Mean Age Of Diagnosis Research Articles

Long-term outcomes in children with idiopathic nephrotic syndrome: a single center experience

Purpose: Idiopathic nephrotic syndrome (INS) is a common glomerular disease observed in children. Depending on their response to steroids, patients can be classified either as having steroid-sensitive nephrotic syndrome (SSNS) or steroid-resistant nephrotic syndrome (SRNS). Whereas SSNS patients respond favorably to steroid treatment and achieve a complete remission with normal renal functions, SRNS patients do not, and are at high risk of developing end-stage renal diseases (ESRD). The aim of this study was to analyze the long-term outcomes of patients with INS.
 Materials and Methods: In our medical center, records of children diagnosed with INS were evaluated. Demographic information, laboratory results, response to treatment, and clinical progression were analyzed.
 Result: Ninety-one children (64% male) with a mean age of 11.1±4.1 years (3.5-18) were included in the patient cohort, with a mean age of diagnosis of 5.2±3.8 years (1-16.2) and a mean follow-up period of 5.7±2.8 years (2-12). Sixty-eight (75%) patients had SSNS, and 23 (25%) patients had SRNS. Among the SSNS patients, 18 (31%) were steroid-dependent, 12 (20%) were frequently relapsing, and 29 (49%) were infrequently relapsing. Renal biopsy was performed on 29 (32%) patients, 59% had focal segmental glomerulosclerosis. The complete remission rate was 94% for all patients, with 100% for SSNS and 74% for SRNS. ESRD was developed for 9% of patients with SRNS.
 Conclusion: The response to steroid treatment serves as a valuable prognostic indicator for INS as it plays a pivotal role in mitigating the risk of progression toward end-stage renal failure.

A different starting line for allergic march: food protein-induced allergic proctocolitis.

The aim of this study is to investigate the long-term prognosis of food protein--induced allergic proctocolitis (FPIAP) patients, the risk of developing both allergic and gastrointestinal diseases, and to evaluate whether it leads to allergic march. A total of 149 children who were diagnosed with FPIAP and developed tolerance at least 5 years prior to the study and 41 children (with no history of food allergy) as a control group were enrolled. Both groups were re-evaluated for allergic diseases as well as gastrointestinal disorders. The mean age of diagnosis for the FPIAP group was 4.2 ± 3.0 months, while the mean age of tolerance was 13.9 ± 7.7 months. The mean age of both FPIAP and control groups at the last visit was 101.6 ± 24.4 and 96.3 ± 24.1 months, respectively (P = 0.213). At the final evaluation of both groups, the comorbid allergic disease was significantly higher in the FPIAP group (P < 0.001). There was no significant difference between the two groups in terms of functional gastrointestinal disorders (FGIDs), eosinophilic gastrointestinal diseases, and inflammatory bowel disease (P = 0.198, 0.579, and 0.579, respectively).In the FPIAP group, the allergic disease was significantly higher at the final visit in patients with comorbid allergic disease at diagnosis (P < 0.001). In the FPIAP group, FGID was significantly higher in the group that developed allergic diseases in the future, compared to the group that did not develop allergic diseases in the future (P = 0.034). The proportion of both FGID and allergic diseases was significantly higher in subjects that developed tolerance at >18 months, compared to subjects that developed tolerance at >18 months (P < 0.001 and <0.001, respectively). Patients with FPIAP may develop allergic diseases as well as FGID in the long term.

Prevalence of Glaucoma Following Paediatric Cataract Surgery in an Australian Tertiary Referral Centre.

Secondary glaucoma following childhood cataract surgery remains the most common complication in the paediatric population. This study aimed to determine the incidence, time to progression and risk factors associated with the development of secondary glaucoma following childhood cataract surgery in a paediatric population. Outcome measures were the detection of secondary glaucoma, postoperative time frame to development of glaucoma and risk factors in its development. A retrospective case series was conducted between 2003 and 2017 at a tertiary children's hospital in Sydney. The patient population included those 16 years or less of age who underwent congenital cataract extraction, with or without an intraocular lens implantation and who had been followed up for a minimum of six months following surgery. Patients were excluded if they had cataract aetiology other than congenital idiopathic cataract. Multivariate Cox Regression analysis was used to determine relevant risk factors. A total of 320 eyes in 216 patients were included in the study. Secondary glaucoma developed in 11.9% of eyes. In those that developed secondary glaucoma, the average time to onset from surgery was 3.2 years (median 2.75 years). The mean age of diagnosis of secondary glaucoma was 4.58 years (median 3.5 years, range 2.5 months to 13.23 years). Microcornea was the only adverse characteristic significantly associated with an increased risk of secondary glaucoma (HR 6.30, p 0.003). Despite modern surgical techniques, glaucoma remains a significant long-term sequela in children following cataract surgery.

