Disease characteristics and treatment outcomes of young colorectal cancer patients.

2019 ◽  
Vol 37 (4_suppl) ◽  
pp. 691-691 ◽  
Author(s):  
Hiral D. Parekh ◽  
Yu Wang ◽  
Wissam Hanayneh ◽  
Miles Cameron ◽  
Sanda Tan ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Treatment Outcomes ◽  
Early Stage ◽  
Young Patients ◽  
Study Cohort ◽  
Chi Square ◽  
Perioperative Therapy ◽  
Cancer Specific Survival ◽  
Disease Characteristics ◽  
Cox Proportional Hazard Regression

691 Background: The incidence of colorectal cancer (CRC) in young patients (< 50 years) is increasing but little is known about disease characteristics and treatment outcomes in this patient population. Methods: CRC patients diagnosed at < 50 years of age (UF institutional registry 2000-2017) constituted the IRB approved study cohort. Statistical methods included descriptive statistics, uni-variable cox proportional hazard regression model, Pearson chi-square exact and Wilcoxon rank-sum test. Results: The median age at diagnosis was 45 years (range 17-50, n = 286) with 212 (74%) diagnosed between age 40-50. One third (35.7%) of patients had rectal primary and most common histology was adenocarcinoma (ACa, 84.6%) and 20% of those had poorly differentiated tumor. More than half of patients had an advanced primary (T3/T4, 65%) and 44% had lymph node positive disease. A trend towards increased delivery of perioperative therapy was seen in early staged disease. (See table) Patients who underwent curative resections had better hemoglobin (p = 0.005) and albumin levels (Alb, p < 0.001) and lower CEA level (p < 0.001). Factors associated poor survival were low alb levels ≤ 34 g/l, advanced primary tumor (T3/T4), nodal disease (N1/N2) and presence of diffuse metastasis. For stage 4 disease, the cancer-specific survival (CSS) at 1 year was 77.2%, 3-year CSS was 46.1% and 5-year CSS was 29%; survival was better (HR = 0.4; 95% CI 0.2-0.6, p < 0.001) among patients who underwent metastatectomy. Conclusions: Our data suggests that younger CRC patients were more likely to be managed in an aggressive manner with a higher proportion of early stage patients receiving perioperative therapy. A suggestion of an improved CSS was seen in advanced stage disease even with similar prognostic factors. Review of larger datasets are warranted. [Table: see text]

Colorectal cancer in young patients: An institutional experience.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e15140-e15140
Author(s):  
Wissam Hanayneh ◽  
Yu Wang ◽  
Thomas J. George ◽  
Miles Cameron ◽  
Sanda Tan ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Mutational Analysis ◽  
Early Stage ◽  
Young Patients ◽  
Braf V600e ◽  
Mismatch Repair Gene ◽  
Study Cohort ◽  
Common Mutation ◽  
Perioperative Therapy ◽  
Cancer Specific Survival

e15140 Background: The incidence of colorectal cancer (CRC) in young patients (<50 years) is increasing but little is known about disease characteristics and treatment outcomes in this patient population. Methods: CRC patients diagnosed at < 50 years of age (UF registry 2000-2017) constituted the IRB approved study cohort. Statistical methods included descriptive statistics, uni-variable cox proportional hazard regression model, Pearson chi-square exact and Wilcoxon rank-sum test. Results: Young CRC patients (n= 286) comprised 16% of total CRC patients (n= 1806) treated at our institution. (See Table for demographics and tumor characteristics). The median age at diagnosis was 45 years (range 17-50) with 74% diagnosed between age 40-50. One third (35.7%) of patients had rectal primary. DNA mismatch repair gene deficiencies (dMMR) and/or microsatellite instability (MSI) was tested in 60.1%; 10.5% had MSI-H or dMMR tumors and 11 of those had confirmed Lynch syndrome. Next generation sequencing (n= 71) or mutational analysis (n= 79) was performed. Most common mutation was exon 12 of K- ras (40.7%, n = 61) followed by TP53 (7.33%; n = 11) and PIK3CA (5.33%; n = 8). BRAF V600E was seen in 5 patients. Patients who underwent curative resections had better hemoglobin (p=0.005), albumin levels (p <0.001) and lower CEA level (p<0.001). Factors associated with poor survival were low albumin ≤34 g/l, advanced primary tumor (T3/T4), nodal disease (N1/N2) and presence of diffuse metastases. For stage 4 disease, the cancer-specific survival (CSS) at 1 year was 77.2%, 3-year CSS was 46.1% and 5-year CSS was 29%; survival was better (HR=0.4; 95% CI 0.2-0.6, p<0.001) among patients who underwent metastatectomy. Conclusions: Our results reveal that the most young CRC were 40-50 years age group with a female preponderance. Young CRC patients were more likely to be managed in an aggressive manner with a higher proportion of early stage patients receiving perioperative therapy. A suggestion of an improved CSS was seen in advanced stage disease even with similar prognostic factors. Review of larger data sets are warranted. [Table: see text]

