bluuebunny/crossref_metadata_2025_split huggingface dataset:
Are breast cancers in India different from Western populations? Results of a tertiary center retrospective analysis.
Authors: Chakraborty Sayan , Sarkar Sandip , Agarwal Namrata , Ahmed Rosina , Chatterjee Sanjoy , Ghosh Indranil 
Published: March 2020

e12039 Background: Breast cancer is the commonest cancer in the urban Indian female population but comprehensive data on the details of tumor types, outcomes post treatment and comparison with Western data is not readily available. We present a robust database of Eastern Indian breast cancers reported from a tertiary center. Methods: Retrospective analysis of 407 unselected medical records of breast cancer cases between June 2011 and October 2012 were undertaken. Clinico-pathological details, Nottingham Prognostic Index (NPI) Score post surgery (conservation and mastectomy) and follow-up were analyzed. Adjuvant chemotherapy details were recorded. Following Institutional guidelines a hypofractionated Radiotherapy (RT) schedule was delivered (40Gy in 15 Fractions over 3 weeks), with boost delivered in patients receiving conservation surgery. Acute radiation toxicity following hypofractionation was recorded. Results: Mean age at presentation was 52.42 years. 383 (94%) underwent surgery; breast-conservation in 37%. 34% received neo-adjuvant anthracycline-taxane sequential chemotherapy prior to surgery. For those who underwent upfront surgery, 12% patients had pT3 disease and 83% pT1/T2. 41%, 31%, 16% and 12% had pN0, N1, N2 and N3 disease respectively. 89% cases had infiltrating ductal carcinoma with 57% Grade III disease. 73% were ER positive and 35% were Her-2 positive. 31% patients were intermediate risk and 36% high risk (>5.5) by NPI Score. After upfront surgery 54% received adjuvant chemotherapy of which 63% received both anthracycline and taxanes sequentially. 67.4% patients received adjuvant RT where the median time between date of surgery and starting of RT was 5 months. Median post hypofractionated RT follow-up was 6 months when 7 out of 97 patients had > Grade 0 Skin toxicity, 4 had breast edema, 6 shrinkage, 8 patients had Grade I Lymphedema. Conclusions: Indian patients were younger and had advanced stage at presentation and higher NPI scores requiring more combined systemic chemotherapy. Hypofractionated RT schedule was tolerated well and further hypofractionation could now be investigated in clinical studies to improve throughput in moderate resource countries like India.
The rise in appendix cancer incidence: 2000-2009.
Authors: Marmor Schelomo , Portschy Pamela R. , Tuttle Todd M. , Virnig Beth A. 
Published: March 2020

e12506 Background: Cancer of the appendix is a rare and potentially aggressive malignancy. The objectives of this study were to characterize secular demographic patterns of disease and to determine survival by using a population-based data source. Methods: Using the Surveillance Epidemiology and End Results database we identified all appendiceal neoplasms reported to the registry between 2000 and 2009.Tumors were classified as carcinoid, adenocarcinoma, mucinous and signet ring cell carcinoma. We compared overall incidence, age distribution by tumor type and overall survival rates by extent of disease at diagnosis. To assess whether the incidence rate, tumor size, and cancer stage changed over time, the Cochrane-Armitage trend test was used. Logistic regression models were used to determine the odds of distant disease at diagnosis and Cox proportional-hazards modeling was used to identify the factors associated with overall survival rates. Results: We identified 4,765 patients with appendix cancer. The incidence of appendiceal cancer increased by 54% from 2000 (0.63 per 100,000) to 2009 (0.97 per 100,000). Incidence rates increased across all tumor types, stages, age groups and gender. The most common malignancies were mucinous (38%), followed by carcinoids (28%) adenocarcinoma (27%), and signet ring cell carcinoma (7%). Distant stage at diagnosis was most common among, signet ring cell tumors (60%). Larger tumor size and older patient age were significantly associated with higher relative odds of distant disease at diagnosis (P < .0001). Tumor type, older age, black race, males, tumor size of 2 cm and greater, cancer stage and registry were significantly associated with higher relative hazard of death (P< .0001). Mean 5-year survival was 55% for carcinoid patients, 49% for adenocarcinoma, 50% for mucinous and 38% for the signet ring cell cohort. Conclusions: Although appendiceal cancer is rare, the incidence increased significantly in the U.S. from 2000 to 2009. The cause of this trend is not obvious. We did not see increases differentially associated with stage, histology, registry or demographic characteristics. Further investigation is needed to examine factors underlying this increase. This research was generously supported by the Betti Boers Maloney Appendix Cancer Research Fund at the University of Minnesota Foundation.
Understanding international genomic diversity for breast cancer: Comparison of molecular subtypes of breast cancer in very young women (age ≤ 35) between Izmir (Western Turkey) and Boston (Massachusetts, USA).
Authors: Karaca Burcak , Battaglia Tracy Ann , Ko Naomi , McCoy Moly , Yasdik Hatice , Sherman Bonnie , Durusoy Raika , Sezgin Canfeza , Karabulut Bulent , Uslu Ruchan 
Published: March 2020