Low-grade glial tumors: The experience of an oncology hospital in Türkiye

Objective: Several factors are important in the prognosis of low grade gliomas, besides genetic changes. The present study aims to examine the effect of other factors on prognosis except for genetic changes in low grade gliomas (LGGs). Materials and Methods: Patients diagnosed with “brain malignant neoplasm” who were referred to Hacettepe University Oncology Hospital were screened. Among these patients, 148 patients with a supratentorial low grade gliomas whose data are completely available were included. Patients were followed for at least five years after diagnosis or death within this period. Results: Mean age of diagnosis was 36.2±10.7 years, and 52.7% of patients (n=78) were females, Most common subtype was oligodendroglioma (n=86, 58.1%). Sixty-two of patients relapsed (41.9%). The 5-year mortality rate was 35.1% (n=52). Kaplan-Meier analysis of the variables, the only difference was between histopathological subtypes (p=0.03). Astrocytoma histology was related to wporse prognosis. Cox regression analysis of factors affecting 5-year mortality, advancing age (HR: 1.03, 95% CI: 1.00-1.06, p=0.03), astrocytoma (HR: 2.59, 95% CI: 1.35-4.98, p=0.004) and oligoastrocytoma (HR: 2.13, 95% CI: 1.02-4.43, p=0.04) were identified to increase the mortality risk. Conclusion: The age of the patients and the histopathologic subtype of the tumor must be taken into consideration during the follow-up and treatment of low grade gliomas.

Symptomatic Postnatal Cytomegalovirus Infection in Less than 32-Week Preterm Infants: 13-Year Retrospective Multicenter Case-Control Study

Introduction: Reports on the influence of postnatal cytomegalovirus (pCMV) infection in neonatal outcomes of preterm babies vary while guidance on management including screening is lacking. We aim to determine the association between symptomatic pCMV infection and chronic lung disease (CLD) and mortality in preterm infants born less than 32 weeks gestation. Methods: We used data from the Neonatal Intensive Care Units’ (NICUS) population-based prospective data registry of infants in 10 neonatal units in New South Wales and the Australian Capital Territory, Australia. De-identified perinatal and neonatal outcome data for 40,933 infants were examined. We identified 172 infants <32 weeks gestation with symptomatic pCMV infection. Each was matched with one control infant. Results: Infants with symptomatic pCMV infection were 2.7 times more likely to develop CLD (OR 2.7, 95% CI: 1.7–4.5) and spend 25.2 days more in hospital (95% CI: 15.2–35.2). Seventy-five percent (129/172) of infants with symptomatic pCMV were extremely preterm (<28 weeks). The mean age of symptomatic pCMV diagnosis was 62.5 ± 20.5 days or 34.7 ± 3.6 weeks-corrected gestational age. Ganciclovir treatment did not decrease CLD and death. CLD was 5.5 times predictive of death in patients with symptomatic pCMV infection. Symptomatic pCMV infection did not influence mortality nor increase neurologic impairment. Conclusion: Symptomatic pCMV is a modifiable factor affecting extreme preterm infants with significant impact on CLD. Prospective study on screening and treatment will help unveil potential benefits in our already at-risk preterm infants.

Autism Spectrum Disorder in Children with an Early History of Paediatric Acquired Brain Injury.

Autism spectrum disorder (ASD) is a neurodevelopmental condition that arises from a combination of both genetic and environmental risk factors. There is a lack of research investigating whether early acquired brain injury (ABI) may be a risk factor for ASD. The current study comprehensively reviewed all hospital records at The Brain Injury Service, Kids Rehab at the Children's Hospital at Westmead (Australia) from January 2000 to January 2020. Of the approximately 528 cases, 14 children with paediatric ABI were subsequently given an ASD diagnosis (2.7%). For this ASD sample, the mean age at the time of the ABI was 1.55 years, indicating a high prevalence of early ABI in this diagnostic group. The mean age of ASD diagnosis was, on average, 5 years later than the average ASD diagnosis in the general population. Furthermore, 100% of children had at least one medical comorbidity and 73% had three or more co-occurring DSM-5 diagnoses. Although based on a small data set, results highlight early paediatric ABI as a potential risk factor for ASD and the potential for a delayed ASD diagnosis following early ABI, with comorbidities possibly masking symptoms. This study was limited by its exploratory case series design and small sample size. Nonetheless, this study highlights the need for longitudinal investigation into the efficacy of early screening for ASD symptomatology in children who have sustained an early ABI to maximise potential intervention.