Tumor-informed assessment of molecular residual disease and its incorporation into practice for patients with early and advanced-stage colorectal cancer (CRC-MRD Consortia).

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 4108-4108 ◽  
Author(s):  
Pashtoon Murtaza Kasi ◽  
Farshid Dayyani ◽  
Van K. Morris ◽  
Scott Kopetz ◽  
Aparna Raj Parikh ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Metastatic Disease ◽  
Residual Disease ◽  
Early Stage ◽  
Circulating Tumor Dna ◽  
Response To Treatment ◽  
Chi Square ◽  
Multiplex Pcr Assay ◽  
Crc Management ◽  
First Time

4108 Background: Circulating tumor DNA (ctDNA) testing can be used for the assessment of molecular residual disease (MRD) in patients with early-stage or advanced colorectal cancer (CRC). Prospective evaluation of this methodology in clinical practice has been limited to-date. Methods: A personalized and tumor-informed multiplex PCR assay (Signatera 16-plex bespoke mPCR NGS assay) was used for the detection and quantification of ctDNA for MRD assessment. We analyze and present results from an ongoing early adopter program of ctDNA testing across the spectrum of CRC management. Results: Here we present a total of 250 patients with colon (n=200), rectal (n=40), and other lower gastrointestinal cancers (n =10; anal, appendiceal, small bowel). MRD positivity rates and ctDNA quantification (mean tumor molecules/mL) are shown in Table. ctDNA detection was significantly associated with stage of disease (p<0.0001 Chi-square: 70.33). Additionally, in patients with radiologically measurable active metastatic disease, ctDNA detection rate was 100%. On the contrary, patients with advanced/metastatic disease who had partial response to treatment or no evidence of disease (NED) showed 28.5% and 19.2% of ctDNA-positivity, respectively. Conclusions: This is the first large, real-world study reporting on the results from a clinically validated MRD assay. For the first time we delineate MRD rates and quantify ctDNA concentration in patients with early-stage and advanced CRC. Furthermore, we provide an initial readout that effective ongoing treatment in patients with CRC may be correlated with ctDNA clearance. Ongoing analysis expanded to a cohort of 1200 clinical cases including correlation with genomic and serial testing will be presented. [Table: see text]

scholarly journals The Prevalence of Pathogenic or Likely Pathogenic Germline Variants in a Nationwide Cohort of Young Colorectal Cancer Patients Using a Panel of 18 Genes Associated with Colorectal Cancer

Cancers ◽  
2021 ◽  
Vol 13 (20) ◽  
pp. 5094
Author(s):  
Erik Frostberg ◽  
Annabeth Høgh Petersen ◽  
Anders Bojesen ◽  
Hans Bjarke Rahr ◽  
Jan Lindebjerg ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Mismatch Repair ◽  
Advanced Disease ◽  
Young Patients ◽  
Germline Variants ◽  
Mmr Genes ◽  
Disease Characteristics ◽  
Colorectal Cancer Patients ◽  
Repair Genes ◽  
Generation Sequencing

Introduction: The prevalence of pathogenic or likely pathogenic germline variants (PGV) in colorectal cancer (CRC) in young patients is seen in approximately one in five patients, with the majority of cases having gene variants associated with Lynch syndrome (LS). The primary aim was to describe the prevalence of 18 genes, all associated with hereditary polyposis and CRC, in a nationwide population of young CRC (yCRC) patients, and outline disease characteristics in patients with or without germline variants. Methods: We screened 98 patients aged 18–40 with CRC diagnosed in 2010–2013 for variants in MSH2, MSH6, MLH1, PMS2, EPCAM, APC, MUTYH, SMAD4, BMPR1A, STK11, PTEN, POLE, POLD1, NTHL1, AXIN2, MSH3, GREM1 and RNF43 using Next Generation Sequencing. Comparisons between patients’ characteristics in patients with PGV, and patients without germline variants (NPGV) were analyzed. Results: PGV were detected in twenty-four patients (24.5%), and twenty-one patients (21.1%) had variants in the mismatch repair (MMR) genes associated with LS. Variants in the APC and MUTYH genes were detected in 1% and 4%, respectively. Patients with NPGV had more advanced disease with adverse histopathological features. Conclusion: PGV was detected in one in four yCRC patients, and one in five yCRC patients had disease causing variants in the mismatch repair genes associated with LS.

