009-2018). SES factors and chronic health conditions prevalence were compared between survivors and controls using chi-square tests. Survey-weighted logistic regression models were used to determine odds of chronic conditions by SES factors within and between survivors and controls. Interactions between each variable and cancer group were assessed. RESULTS: A total of 445 survivors and 4450 controls were included. Survivors were less likely than controls to be married, have family income >45K/year, have completed a bachelor's degree or higher, and have private insurance. Survivors had higher odds than controls of having at least one (odds ratio (OR): 7.02, p<0.001) and ≥3 (OR: 4.44, p<0.001) chronic conditions. Survivors had higher odds of each chronic condition assessed including cardiovascular disease, diabetes, and hypertension. Survivors had higher odds of having chronic health conditions compared with controls across all SES variables. CONCLUSIONS: A cancer diagnosis during adolescence and young adulthood is associated with poor SES outcomes and increased odds of comorbidities within the Black population, thus further exacerbating existing disparities. IMPLICATIONS FOR CANCER SURVIVORS: Black AYA cancer survivors have a very high risk of developing chronic health conditions after cancer treatment and interventions are needed to improve long-term health outcomes for this population.
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PURPOSE: There is a growing population of survivors of adolescent and young adult (AYA) cancers (age 15-39 years at diagnosis). Studies in AYA cancer survivors have identified racial and ethnic disparities in long-term outcomes. To understand the extent to which a cancer diagnosis exacerbates pre-existent health disparities within a minoritized population, comparisons should be made to those of the same race or ethnicity without a cancer history. METHODS: Self-reported data from the National Health Interview Survey (2009-2018) were used to identify Hispanic AYA cancer survivors and Hispanic age- and sex-matched controls. SES factors (marital status, income, education, insurance) and prevalence of chronic health conditions were compared between groups using chi-square tests. The log-odds of chronic conditions were modeled by survey-weighted logistic regression with relation to age at survey, sex, marital status, education, family income, and cancer group (control versus cancer), together with interactions between each variable and cancer group (survivors vs. controls). RESULTS: Five hundred thirty-nine survivors and 5390 controls were included. Compared with controls, survivors were less likely to be married and have family income > 45 K/year, and more likely to be insured and have completed some college. Survivors had higher odds than controls of chronic health conditions (odds ratio (OR): 7.39, p < 0.001 for at least 1 and OR: 4.78, p < 0.001 for 3 or more) including cardiovascular disease, diabetes, and hypertension. Female sex, higher educational attainment, and public insurance were each associated with increased odds of chronic conditions in Hispanic AYA survivors. CONCLUSIONS: An AYA cancer diagnosis is associated with poor SES outcomes and increased odds of comorbidities within the Hispanic population. IMPLICATIONS FOR CANCER SURVIVORS: Cancer history can exacerbate underlying health disparities. Screening for chronic conditions is especially important in minoritized populations.
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BACKGROUND: Advancements in treatment and supportive care have led to improved survival for adolescents and young adults (AYAs) with cancer; however, a subset of those diagnosed remain at risk for early death (within 2 months of diagnosis). Factors that place AYAs at increased risk of early death have not been well studied. METHODS: The Surveillance, Epidemiology, and End Results registry was used to assess risk of early death in AYAs with hematologic malignancies, central nervous system tumors, and solid tumors. Associations between age at diagnosis, sex, race, ethnicity, socioeconomic status, insurance status, rurality, and early death were assessed. RESULTS: A total of 268â501 AYAs diagnosed between 2000 and 2016 were included. Early death percentage was highest in patients diagnosed with hematologic malignancies (3.1%, 95% confidence interval [CI] = 2.9% to 3.2%), followed by central nervous system tumors (2.5%, 95% CI = 2.3% to 2.8%), and solid tumors (1.0%, 95% CI = 0.9% to 1.0%). Age at diagnosis, race, ethnicity, lower socioeconomic status, and insurance status were associated with increased risk of early death in each of the cancer types. For AYAs with hematologic malignancies and solid tumors, risk of early death decreased statistically significantly over time. CONCLUSIONS: A subset of AYAs with cancer remains at risk for early death. In addition to cancer type, sociodemographic factors also affect risk of early death. A better understanding of the interplay of factors related to cancer type, treatment, and health systems that place certain AYA subsets at higher risk for early death is needed to address these disparities and improve outcomes.