Genotype-phenotype correlation in siblings with cystic fibrosis

Introduction. Despite the genetic counseling, families with cystic fibrosis (CF) patients and modern possibilities of prenatal molecular genetic screening, the occurrence of CF in more than one child in a family is not rare. The same genotype is expected to determine the specific phenotype in CF patients, especially in siblings. However, broad clinical heterogeneity could indicate the influence of secondary genetic factors on the course of the disease.&#x0D; The aim of the study is to examine the genotype-phenotype correlation and disease course features in CF siblings, including twins.&#x0D; Materials and methods. A clinical retrospective cohort observational study included fifty three sibs (23 boys, 30 girls) aged from 6 months to 17 years 9 months (median age of 8.3 (4.8–12.9) years, age difference 5 ± 2 years) with a diagnosis of CF confirmed by molecular genetic methods. Group 1 consisted of 9 twin pairs (3 — monozygotic, 6 — dizygotic), group 2 — 35 complete sibs.&#x0D; Results. The mean age of diagnosis for older sibs is 2.5 years (8 months — 9,8 years; min — 1 months, max — 17 years) and for younger sibs — 8.5 months (1.3 months–3 years). Chronologically, the onset of CF was registered earlier in younger sibs than in older sibs in 3 (16.7%). In 6 (22.2%) of families, the pancreatic status of sibs varied from normal function to severe pancreatic insufficiency, with the occurrence of pancreatitis observed in only 4 (7.6%) patients. In 21 (77.8%) families with sibs infected by P.aeruginosa, 5 (23.8%) had a simultaneous primary culture of the pathogen, 8 (38,1%) had culture in both children but with an interval from 1 month to 9.5 years (Ме: 3.2 (5 months–4.9 years), and in 8 (38.1%) had culture in only 1 sibling. All younger sibs had the primary contamination at an earlier age with a 5.3 year (2–6.6 years;) difference. In 10 (37.0%) of the families, the pulmonary function of the sibs was variable. The number of bronchopulmonary exacerbations per year ranged in 8 (29.6%) of sib pairs and averaged 1.3 ± 0.5 in older sibs, 1.1 ± 0.3 in younger sibs, and 1.7 ± 1.3 in twins. The severity of hepatic involvement varied in 9 (33.3%) of sib pairs: no morbidity in 6 (33.3%), cystic fibrosis-associated fibrosis in 7 (38.9%), and cirrhosis with portal hypertension in 5 (27.8%).&#x0D; Conclusion. CF siblings, despite the same genotype, similar environmental conditions, and high risk of cross-infection, are characterized by wide phenotypic heterogeneity. Aside from the pathogenic CFTR variants, there are other genetic (modifier genes) and epigenetic (microRNA, DNA methylation) factors that could contribute to the clinical features of cystic fibrosis.

1353-P: Glycemic Control and Longitudinal Brain MRI in Children Diagnosed with Diabetes before 3 Years of Age (CLARiFY Study)

Though early childhood onset of type 1 diabetes (T1D) is associated with brain development alterations, the affected brain regions and role of glycemic control are unknown. We aimed to examine associations between of HbA1c mean and variability and brain structure in a cohort of children diagnosed with T1D before 3 years of age. We recruited children presenting to a tertiary hospital in Australia from 1990-1992 in the Cognition and Longitudinal Assessment of Risk Factors over 30 Years (CLARiFY) Study. HbA1c was serially measured over 30 years after T1D diagnosis. Brain MRI was performed at ~12- and 30-years post diagnosis. We used linear mixed effects modelling to examine associations between mean HbA1c and HbA1c coefficient of variation and brain MRI structural measures. Data were available for 10 subjects (6 female). The mean age of diabetes diagnosis was 1.9 years. The mean HbA1c at 12- and 30-years post diagnosis was 8.5%. We did not find an association between mean HbA1c and any of the brain structures. Greater HbA1c coefficient of variation was associated with less sub-cortical gray matter volume (β=-41537, p=0.006) and greater cortical thickness (β=0.47, p=0.02) but not other brain structure measures (Table 1). In these preliminary analyses, we found HbA1c variability associated with measures of gray matter. Work is ongoing to confirm and understand the implications of these results. Disclosure C.Moran: None. O.Gbadeyan: None. A.Brown: None. S.A.Sakowski: None. V.Srikanth: None. F.Cameron: None. E.A.Northam: None. E.L.Feldman: None. R.Beare: None. Funding National Institutes of Health (R01DK129320)

396-P: The Humanistic Burden of Type 1 Diabetes in U.S. Adults With or Without Recurrent Severe Hypoglycemic Events—A Qualitative Interview Study