scholarly journals Racial/Ethnic Disparities in Survival Among Patients With Young-Onset Colorectal Cancer

2016 ◽  
Vol 34 (18) ◽  
pp. 2148-2156 ◽  
Author(s):  
Andreana N. Holowatyj ◽  
Julie J. Ruterbusch ◽  
Laura S. Rozek ◽  
Michele L. Cote ◽  
Elena M. Stoffel
Keyword(s):  
Colorectal Cancer ◽  
Racial Disparities ◽  
Early Stage ◽  
Tumor Biology ◽  
Ethnic Disparities ◽  
Cox Proportional Hazards ◽  
Cancer Specific Survival ◽  
Early Stage Disease ◽  
Young Onset ◽  
Significant Difference

Purpose Racial disparities in colorectal cancer (CRC) persist, despite overall reductions in morbidity and mortality. In addition, incidence is rising among individuals younger than 50 years of age. We compared the survival of young-onset CRC among non-Hispanic black (NHB), non-Hispanic white (NHW), and Hispanic individuals. Patients and Methods Using the National Cancer Institute’s Surveillance, Epidemiology, and End Results program data, we identified individuals between the ages of 20 and 49 years, diagnosed with CRC between 2000 and 2009. Survival rates and Cox proportional hazards models were used to compare stage-specific 5-year survival among NHBs, NHWs, and Hispanics. Results We identified 28,145 patients with young-onset CRC (19,497 NHW; 4,384 NHB; 4,264 Hispanic) during the 10-year study period. Overall survival at 5 years after CRC diagnosis was 54.9% among NHB, 68.1% among NHW, and 62.9% among Hispanic individuals (P < .001). NHB individuals had a significantly higher hazard of cancer-specific death compared with NHWs after adjusting for age, sex, race, stage, county-level poverty, and treatment history in cases of colon (hazard ratio [HR], 1.35; 95% CI 1.26 to 1.45) and rectum/rectosigmoid junction (HR, 1.51; 95% CI, 1.37 to 1.68) cancers, whereas there was no significant difference in survival between NHWs and Hispanics. The greatest racial disparities in cancer-specific survival were observed among NHB and NHW patients diagnosed with stage II cancers of the colon (HR, 1.69; 95% CI, 1.33 to 2.14) and stage III cancers of the rectum (HR, 1.98; 95% CI, 1.63 to 2.40). Conclusion Survival after CRC diagnosis at a young age is significantly worse among NHBs compared with NHWs, even among patients with early-stage disease. Further study is needed to determine whether differences in tumor biology and/or treatment are associated with racial disparities in outcomes, which would have implications for CRC treatment and prevention.

scholarly journals Challenges of improving treatment outcomes for colorectal and anal cancers in Japan: the Colorectal Cancer Study Group (CCSG) of the Japan Clinical Oncology Group (JCOG)

2020 ◽  
Vol 50 (4) ◽  
pp. 368-378 ◽  
Author(s):  
Akira Ouchi ◽  
Dai Shida ◽  
Tetsuya Hamaguchi ◽  
Atsuo Takashima ◽  
Yoshinori Ito ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Treatment Outcomes ◽  
Clinical Oncology ◽  
Early Stage ◽  
Study Group ◽  
Oncology Group ◽  
Perioperative Treatment ◽  
Cancer Study ◽  
Improve Treatment ◽  
Cancer Study Group

Abstract Colorectal cancer is a major public health concern in Japan. While early-stage colorectal adenocarcinoma treatment entails radical resection of the primary tumor, the importance of perioperative treatment is growing as physicians seek to further improve treatment outcomes. For anal squamous cell carcinoma, definitive chemoradiotherapy is superior to radical surgery in terms of improved patient quality of life. The Colorectal Cancer Study Group of the Japanese Clinical Oncology Group was established in 2001 and has worked to provide answers to common clinical questions and improve treatment outcomes for colorectal and anal cancers through 15 large-scale prospective clinical trials. Here, we discuss the current state of perioperative treatment for early-stage colon, rectal and anal cancers in Japan and approaches taken by the Colorectal Cancer Study Group/the Japanese Clinical Oncology Group to improve treatment outcomes for these cancers.