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Neoplasias del Sistema Nervioso Central , Neoplasias Hematológicas , Neoplasias , Humanos , Adolescente , Adulto Joven , Neoplasias/epidemiología , Neoplasias/terapia , Etnicidad , Clase Social , Neoplasias del Sistema Nervioso Central/epidemiología , Neoplasias del Sistema Nervioso Central/terapia , Sistema de RegistrosRESUMEN
PURPOSE OF REVIEW: There is a growing population of adolescent and young adult (AYA, ages 15-39âyears) cancer patients and survivors, and the field of AYA oncology is rapidly evolving. Despite an increased focus on survival and quality of life for AYAs, gaps in knowledge remain. The current review focuses on what is known across several domains unique to AYA cancer care as well as areas of improvement and future directions in research and intervention. RECENT FINDINGS: Due to the developmental stages included in the AYA age range, a cancer diagnosis and treatment can affect relationships, education and employment, finances, and long-term health differently than diagnoses in younger or older populations. Recent studies that have focused on these unique aspects of AYA cancer care, including health-related quality of life (HRQoL), fertility, financial toxicity, barriers to clinical trial enrollment, genetic predisposition, and survivorship care are included in the current review. SUMMARY: Although studies have described many of the challenges faced by AYAs across the cancer continuum from diagnosis to survivorship, more work is needed, particularly in systematically measuring HRQoL, eliminating barriers to clinical trial enrollment, addressing financial toxicity, and increasing access to fertility preservation and high-quality survivorship care.
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Preservación de la Fertilidad , Neoplasias , Humanos , Adolescente , Adulto Joven , Adulto , Calidad de Vida , Neoplasias/diagnóstico , Neoplasias/terapia , SobrevivientesRESUMEN
BACKGROUND: There is a growing population of adolescent and young adult (AYA) cancer survivors (ages 15-39 years), and they have an elevated risk of developing cardiovascular disease (CVD). Little is known about the contribution of sociodemographic and modifiable factors to the risk of CVD in AYA survivors and whether these factors differentially modulate their risk compared with that in the general population. The current study sought to fill these gaps. METHODS: Self-reported data from the US National Health Interview Survey (2009-2018) were used to identify AYA cancer survivors (≥2 years postdiagnosis) and age-matched and sex-matched controls. The risk of CVD based on sociodemographic factors (sex, race/ethnicity, income, education) and modifiable risk factors (diabetes, body mass index, smoking, physical activity) was determined within and between survivors and controls using logistic regression models. RESULTS: In total, 4766 AYA cancer survivors and 47,660 controls were included. The odds of CVD were significantly higher in survivors than in controls by sex, race/ethnicity, income, education, smoking status, and physical activity. An annual household income <$50,000 disproportionately increased the odds of CVD in survivors. One third of survivors reported no moderate-to-vigorous-intensity physical activity (MVPA). Performing any MVPA lowered the odds of CVD in survivors (odds ratio, 0.61; 95% CI, 0.450.81) and controls (odds ratio, 0.68; 95% CI, 0.61-0.77). CONCLUSIONS: Sociodemographic and modifiable risk factors increased the odds of CVD in AYA survivors, in some cases disproportionately, compared with controls. Understanding health behavior trajectories among different sociodemographic populations is needed to identify opportunities to lower the risk of CVD. Performing any MVPA is particularly important for AYA survivors.
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Supervivientes de Cáncer , Enfermedades Cardiovasculares , Neoplasias , Humanos , Adolescente , Adulto Joven , Adulto , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/etiología , Factores de Riesgo , Sobrevivientes , Fumar/epidemiología , Neoplasias/epidemiologíaRESUMEN
PURPOSE: There is a growing population of adolescent and young adult (AYA, ages 15-39 at diagnosis) cancer survivors at heightened risk of chronic conditions. Moderate to vigorous physical activity level (MVPA) is an important modifiable factor associated with improved cardiovascular health. Little is known about the association of sociodemographic factors with MVPA in AYA survivors. METHODS: Self-reported data from the National Health Interview Survey (2009-2018) were used to identify AYA cancer survivors (at least 2 years post-diagnosis) and age- and sex-matched controls. MVPA level based on sociodemographic (sex, race and ethnicity, income, education), medical (heart disease, stroke, and diabetes), and cardiovascular risk factors (BMI and smoking) was determined within and between survivors and controls using multivariable linear regression models. RESULTS: A total of 4766 AYA cancer survivors and 47,660 controls were included. Less than half of survivors (41.9%) and controls (43.2%) met MVPA guideline recommendations, and one-third of survivors (33.4%) reported no MVPA. Black race was associated with reduced MVPA compared with White race (ratio: 0.58 (95% CI: 0.37-0.90). Household income < $50,000/year, education < high school, diagnoses of diabetes or heart disease, and current smoking were all significantly associated with reduced MVPA in AYA survivors. There were no differences in MVPA between survivors and controls by sociodemographic factors, medical history, and cardiovascular risk factors. CONCLUSIONS AND IMPLICATIONS FOR CANCER SURVIVORS: We found disparities in MVPA in AYA cancer survivors by sociodemographic, medical, and cardiovascular risk factors. Understanding trajectories of MVPA among different sociodemographic populations is needed to identify opportunities for intervention.