e12509 Background: One in forty women is diagnosed with breast cancer at a very young age (≤35 years). Studies suggest breast cancer molecular subtypes are different in young women, with a higher prevalence of triple negative and HER-2+ disease. Objective: Explore the impact of genetic diversity on molecular subtyping of very young breast cancer patients in geographically and ethnically diverse populations: Turkey and the United States. Methods: A retrospective analysis of women ≤35 years of age diagnosed with breast cancer from 1999-2011 at Ege University Faculty of Medicine (EUFM) and Boston Medical Center (BMC). Data were collected and abstracted from hospital cancer registries and electronic medical records. Molecular subtyping was based on immunohistochemical evaluation of estrogen, progesterone receptors, Ki-67, and HER2/neu. Bivariate analysis was conducted using Chi-Square and Fisher’s Exact tests. Results: There were 206 and 45 patients from EUFM and BMC, respectively. Mean age at diagnosis was 31.4±3; most were white (87%), parous (70%), had breast fed (74%), and no1st degree relatives with breast cancer (92%). BMC patients were younger (31.7±3 v. 29.9±3 p=.0006) and more racially diverse (0% v. 60% black/hispanic p <.0001). There were clinicopathological differences between EUFM and BMC, including: histological subtype (IDC 68% v. 93% p=.02), HER-2/neu positivity (60% v. 16% p <.0001), and Ki67 ≥15% (54% v. 83% p=.008). Missing data precluded subtyping in 25% and 22% of women at EUFM and BMC. Of subtypes determined, prevalence was the same; however, EUFM had more Luminal B and less Triple negative patients then BMC. Conclusions: Population-level similarities and proportional distinctions exist in molecular subtypes of breast cancer for women ≤35 years. In both countries, Luminal B and triple negative sybtypes were most common suggesting younger age rather than genetic diversity is an important determinant of molecular subtyping. [Table: see text]
High-throughput parallel amplicon sequencing of common driver mutations from FFPE lung cancer samples in molecular pathologic routine diagnostics for a regional health care provider network.
Authors: Buettner Reinhard , Koenig Katharina , Peifer Martin , Stamm Katrin , Bos Marc Christiaan Allardt , Nogova Lucia , Zander Thomas , Gardizi Masyar , Merkelbach-Bruse Sabine , Henkel Thomas , Wolf Juergen , Heukamp Lukas Carl 
Published: March 2020