scholarly journals Colorectal cancer in adolescents and young adults with Lynch syndrome: a Danish register-based study

BMJ Open ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. e053538
Author(s):  
Jon Ambæk Durhuus ◽  
Christina Therkildsen ◽  
Thomas Kallemose ◽  
Mef Nilbert
Keyword(s):  
Colorectal Cancer ◽  
Young Adults ◽  
Lynch Syndrome ◽  
Early Onset ◽  
Early Stage ◽  
Young Patients ◽  
Stage Distribution ◽  
Confounding Variables ◽  
Symptom Awareness ◽  
Cox Analysis

ObjectiveTo assess clinicopathological predictors and prognosis in early-onset colorectal cancer (CRC) in Lynch syndrome with comparison to patients diagnosed from age 40 and up.DesignNational, retrospective register-based case–control study.SettingDanish national hereditary CRC register.ParticipantsIndividuals with Lynch syndrome diagnosed with CRC from January 1950 to June 2020. The analysis was based on 215 early-onset CRCs diagnosed between 15 and 39 years of age and 574 CRCs diagnosed at age 40–88 years.Main outcome measuresClinical and histopathological characteristics and survival. Confounding variables were analysed by Cox analysis.Results27.2% of the tumours in the Danish Lynch syndrome cohort were diagnosed under age 40. Disease-predisposing alterations in MLH1 and MSH2 were overrepresented in the age 15–39 cohort compared with patients diagnosed over age 40. CRCs diagnosed under age 40 showed an adverse stage distribution with 36.2% stage III–IV tumours compared with 25.8% in the over age 40 group. However, young patients diagnosed with early-stage tumours did have a significantly better prognosis compared with early-stage tumours in the older age group.ConclusionsEarly-onset CRC in Lynch syndrome is primarily linked to alterations in MLH1 and MSH2 and displays an adverse stage distribution. These observations serve as a reminder of surveillance, symptom awareness and rapid diagnostic handling of CRC in young adults with Lynch syndrome.

scholarly journals Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy in Younger Patients with Peritoneal Metastasis from Colorectal Cancer

2021 ◽  
Author(s):  
Haipeng Chen ◽  
Sicheng Zhou ◽  
Yujuan Jiang ◽  
Zhaoxu Zheng ◽  
Zheng Liu ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Intraperitoneal Chemotherapy ◽  
Cytoreductive Surgery ◽  
Peritoneal Metastasis ◽  
Older Patients ◽  
Hyperthermic Intraperitoneal Chemotherapy ◽  
Cox Regression ◽  
Young Patients ◽  
Cancer Specific Survival ◽  
Younger Patients

Abstract Background Currently, few studies have evaluated effectiveness of cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC) in young patients with peritoneal metastasis (PM) of colorectal cancer (CRC) origin.Method Clinicopathological characteristics, perioperative data and survival outcomes in young patients, defined as being 50 years or less (n=23), performing CRS+HIPEC between June 2017 to June 2019 were reviewed and compared with older patients, defined as aged over 50 years (n=47).Results Compared with older patients, young patients were more likely to present with PM at the time of diagnosis (78.3% vs 51.1%, P=0.029) and exhibit a mucinous and signet-ring histology (60.9% vs 29.8%, P=0.013). The cancer-specific survival (CSS) after CRS+HIPEC in two groups are similar. On multivariate Cox regression, rectal origin (HR, 2.51, 95%CI, 1.11-5.67; P=0.027) and mucinous/signet adenocarcinoma (HR, 2.20, 95%CI, 1.02-4.74; P=0.044) were independent risk factors for poor CSS.Conclusion Younger patients (aged ≤50 years) with PM of CRC origin presented more often with synchronous PM than older patients. Although tend to exhibit a aggressive nature, they derive similar benefit from CRS+HIPEC as older patients.

scholarly journals A Comparative Study of Colorectal Cancer Based on Patient’s Age