Introduction: Despite advances in technology, many people with type 1 diabetes (T1D) still experience severe hypoglycemic events (SHEs). This study explored the perceived humanistic burden of T1D in adults using continuous glucose monitor (CGM) in the US with or without recurrent SHEs. Methods: In 60-minute semi-structured interviews, adult CGM users with self-reported T1D diagnosis (≥5 yrs.) described the burden of TID on quality of life (QoL). Participants ranked the ‘top 3’ negative impacts of T1D on QoL. Subgroup analyses were conducted in participants with recurrent SHE (rSHE; ≥2 SHEs last yr.) and without recurrent SHE (nSHE; ≤1 SHEs last yr.). Results: Participants (N=31; 42% rSHEs, 58% nSHEs) were 74% female and 81% were married. Mean age of T1D diagnosis was 28 yrs. Median SHEs in the past year in the rSHE group were 3 and in the nSHE group were 0. Both groups had mean HbA1c of 7.1%. rSHE and nSHE participants used hybrid closed loop systems (hCLS) (53.8% vs. 44.4%), multiple daily injections (23.1% vs. 33.3%) and continuous subcutaneous insulin infusion pump without hCLS (23.1% vs. 22.2%), respectively. All participants reported negative impacts on physical health, mental health, sleep, relationships, leisure activities, work/studies, and sex life. The ‘top 3’ ranked impacts for the rSHE cohort were physical health and sleep (tied at first) followed by leisure activities. Impacts to physical health, mental health, and relationships were ‘top 3’ for the nSHE cohort. Conclusions: Recurrent severe hypoglycemia is observed to persist despite use of advanced diabetes technology. Negative impacts on physical health ranked as the primary concern in both rSHE and nSHE cohorts. However, moderate variability in ranked negative impact order was observed between the cohorts. Disclosure A.Boateng-kuffour: None. P.Callahan: Consultant; Rhythm Pharmaceuticals, Inc., Abbott Diabetes, HealthCore Inc., BMS, Employee; Vertex Pharmaceuticals Incorporated, Genesis Research. K.Chandarana: Employee; Vertex Pharmaceuticals Incorporated, Stock/Shareholder; Vertex Pharmaceuticals Incorporated. J.L.Gaglia: Advisory Panel; Dompé, Consultant; Vertex Pharmaceuticals Incorporated, Abata Therapeutics, Avotres Inc., Current Health, Research Support; Avotres Inc., Dompé, Imcyse, Stock/Shareholder; Vertex Pharmaceuticals Incorporated. M.Phinney: None. E.Guzman ortega: Research Support; Vertex Pharmaceuticals Incorporated. R.N.Krupnick: Consultant; Vertex Pharmaceuticals Incorporated. M.Reaney: None. W.H.Polonsky: Consultant; Abbott Diabetes, Boehringer Ingelheim and Eli Lilly Alliance, Eli Lilly and Company, Insulet Corporation, Intuity Medical, Inc., MannKind Corporation, Provention Bio, Inc., Sanofi-Aventis U.S., Vertex Pharmaceuticals Incorporated.

1370-P: Glycemic Control and Intelligence over 30 Years in Children Diagnosed with Diabetes before 3 Years of Age (CLARiFY Study)

Early childhood onset of type 1 diabetes (T1D) is associated with poorer cognition. Yet, the contribution of glycemic control to poorer cognition is unclear. We examined the association between glycemic control and full-scale intelligence quotient (FSIQ) in a cohort of children diagnosed with T1D before age 3 followed over 30 years. We recruited children presenting to a tertiary hospital in Australia from 1990-1992 in the prospective Cognition and Longitudinal Assessment of Risk Factors over 30 Years (CLARiFY) cohort study. Those with T1D underwent a cognitive test series at entry and 2, 6, 12 and 30 years post-diagnosis. Linear mixed effects modelling examined associations between HbA1c mean and coefficient of variation and FSIQ over time. Data were available for 12 subjects (6 male). The mean diabetes diagnosis age was 1.9 years. The mean HbA1c at each time of 2, 6, 12 and 30 years was 7.9, 8.3, 8.4 and 8.7%, respectively (Fig.1 shows HbA1c plots across time for each subject). We did not find an association between mean HbA1c (β=-3.2, p=0.09) nor HbA1c coefficient of variability (β=23.2, p=0.34) and FSIQ. Future analyses with more data will further document the impact of lifetime glycemic control on IQ and other cognitive measures in later life. Future work will also examine the impact of diagnosis age and acute dysglycemic events on cognitive outcomes 30 years after diagnosis vs healthy controls. Disclosure F.Cameron: None. C.Moran: None. A.Brown: None. R.Beare: None. O.Gbadeyan: None. S.A.Sakowski: None. V.Srikanth: None. E.L.Feldman: None. E.A.Northam: None. Funding National Institutes of Health (R01DK129320)