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Supervivientes de Cáncer , Cardiopatías , Neoplasias , Humanos , Adulto Joven , Adolescente , Ejercicio Físico , Sobrevivientes , Fumar/epidemiología , Neoplasias/epidemiologíaRESUMEN
Background As utilization of clinical exome sequencing (ES) has expanded, criteria for evaluating the diagnostic weight of incidentally identified variants are critical to guide clinicians and researchers. This is particularly important in genes associated with dilated cardiomyopathy (DCM), which can cause heart failure and sudden death. We sought to compare the frequency and distribution of incidentally identified variants in DCM-associated genes between a clinical referral cohort with those in control and known case cohorts to determine the likelihood of pathogenicity among those undergoing genetic testing for non-DCM indications. Methods and Results A total of 39 rare, non-TTN DCM-associated genes were identified and evaluated from a clinical ES testing referral cohort (n=14 005, Baylor Genetic Laboratories) and compared with a DCM case cohort (n=9442) as well as a control cohort of population variants (n=141 456) derived from the gnomAD database. Variant frequencies in each cohort were compared. Signal-to-noise ratios were calculated comparing the DCM and ES cohort with the gnomAD cohort. The likely pathogenic/pathogenic variant yield in the DCM cohort (8.2%) was significantly higher than in the ES cohort (1.9%). Based on signal-to-noise and correlation analysis, incidental variants found in FLNC, RBM20, MYH6, DSP, ABCC9, JPH2, and NEXN had the greatest chance of being DCM-associated. Conclusions The distribution of pathogenic variants between the ES cohort and the DCM case cohort was gene specific, and variants found in the ES cohort were similar to variants found in the control cohort. Incidentally identified variants in specific genes are more associated with DCM than others.
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Cardiomiopatía Dilatada , Cardiomiopatía Dilatada/diagnóstico , Cardiomiopatía Dilatada/genética , Exoma , Pruebas Genéticas/métodos , Humanos , Virulencia , Secuenciación del ExomaRESUMEN
BACKGROUND: There is a growing population of adolescent and young adult (AYA, age 15-39 years) acute leukemia survivors in whom long-term mortality outcomes are largely unknown. METHODS: The current study utilized the Surveillance, Epidemiology, and End Results (SEER) registry to assess long-term outcomes of AYA acute leukemia 5-year survivors. The impact of diagnosis age, sex, race/ethnicity, socioeconomic status, and decade of diagnosis on long-term survival were assessed utilizing an accelerated failure time model. RESULTS: A total of 1,938 AYA acute lymphoblastic leukemia (ALL) and 2,350 AYA acute myeloid leukemia (AML) survivors diagnosed between 1980 and 2009 were included with a median follow-up of 12.3 and 12.7 years, respectively. Ten-year survival for ALL and AML survivors was 87% and 89%, respectively, and 99% for the general population. Survival for AYA leukemia survivors remained below that of the age-adjusted general population at up to 30 years of follow-up. Primary cancer mortality was the most common cause of death in early survivorship with noncancer causes of death becoming more prevalent in later decades of follow-up. Male AML survivors had significantly worse survival than females (survival time ratio: 0.61, 95% confidence interval: 0.45-0.82). CONCLUSIONS: AYA leukemia survivors have higher mortality rates than the general population that persist for decades after diagnosis. IMPACT: While there have been improvements in late mortality, long-term survival for AYA leukemia survivors remains below that of the general population. Studies investigating risk factors for mortality and disparities in late effects among long-term AYA leukemia survivors are needed.
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Leucemia Mieloide Aguda , Sobrevivientes , Adolescente , Adulto , Etnicidad , Femenino , Humanos , Leucemia Mieloide Aguda/epidemiología , Leucemia Mieloide Aguda/terapia , Masculino , Factores de Riesgo , Clase Social , Adulto JovenRESUMEN
Background: Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy and can predispose individuals to sudden death. Most pediatric HCM patients host a known pathogenic variant in a sarcomeric gene. With the increase in exome sequencing (ES) in clinical settings, incidental variants in HCM-associated genes are being identified more frequently. Diagnostic interpretation of incidental variants is crucial to enhance clinical patient management. We sought to use amino acid-level signal-to-noise (S:N) analysis to establish pathogenic hotspots in sarcomeric HCM-associated genes as well as to refine the 2015 American College of Medical Genetics (ACMG) criteria to predict incidental variant pathogenicity. Methods and Results: Incidental variants in HCM genes (MYBPC3, MYH7, MYL2, MYL3, ACTC1, TPM1, TNNT2, TNNI3, and TNNC1) were obtained from a clinical ES referral database (Baylor Genetics) and compared to rare population variants (gnomAD) and variants from HCM literature cohort studies. A subset of the ES cohort was clinically evaluated at Texas Children's Hospital. We compared the frequency of ES and HCM variants at specific amino acid locations in coding regions to rare variants (MAF < 0.0001) in gnomAD. S:N ratios were calculated at the gene- and amino acid-level to identify pathogenic hotspots. ES cohort variants were re-classified using ACMG criteria with S:N analysis as a correlate for PM1 criteria, which reduced the burden of variants of uncertain significance. In the clinical validation cohort, the majority of probands with cardiomyopathy or family history hosted likely pathogenic or pathogenic variants. Conclusions: Incidental variants in HCM-associated genes were common among clinical ES referrals, although the majority were not disease-associated. Leveraging amino acid-level S:N as a clinical tool may improve the diagnostic discriminatory ability of ACMG criteria by identifying pathogenic hotspots.