e12517 Background: Treatment paradigms for non–small-cell lung cancer have shifted from histology based towards incorporation of molecular subtypes involving particular genetic alterations such as mutations in EGFR or translocations of ALK. The list of targetable lesions is rapidly increasing including mutations in genes such as EGFR, HER2, KRAS, ALK, BRAF, PIK3CA, AKT1, ROS1, NRAS, FGFR1 and MAP2K1. Analysis of these potential targets is becoming a challenge in terms of work load, tissue availability as well as cost. Within the Network Genomic Medicine Lung Cancer (NGM), a regional molecular screening network of the Center for Integrated Oncology Köln Bonn, we aimed to improve the sequential analysis of a set of 9 target amplicons by Sanger sequencing using bench top ultra-deep parallel sequencing platforms. We aimed to reduce 1) the time requirement for comprehensive molecular diagnostics, 2) the minimal amount of formalin fixed paraffin embedded (FFPE) derived input DNA, 3) while at the same time increasing the number of target regions analysed. Methods: We established a multiplex PCR to amplify up to 640 lung cancer relevant target regions from at least 20ng of FFPE derived tumor DNA. The amplicon libraries were ligated to adapters encompassing medical identifier sequences that allowed multiplexing of up to 48 patients. The resulting libraries were sequenced on a benchtop Illumina platform (MiSeq). Mutations identified by parallel sequencing were confirmed by Sanger sequencing. Results: 330 patients were analyzed by traditional Sanger sequencing of 9 amplicons and the newly established parallel sequencing protocol. The time needed to complete the mutation screening was significantly reduced to 7 working days from previously 21 days. A total of at least 300ng of DNA was needed to complete the analysis of 9 amplicons by Sanger sequencing compared to 20 to 100ng of DNA needed for up to 640 amplicons analyzed by parallel sequencing. Conclusions: Newly multiplex PCR based parallel sequencing allows rapid comprehensive mutation testing in routine molecular pathological diagnostics even on small transbronchial biopsies.
Risk of lymphoma in patients with chronic hepatitis C: A retrospective analysis on East Harlem population.
Authors: Alderuccio Juan Pablo , Quiel Luis , Ntalageorgos Themis , Popescu-Martinez Andrea M. , Bergasa Nora V. 
Published: March 2020

e12526 Background: The association between chronic hepatitis C (HCV) and lymphoma, especially non-Hodgkin lymphoma (NHL), has been conflicting, varies among different geographical regions, and its prevalence has been calculated to be 10-15%. It is postulated that HCV may produce a sustained stimulation of B-cells, providing a rationale for a potential association between this virus and NHL. Accordingly, the aim of this study was to explore the prevalence of NHL on HCV patients in a population subgroup of New York City. Methods: IRB approved retrospective study of adult patients with HCV seen at our Institution from January 2001 to July 2006 with at least one year of follow-up. HCV serology data were collected. Pathology reports were reviewed. Patients on chronic immunosuppressive therapy, previous oncologic treatment, autoimmune disease or HIV with CD4 count <200/mm3 for two years were excluded. Results: 510 patients were included, 3 of which (0.6%) developed NHL after the HCV diagnosis. NHL subtypes were marginal zone and diffuse large B-cell (2 patients). 354(69.4%) were men and median age was 58 years (29-96). Ethnicity distribution was Hispanic 303(59.4%), Black 150(29.4%), Caucasian 49(9.6%) and Asian 8(1.6%). Risks for viral hepatitis were IV drugs 393(77%), not identified 92(18%) and 25(5%) had others factors including hemodialysis, sex and blood transfusion. 504(98.8%) patients had positive HCV antibodies, 6(1.2%) with only positive PCR and 402(78.8%) with both positive. HCV-PCR was not performed in 102(20%) subjects with positive antibodies. Hepatitis B surface antigen was also positive in 7(1.3%) patients. Median follow-up was 72 months (12-468) with an interquartile range of 68.8, 181(35.6%) patients were alive, 90(17.6%) had died and 239(46.8%) were not seen for 2 or more years. The margin of error of the study was 0.04(4%). Conclusions: The prevalence of NHL in our population was 0.6% and is lower than current published data. This finding may be explained by the high prevalence of Hispanics in our study and their known lower incidence of lymphoma respect to Caucasians. Longer periods of follow-up and further investigations in environmental and genetic factors are necessary to confirm these results.
Validation of BRCA mutation-carrier probability model, BRCAPRO, in Japanese.
Authors: Ito Masahiro , Yasuda Yuri , Furuta Akihiko , Ohuchi Noriaki 
Published: March 2020