2021 ◽  
Vol 63 (2) ◽  
pp. 70-73
Author(s):  
Nasir K. Dhahir ◽  
Aqeel Abbas Noaman
Keyword(s):  
Colorectal Cancer ◽  
Early Stage ◽  
Young Patients ◽  
Pathological Finding ◽  
Bowel Habit ◽  
Curative Surgery ◽  
Left Hemicolectomy ◽  
Presenting Symptoms ◽  
Bleeding Per Rectum ◽  
Frequent Site

Abstract: Background: The alteration of bowel habits, bleeding per-rectum and anemia were common features in both groups in this study, but in young patients there was a delay of 6 months between the presenting symptoms and the definitive diagnosis because the disease was not suspected and investigated in them. The most common site for the tumors in young patients was the rectum and in patients above the age of 40 years was the Sigmoid. The pathological finding showed that classification of the colorectal tumors in young patients appear moderately to poorly differentiated adenocarcinoma , this indicate a more malignant course of the disease in young patients. This study send a message to all clinicians that the incidence of colorectal cancer is increasing in young patients and therefore we should be alert when dealing with young patients presenting with abdominal pain, bleeding per-rectum and alteration of bowel habit to diagnose the disease at an early stage to undertake curative surgery . Aim of the study: To study the clinical coarse of colorectal cancer in age between (less than 40 to above 40), and the most frequent site and distribution, and the types of surgical intervention. Patients and methods: In the period between January 2012 to March 2013, 35 patients with colorectal cancer were treated at Al-Yarmouk Hospital,10 patients were below the age of 40 years ,( 5 Males and 5 Females ) with age ranging from 22-40 years , 25 patients were above the age of 40 years (12 males and13 females). Results:100% of patients less than 40 years presenting as anemia and 50% bleeding per rectum, while 88% of patients above 40 years with weakness and lethargy.30% of patients less 40years age, and 36% of patients above 40 years consider as an emergency cases, and others as elective cases. Surgical treatment involving 50% of patients less than 40 are right, left hemicolectomy and anterior resection, and in age of above 40 56% by left hemicolectomy. More common stages in young patents are  C and B  but in old  A ,B , C. Recommendations: Researchers recommend periodic screening by a doctor to diagnose the tumor early with the need to develop educational programs on early signs of colorectal cancer.

The influence of age on the diagnostic yield of genetic testing in dilated cardiomyopathy

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
D.E Cannie ◽  
A Protonotarios ◽  
M Lorenzini ◽  
M Akhtar ◽  
P Syrris ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Dilated Cardiomyopathy ◽  
Genetic Test ◽  
Diagnostic Yield ◽  
Young Patients ◽  
Positive Test ◽  
P Value ◽  
Study Cohort ◽  
Gene Encoding ◽  
Chi Square

Abstract Background Dilated cardiomyopathy (DCM) has an estimated population prevalence of 1/250 and is the underlying diagnosis in a third of heart failure patients. A substantial proportion of patients have familial disease caused by dominant mutations in one of more than 50 genes, but clinical practice guidelines recommend genetic testing in young patients with idiopathic DCM. There is an absence of robust data on the influence of age on the diagnostic yield of genetic testing. Methods The study cohort comprised 825 consecutive and unrelated patients (524 male (63.5%)) with DCM who underwent genetic testing from 2015 to 2019. Genetic variants were classified using American College of Medical Genetics (ACMG) criteria. Analyses were stratified by age and sex. Results 173 (20.1%) patients had a positive genetic test (“pathogenic” or “likely pathogenic” variant); 292 (34.4%) had a variant of unknown significance. Mean age at genetic testing was 49.9±14.4 years. Mean age of patients with a positive test was 47.6±13.6 years. 99 (18.9%) men and 67 (22.3%) women had a positive test (p=0.246). Mutations in the TTN gene, encoding for titin, accounted for 46.1% of positive results. 13.8% of mutations were in DSP, 8.4% in RBM20, 6% in FLNC, 4.2% in LMNA, 3.6% in BAG3 and 3.6% in MYH7. There was a trend to declining yield with age (likelihood ratio chi-square p value = 0.047). The yield was 17.2% in the 56–65 year age group and 11.5% above 66 years of age (figure 1). Conclusions Approximately 1 in 5 patients with DCM had a positive genetic test. The yield declined in patients over 66 years but remained above 11%, suggesting that genetic testing should not be confined to younger patients with DCM. Figure 1. Yield of Genetic Testing by Age Funding Acknowledgement Type of funding source: None

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