#2754 EPIDEMIOLOGY OF PAUCI-IMMUNE ANCA-ASSOCIATED GLOMERULONEPHRITIS – REPORT FROM AN AUSTRALIAN POPULATION-BASED STUDY

Abstract Background and Aims ANCA-associated vasculitis is a group of autoimmune vasculitides of unknown aetiology that predominantly affect small blood vessels among different organ systems, with different phenotypic manifestations. Although vasculitides were reported to account for 12 percent of all renal biopsies in the state of Victoria [1] and crescentic glomerulonephritis was reported to account for 6 percent of all renal biopsies in the state of Queensland [2], the epidemiology data on renal predominant ANCA vasculitis, particularly renal biopsy confirmed ANCA associated glomerulonephritis (AAGN) is limited. Method This retrospective study was performed at the Royal Brisbane and Women's Hospital, a major tertiary hospital that service a population of 1,030,006 in North Brisbane, Australia. The 2012 Chapel Hill Consensus Conference definitions were used to identify renal predominant ANCA vasculitis. Patients with pauci-immune glomerulonephritis confirmed on kidney biopsy between 1st January 2005 to 1st October 2021 were selected. Clinical data was collected via electronic and paper medical records. Modified Monash Model classification was used to determine rurality of cases. Results 1433 kidney biopsy results were reviewed. 80 cases of biopsy-confirmed pauci-immune AAGNs were identified. There was no significant difference in gender (Male; 42/80 (53%), p = 0.87). There was a preponderance towards MPO-positive AAGN (53/80), as opposed to PR3-positive disease (21/80), 5/80 were ANCA negative and 1/80 did not have ANCA serology available. The mean age of diagnosis was similar between MPO and PR3 (63.7 vs 59.5 years, p = 0.34) and between males and females (63.3 vs 59.3, p = 0.42). There was no seasonal variation in AAGN diagnoses – 23/80 in spring, 20/80 in summer, 14/80 in autumn, 23/80 in winter ( χ2 = 1.48, p = 0.69). Fourteen (18%) patients died during the study period, 3 of which died prematurely before age 65. Within our cohort, 16% (13/80) of cases lived in regional/rural areas. Interestingly, all 3 premature deaths were from these areas. This may reflect poorer access to health care in regional/rural settings. Conclusion Pauci-immune ANCA-associated glomerulonephritis remains rare in North Brisbane, with estimated annual incidence of 4.6/million population, representing 5.6% of all kidney biopsies. The incidence is significantly lower than an American-based study that reported an incidence of 20 cases/million population [3] whilst a Swedish study reported an incidence of 13.2 cases/million population [4]. The reason behind the geoepidemiology variation is unclear, though there are evidence suggesting complex interaction of polygenic genetic susceptibility, epigenetic influences, and environmental associations such as rurality of living. Within our cohort, the incidence of MPO AAGN was 2.5 fold higher than PR3 AAGN, this is similar to other observed European and American data [5]. Our findings add to the current literature, particularly where epidemiological data on AAGN from the southern hemisphere is limited.

HGG-04. INFANTILE HIGH GRADE GLIOMA: HONG KONG EXPERIENCE

Abstract OBJECTIVE To review local infantile high-grade glioma (IHG) patients and their outcome. BACKGROUND Infantile high-grade glioma is diagnosed in patients less than 12 months of age. Studies have shown that it displays a more stable genome, and are usually single mutation driven. The most identifiable mutations are receptor tyrosine kinase (RTK) fusion, such as NTRK family, ROS1, ALK and MET. The current principal treatment remains to be surgery, but it is challenging for a complete resection due to hemispheric involvement. Chemotherapeutic drugs for IHG are still under debate, with targeted therapy showing efficacy in promoting tumour shrinkage. Despite being a challenging CNS tumour, the overall survival of IHG is superior to other paediatric high-grade gliomas. Result: We identified 7 IHG patients in our local data. Mean age of diagnosis was 3 months. There were 4 males and 3 females. Six patients had histological diagnosis of glioblastoma and 1 patient had diagnosis of anaplastic astrocytoma. One patient had her tumour located in infratentorial region. Three patients had multilobar involvement. NTRK fusion was found in 4 patients (NTRK fusion, ETV6-NTRK3 fusion and TPR-NTRK1 fusion). ALK fusion was found in 1 patient (HMBOX1-ALK). All patients underwent chemotherapy, with four patients switched to NTRK inhibitor afterwards. Surgery was performed at various time points for these patients. One patient passed away at 22 months of age at submission of this abstract. CONCLUSION A local review gives us more insight into the updated diagnosis, management and outcome of infantile patients diagnosed with high-grade glioma. Infantile high-grade glioma should be regarded as a unique tumour entity and a multidisciplinary approach is paramount in improving survival for this group of patients.

Redefining early-onset cancer and risk of hereditary cancer predisposition.

10510 Background: For most solid tumors, early age of onset, a marker for potential increased inherited risk, has been arbitrarily defined as a diagnosis of cancer at age &lt; 50. However, this disregards the variation in mean age of diagnoses across solid tumors resulting in the potential misclassification of patients at increased risk of germline alterations. Methods: 25,305 prospectively ascertained cancer patients, representing 32 solid tumor types, underwent sequencing analysis of up to 90 cancer predisposition genes using next-generation genetic analysis with reporting of germline likely pathogenic (LP) and pathogenic variants (P). Mean age of diagnosis by cancer type, with standard deviations (STD), were calculated according to Surveillance, Epidemiology, and End Results Program (SEER) data. Early-onset (EO-CA), average-onset (AO-CA), and late-onset (LO-CA) cancers were defined as cancers diagnosed &lt; -1 STD, -1 &lt; STD &gt; 1, and &gt; 1 STD around the mean age at diagnosis for the specific cancer type, respectively. Prevalence of LP/P variants was classified according to age of onset. Statistical analyses were performed using STATA. Results: Among 25,305 patients with 32 solid tumor types classified as per SEER data, 31% (n = 7,854) of patients were categorized as having EO-CA. Overall prevalence of germline alterations varied as a function of age at diagnosis with 19.2%(n = 1509), 15.9% (n = 2588/16,299), and 12.9% (149/1152) of EO-CA, AO-CA, and LO-CA patients harboring a germline LP/P variant (p &lt; 0.0001). The enrichment of variants in EO-CAs was driven by high- and moderate-penetrance genes with 13.2%, 9.2% and 5.1% of EO-CA, AO-CA, and LO-CA patients having an LP/P variant (p &lt; 0.0001); low-penetrance germline alterations were static across the age groups (6%, 6.7%, 7.8%). An age cutoff of 50 for early-onset cancer was &gt; 1 STD below the mean age at diagnosis in 20 cancer types resulting in 2,226 patients who would not have been classified as having EO-CA inclusive of 394 patients who tested positive for a germline LP/P, representing 26.1% of all germline EO-CA positives. Conclusions: Early-onset cancer should be defined taking into consideration the mean age at diagnosis for a specific cancer type as an arbitrary cutoff of age &lt; 50 misses over 25% of patients with an inherited cancer predisposition syndrome. Due to the high prevalence of inherited predisposition syndromes, genetic testing of all patients with EO-CA, irrespective of tumor type, is warranted.