e12532 Background: Genetic testing has not been widely performed in Japan. It is not known whether BRCA mutation-carrier model is useful for selecting eligible person of genetic testing. We studied the validation of BRCAPRO in Japanese. Methods: Twenty-six hundred sixty-five people visited to our hospital between 2011 and 2012.They were surveyed family history as a risk factor of inheriting breast cancer according to NCCN guideline. Among them, those who have a number of family history of breast cancer, ovarian cancer, pancreatic cancer, prostate cancer were selected and in addition, genetic counselor constructed family tree. We also calculated BRCA1/2 mutation probability by BRCAPRO.Those who had more than 10% mutation probability and early onset breast cancer, triple negative breast cancer were received genetic counseling and genetic testing for applicants. We also calculated sensitivity, specificity and predictive value at 10% estimated probability. Results: One hundred five people (3.9%) were selected as a risk of inheriting breast cancer, of which sixty-three people (2.3%) were constructed family tree.The number of people who had more than 10% and 30% mutation probability by BRCAPRO was seven (0.26%) and three (0.11%).Nine people performed BRCA1/2 genetic testing (proband : eight, relative: one)Four people carried a deleterious BRCA mutation (BRCA1: three, BRCA2: one).In the cases which had more than 30% mutation probability, all of them carried a deleterious BRCA mutation. Most of their mutation site was L63X which was most frequent in Japan. Using a 10% cut-off, sensitivity was 75%, specificity was 80%,positive predictive value was 75%. When it comes to the cases which had more than 30% mutation probability, Sensitivity, specificity, positive predictive value were all 100%. Conclusions: Our findings suggest BRCAPRO is useful in Japanese, especially those who have more than 30% mutation probability.
Needs assessment and utilization of an educational workshop and support group for Lynch syndrome patients.
Authors: Rau-Murthy Rohini , Anrig Christopher , Glogowski Emily , Salo-Mullen Erin E. , Harlan Fleischut Megan , Sarrel Kara , Corines Marina , Niehaus Kate , Robson Mark E. , Markowitz Arnold , Kauff Noah D. , Offit Kenneth , Stadler Zsofia Kinga 
Published: March 2020

e12536 Background: Lynch syndrome (LS) requires a lifelong commitment to multi-organ cancer surveillance and/or prophylactic surgery. Emotional and informational support for LS patients is not readily available. Through an LS Educational Workshop (LSEW) we assessed the need and interest in an educational and support group for LS families. Methods: LS patients identified at Memorial Sloan-Kettering Cancer Center (MSKCC) were sent LSEW invitations and a pre-workshop survey. All patients underwent prior genetic counseling. Though family members could attend, only index patients completed the surveys. All attendees were asked to complete both an evaluation of the LSEW and a needs assessment regarding implementation of a support group. Results: Invitations to 213 LS patients were mailed. Of 8 potential discussion topics, the most desired were chemoprevention and cancer screening recommendations. Thus, the 1st hour of the LSEW was a didactic session by physicians on these topics and LS research. The 2nd hour was a panel on patient experiences, family communication and Q&A. Fifty-three patients (25% of those invited) and 22 family members attended. The LSEW evaluation was completed by 26 index attendees, with 88% overall satisfied or extremely satisfied. Common requests for improvement were better division of informational and support aspects, and more Q&A. Of 23 who completed the needs assessment, 73% considered an LS support group as either somewhat or extremely useful. The group was equally divided on preference for a free-flow vs topic-focused approach; 57% felt a support group would have increased utility immediately after genetic testing. An in person venue was preferred by 87% over a virtual one, and 73% preferred every 3-6 month meetings. Respondents preferred a group inclusive of gender and cancer history. Based on this, the MSKCC Lynch Syndrome Patient Advocacy Network was created in 2012 with an in-person, every 4 month meeting facilitated by a social worker. Conclusions: Following genetic counseling, there is a continued need for informational sessions and support groups for LS patients/family members. Implementation of an in-person support group is feasible and responsive to the needs of our LS population.
Identification of breast cancer (BC) patients (pts) fulfilling NCCN criteria for genetic risk assessment.
Authors: Lypas Georgios , Papageorgiou Konstantina , Georgiou Georgia , Zoulamoglou Menelaos , Tsoukalas Nikolaos , Zografos Georgios , Papakostas Pavlos , Barbounis Vasileios 
Published: March 2020