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The majority of childhood cancer patients survive well into adulthood, but remain at risk for psychological late effects that can impact overall health and quality of life. The current narrative review summarizes the literature on psychological late effects, including anxiety, depression, psychological distress, post-traumatic stress disorder, suicidality, psychoactive medication use, and post-traumatic growth in survivors of childhood cancers. While results were mixed, many studies demonstrated that psychological symptoms occurred at levels higher than would be expected in the general population. Treatment, environmental, and behavioral risk factors, as well as symptom onset and trajectory merit further investigation.
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Supervivientes de Cáncer , Neoplasias , Crecimiento Psicológico Postraumático , Trastornos por Estrés Postraumático , Adolescente , Adulto , Ansiedad/etiología , Niño , Depresión/psicología , Humanos , Neoplasias/psicología , Calidad de Vida/psicología , Trastornos por Estrés Postraumático/psicología , Estrés Psicológico/psicología , Sobrevivientes/psicología , Adulto JovenRESUMEN
OBJECTIVES: There is a paucity of research on the impact of cancer treatment on the health-related quality of life (HRQOL) of adolescent and young adult (AYA) patients with cancer. Patient-reported outcomes (PROs) are self-report measures used to assess HRQOL and symptom burden. The extent to which PROs have been included in trials that include common AYA cancer types has not been previously assessed. METHODS: Therapeutic phase 3 trials among common AYA cancer types (Hodgkin lymphoma, non-Hodgkin lymphoma, acute lymphoblastic leukemia, sarcomas, and germ cell tumors) initiated between 2007 and 2020 were identified on ClinicalTrials.gov. The proportions and characteristics of trials including a PRO endpoint were assessed. For comparison with an older population, the proportion of breast and colorectal therapeutic phase 3 trials including PRO endpoints were assessed. RESULTS: Eighty-seven studies met the inclusion criteria. Overall, 20.7% of therapeutic phase 3 AYA trials included a PRO endpoint, and only one trial published PRO data. Germ cell tumors (42.9%) and non-Hodgkin lymphoma (40%) trials had the highest proportions of PRO inclusion. The European Organization for Research and Treatment of Cancer generic, cancer-specific quality of life questionnaire was the most commonly used PRO measure; nevertheless, the measures used varied within and between cancer types. The proportion of trials including a PRO endpoint did not change significantly between 2007 to 2013 and 2014 to 2020 (18.6% vs 22.7%, P=.79). CONCLUSIONS: Few therapeutic phase 3 AYA cancer trials include PRO endpoints, fewer publish PRO data, and there is no homogeneity in the measures administered. Therapeutic trials represent an underused opportunity to capture PRO data in the AYA population with the goal of improving HRQOL outcomes.
Asunto(s)
Ensayos Clínicos Fase III como Asunto , Neoplasias , Medición de Resultados Informados por el Paciente , Adolescente , Adulto , Femenino , Humanos , Masculino , Neoplasias/terapia , Adulto JovenRESUMEN
PURPOSE: The population of adolescent and young adult (AYA, ages 15-39 years) diffuse large B-cell lymphoma (DLBCL) survivors is growing, however long-term overall survival patterns and disparities are largely unknown. METHODS: The current study utilized the Surveillance, Epidemiology, and End Results (SEER) registry to assess the impact of race/ethnicity, sex, socioeconomic status, and rurality on long-term survival in 5-year DLBCL survivors using an accelerated failure time model. RESULTS: Included were 4767 5-year survivors of AYA DLBCL diagnosed between the years 1980 and 2009 with a median follow-up time of 13.4 years. Non-Hispanic Black survivors had significantly worse long-term survival than non-Hispanic White survivors (Survival Time Ratio (STR): 0.53, p < 0.0001). Male sex (STR: 0.57, p < 0.0001) and older age at diagnosis were also associated with reduced long-term survival. There was no evidence that survival disparities improved over time. CONCLUSIONS: Racial disparities persist well into survivorship among AYA DLBCL survivors. Studies investigating specific factors associated with survival disparities are urgently needed to better address these disparities.