Racial disparities in treatment and outcomes of pediatric hepatoblastoma.

10062 Background: Hepatoblastoma is the most common malignant liver tumor which affects pediatric patients. However, the incidence is rare with 100 cases reported per year.1 Current management consists of surgery and adjuvant cisplatin chemotherapy and radiation depending on tumor histology, resectability, and metastasis.2 However, due to its rarity, optimal treatment protocol remains unclear. The 5-year overall survival rate in the US is approximately 57-69%1. Methods: The National Cancer Database (NCDB) was used to identify patients diagnosed with hepatoblastoma from 2004 to 2020 using the histology codes 8970 as assigned by the Commission on Cancer Accreditation program. Kaplan-Meier, Chi-Square, and ANOVA tests were performed. Data was analyzed using SPSS version 27 and statistical significance was set at α = 0.05. Results: This study identified 1215 patients with hepatoblastoma. Black patients had a significantly lower median survival rate compared to White and other race patients (126.2 months vs 165.4 months vs 166.1 months; all p&lt;0.05). Black patients were more likely to be from low-income households than White patients (29.6% vs 17.3%; p&lt;0.05). The mean age of diagnosis was higher for Black patients compared to White patients (2.42 vs 1.99; p&lt;0.05). Black patients were less likely to receive surgery (63.5% vs. 75.4%; p&lt;0.05). Black patients on average had shorter distances to travel from their residence to the hospital (30.61 vs. 59.52 miles; p&lt;0.05). Black patients had longer mean stay times compared to white patients (16.7 days vs 11.2 days; p&lt;0.05). There was no significant difference in survival across incomes. When comparing Black and White patients there was no significant difference in insurance type, surgical margins, grade, stage, size of tumor, regional lymph nodes and time of diagnosis to treatment. No significant difference was shown between adjuvant therapies including chemotherapy and radiation. Conclusions: This study showed Black patients experienced inferior overall survival when diagnosed and treated for hepatoblastoma compared to White patients. This population was less likely to receive surgery, older when diagnosed, and had longer hospital stays. Poorer outcomes suggest a disparity in hepatoblastoma treatment.

Impact of cytoreductive surgery on survival outcomes for recurrent adult-type granulosa cell tumors of the ovary.

5573 Background: Adult-type granulosa cell tumor of the ovary (aGCT) is a rare tumor that often relapses and the optimal management strategy is not known. Cytoreductive surgery (CRS) offers an attractive option for disease confined to the abdomen/pelvis. However, few studies have evaluated the role of CRS compared to systemic therapy alone. Thus, the study objective was to determine the impact of secondary, tertiary, and quaternary CRS on survival outcomes for patients with relapsed aGCT. Methods: This was an IRB-approved retrospective cohort study that evaluated all patients with relapsed aGCT who were enrolled in the Rare Gynecologic Malignancy Registry at MD Anderson. Study inclusion criteria were patients who had histology-proven aGCT, were above 18 years of age, had at least one documented relapse, and had received treatment or treatment planning at MD Anderson. Progression-free survival (PFS) endpoints were the outcomes of interest and were defined as follows: PFS2 was defined from first recurrence to subsequent progression or death (PFS2), PFS3 was defined as second relapse/progression to third relapse/progression or death, and PFS4 was similarly defined. PFS2, PFS3, and PFS4 were estimated with methods of Kaplan and Meier and were modeled via cox proportional hazards regression. Analyses were performed among those with resectable disease at time of disease progression. Results: Among the 369 aGCT patients identified from January 1970 to October 2022, 162 met the study inclusion criteria for analysis. The mean age of diagnosis was 44.4 years old and the majority were initially diagnosed with stage 1 disease (72.8%). The median follow-up time for all patients was 5.86 years (range 0.09 – 34.27). At the first relapse, there were 151 patients who had resectable disease with 128 who underwent secondary CRS. PFS2 was significantly improved among those who underwent CRS compared to those who did not (HR 0.50, 95% CI 0.30 – 0.81; p = 0.005) with the median PFS2 difference being 18.24 months (p = 0.006). At the second relapse/progression, there were 120 patients with resectable disease with 52 who underwent tertiary CRS. PFS3 was significantly improved among those who underwent CRS compared to those who did not (HR 0.57, 95% CI 0.39 – 0.84; p = 0.004) with the median PFS3 difference being 6 months (p = 0.01). At the third relapse/progression, there were 96 patients with resectable disease with 46 who underwent quaternary CRS. There was a trend towards improved PFS3 among those who underwent CRS compared to those who did not (HR 0.69, 95% CI 0.45 – 1.06; p = 0.09). The use of systemic or hormonal therapy did not confer additional PFS benefit among those who underwent CRS. Conclusions: For relapsed, resectable aGCT, CRS may offer a beneficial impact on PFS. Future studies should evaluate the role of CRS on survival outcomes.

Timely assessment of 5-year relative survival of esophageal cancer patients in Taizhou, Zhejiang province.

Timely assessment of 5-year relative survival of esophageal cancer patients in Taizhou, Zhejiang province.

The impact of demographic factors on patients with intraosseous well-differentiated osteosarcoma.

e23502 Background: Well-differentiated intraosseous osteosarcoma (WDIO) is a rare cancer that primarily affects the medullary cavity of the femur and tibia. While WDIO accounts for only 2% of osteosarcomas, 10% of patients do not survive past 5 years. Due to its rare nature, there is difficulty diagnosing WDIO, and as such, patients present in later stages of the disease with more secondary complications. There is no standard of treatment for WDIO. The socioeconomic factors of WDIO have yet to be addressed in literature using data from the NCDB. The purpose of this study is to analyze the demographic and socioeconomic factors of patients diagnosed with WDIO, using the National Cancer Database (NCDB) to better understand its epidemiology. Methods: The National Cancer Database (NCDB) was used to create a retrospective cohort analysis of histologically-confirmed WDIO patients (N = 30) from 2004 – 2020. Regression analysis was performed to interpret incidence trends and descriptive statistics on specific demographic factors (sex, race, age, insurance status, income, type of treatment, facility type, and Charleson-Deyco score) on patients with WDIO. Results: There were a total of 30 patients in the NCDB database identified with a diagnosis of WDIO. From 2004 – 2020, there has been an increasing incidence rate (R2 = 0.3). The mean age of WDIO diagnosis is 37.9 (SD = 18.6 range = 8 – 80 years). The long bones of the upper and lower limbs accounted for 63.4% of the primary sites of the cancer. More women (63.3%) than men were diagnosed. The majority (83.3%) of the patients had Charlson-Deyo comorbidity scores of 0. The upper income quartile contained the highest percentage of patients (42.3%) compared to each of the other lower quartiles. There were more privately insured patients (63.3%) than patients on Medicaid/Medicare. Over half of the patients (51.9%) came from metropolitan areas with a population greater than 1 million. More than half of the patients were treated at research/academic facilities (51.3%). The main form of treatment in patients with WDIO was radical excision with limb salvage (60%). Local and partial resection occurred in 30% of the cases. Conclusions: This study addresses a significant gap in knowledge on the diagnosis of WDIO and its relation to socio-demographic factors. The majority of the patients present with WDIO in the long bones of the upper and lower body, which is concurrent with previous reports of WDIO. From our analysis, patients with WDIO tend to be in the upper income quartile, live in densely-populated urban areas, and receive radical excision surgery in academic programs. This preliminary research on the impacts of demographic and socioeconomic factors on WDIO could bring more awareness to its diagnosis. Further research on the impacts of these demographics on treatment options and overall prognosis would significantly enhance our knowledge regarding the social inequality surrounding WDIO.

FRACTURE-RELATED INFECTION: DIAGNOSIS AND MANAGEMENT AT A MAJOR TRAUMA CENTRE

IntroductionFracture related infection (FRI) is a challenging complication to manage in an orthoplastic setting. Consensus guidelines have been created to standardise the diagnosis of FRI and comprise confirmatory and suggestive criteria. In this study, the aim is to assess the diagnostic criteria and management of FRI with a particular focus on soft tissue reconstruction.Materials &amp; MethodsA retrospective study to identify the outcomes of FRI in the lower limb over a five year period at a Major Trauma Centre. Fracture specific information that was analysed includes: open versus closed, fractured bone(s) and site, initial fracture management, method of diagnosis and soft tissue management.ResultsA total of 40 patients were identified, 80% of whom were male (n= 32). The mean age for FRI diagnosis was 54 years (range 18–83 years). In our patient cohort, 10% were immunosuppressed and another 12.5% had a formal diagnosis of Diabetes Mellitus. A diagnosis of acute FRI (i.e. &lt; six weeks from time of injury) was made in 9 patients (22.5%). Chronic FRI was noted in 25 patients (62.5%). There was equal incidence of FRI in patients with closed fractures and open fractures (42.5%). Tibia and fibula fractures were most common (87.5%, n=35). Regardless of fractured bone(s), the more distal the fracture the higher the incidence of FRI (60% distal versus 12.5% proximal). Gram-positive cocci were the most commonly identified pathogens, identified in 25% of patients. Five patients underwent free flap reconstruction, two patients received pedicled muscle flaps and another two patients received split thickness skin grafts.ConclusionsThe diagnosis of FRI can be confirmed through the presence of a combination of confirmatory and suggestive criteria. We advocate a staged approach in the management of FRI with radical wound excision and temporary coverage followed by definitive soft tissue reconstruction.

Association of surgery and radiotherapy with risk of thoracic soft tissue sarcoma among older survivors of breast cancer.

e24063 Background: Although breast cancer survivors are living longer, they have an increased risk of treatment-related second cancers including rare but deadly thoracic soft tissue sarcomas (tSTS), such as angiosarcomas, compared with the general population. Limited studies have examined the relationship between surgery type and radiotherapy on tSTS risk, due to the rarity of this event. We undertook this large-scale study to analyze the joint effects of surgery type and radiotherapy with tSTS risk among older breast cancer patients followed in SEER-Medicare. Methods: The SEER-Medicare analytic cohort included 162,507 patients diagnosed with a primary breast cancer between 2000-2017, aged 66-84 years, who survived 1 year, and were followed until 2018. We calculated the cumulative incidence of tSTS and angiosarcoma accounting for competing risks. We then examined the joint effects of breast surgery and radiotherapy receipt (mastectomy + no/unknown radiotherapy, mastectomy + radiotherapy, BCS + no/unknown radiotherapy, and BCS + radiotherapy), with risk of developing any tSTS or angiosarcoma specifically. We also explored the influence of extent of mastectomy (removal of whole breast only, removal of whole breast and chest wall). We calculated hazard ratios (HRs) from multivariable Cox proportional hazard models, with attained age as the time scale, and adjusted for year of diagnosis (2000-2004, 2005-2009, 2010-2017), chemotherapy (yes, no/unknown), and stage (in situ, localized, regional/distant, unknown). Results: Mean age of breast cancer diagnosis was 73.68 (SD: 5.18) years. Patients were diagnosed with in situ (17.74%), localized (59.89%), and regional/distant (21.94%) stage. Median follow-up time was 6.75 years (IQR: 2.00-3.92), and 139 patients developed a tSTS (95 angiosarcomas). By 5 years after diagnosis, cumulative incidence of tSTS was 0.036% (95% CI: 0.027-0.48) and angiosarcomas was 0.019% (95% CI: 0.012-0.029). Compared with patients who received mastectomy + no/unknown radiotherapy, patients receiving mastectomy + radiotherapy were not at elevated risk (HR: 2.18, 95% CI: 0.71-6.70), whereas patients who received BCS without radiotherapy (HR: 3.04, 95% CI: 1.19-7.76) or with radiotherapy (HR: 7.01, 95% CI: 3.55-13.84) were at elevated risk of developing tSTS. Patients who underwent removal of whole breast and chest wall had a lower risk of developing tSTS (HR: 0.32, 95% CI: 0.11-0.94), compared to whole breast only. Nearly all angiosarcomas occurred among patients treated with BCS + radiotherapy. Conclusions: Clinically, these results, while rare, indicate the greatest risk of tSTS observed after BCS + radiotherapy and the need for closer monitoring and heightened awareness of tSTS. Additional studies are needed to investigate biological underpinnings of tSTS and the potential role of other cancer treatments and comorbidities on development of tSTS.

Clinical and Ophthalmological Findings in Patients with Behçet’s Uveitis at First Presentation

Aim: The present study attempted to demonstrate the clinical, demographic, and ophthalmological findings of patients with Behçet’s disease (BD) at first admission and relevant treatment modalities. Methods: We considered 161 eyes of 103 patients applying to the Uvea Unit of Ulucanlar Eye Training and Research Hospital between 2000-2012 and already suffering from BD or diagnosed with BD at their follow-ups. Then, we retrospectively investigated their clinical, demographic, and ophthalmological findings at first admission and the treatment modalities with the help of their medical records. Results: There were 70 (68%) male and 33 (32%) female patients, and 17 patients (16.5%) initially presented with ocular symptoms. While the patients’ mean diagnosis age was 26.79±9.24 years (4-61 years), it was 29.52±9.49 years (6-62 years) at the first eye attack. Eye involvement was bilateral in 58 patients (56.3%) and unilateral in 45 (43.7%). About half of the eyes (55.9%) were presented as panuveitis, 22.4% as posterior uveitis, 15.5% as anterior uveitis, and 6.2% as intermediate uveitis. While there were anterior chamber reaction + vitritis + retinitis and/or vasculitis (panuveitis) in 90 (55.9%) eyes, the others were characterized by isolated retinitis (12.4%) and isolated iridocyclitis (8.7%). Only two eyes (0.1%) had hypopyon at admission. We discovered at least one complication in 111 eyes (68.9%) at first admission. In particular, the most prevalent complication was found to be isolated macular edema in 45 eyes (28%) and isolated cataracts in 17 eyes (10.6%). On the other hand, topical steroid + systemic steroid + immunosuppressive (23.6%), topical + systemic steroid (16.8%), and systemic steroid + immunosuppressive (11.8%) became the most prevalently adopted medical treatments (with additions/alterations) at first admission, respectively. Conclusion: In a nutshell, BD is considered a multisystemic condition with frequent ocular manifestations. BD-associated uveitis often presents as panuveitis. Thus, early and efficient treatment of ocular complications seems to be critical for better visual prognosis.