e12537 Background: Five to 10% of BC pts develop the disease due to an inherited predisposition syndrome; BRCA1/2 germline mutations are most commonly associated. NCCN guidelines help identify a somewhat broad group of pts requiring further genetic evaluation and a narrower one, for whom genetic testing is specifically recommended. Aims: The identification of pts requiring genetic guidance and the description of subgroups fulfilling NCCN criteria for genetic testing, according to family history (FH), demographic and clinical features, in a group of unselected Greek BC pts. Methods: This is a retrospective, medical records analysis of all histologically confirmed, unselected BC pts who who visited our department (Medical Oncology Unit, Hippocratio Hospital) between 2009 and 2012. Demographic, histopathologic and family history data was extracted and analyzed. Results: Among 690 pts eligible for analysis, 682 of which (98.8%) of Greek ethnicity, 233 (33.7% ) had a HER2+ subtype, 311 (45%) ER/PR+, and 69 (10%) triple-negative. Information was incomplete for the remaining 76 (11.1%). General criteria for furthr genetic evaluation were fulfilled by 301 patient (43.6%). Two hundred and eighty-six of them (41.44% ) were diagnosed with BC at age ≤50 and 15 (2.17%) at age older than 50; 12 (1.7%) had at least 2 close relatives with BC and 3 (0.43%) had a personal history of ovarian cancer (OC). BRCA1/2 testing criteria were fulfilled by 259 pts (37.5%). 172 (24.9%) were diagnosed at age ≤45. Seventy-five (10.8%) were diagnosed at age 46-50, 22 of which (3.1%) had one close relative with BC or OC and 16 (2.3% ) had two close relatives with BC or OC. Thirty-six pts (5.2%) with triple negative BC were diagnosed at age <60, 16 of which (2.3%) < 45 years old. No pts had a personal or FamHx of sarcoma, thus did not fulfill the relevant TP53 testing criteria. However 7 (1%) were diagnosed under age 30. Only 11 patients (1.6%) underwent genetic testing, revealing 5 (0.7%) carriers of a deleterious BRCA1 mutation. Conclusions: Almost half pts with BC require further genetic evaluation. The need for genetic counseling services and insurance coverage of genetic testing is highlighted by this study.
Breast cancer in the young (≤35 years): A single center study from the All India Institute of Medical Sciences.
Authors: Raina Vinod , Gogia Ajay , Mohanti B. K. , Deo S. V. S. , Shukla N. K. , Sreenivas Vishnu kumar 
Published: March 2020

e12539 Background: Breast cancer in young women (</= 35 years) is uncommon and accounts for 1-2 % of all breast cancer in the West. There is limited data on breast cancer in the young from India. The aim of our study was to assess clinical, pathological parameters and outcome in young breast cancer patients. Methods: We carried out an analysis of 271 patients of young breast cancer patients (</=35 years) registered between 2000 to 2012 at I.R.C.H, AIIMS, New Delhi, India. Results: The median age was 31 years (range 18-35). The median duration of symptoms was 10 months (range 0.25-60). Breast lump was the commonest (93%) presenting symptom (left >right side). Ninety percent of patients were married and median age at first child birth was 23 years. Positive family history was elicited in only 15 patients. The TNM stage distribution was: stage I was 3 %, stage II- 20%, stage III- 55%, and stage IV- 22%. The median clinical tumour size was 5.1 cm. Modified radical mastectomy was the commonest surgical procedure and this was done in 80 % of cases. The histopathological analysis showed 93% had infiltrating ductal carcinoma. Thirty percent of tumours were high grade and 55% had pathological node positive disease. ER/PR and her-2neu positivity was 33% and 30% respectively. Triple negative breast cancer (TNBC) constituted 33%. Fifty five patients presented with metastasis. A combination of anthracycline and taxanes were used in the majority of patients and Trastuzumab could be used only in 6 cases out of 72 patients who were Her-2 neu positive. With a median follow up of 30 months (non metastatic group), three years disease free survival (DFS) and overall survival (OS) was 50% and 60%. Higher nodal stage, tumour size (>5 cm), negative hormonal status (triple negative) and visceral metastasis at baseline predicted poor outcome. Conclusions: Young women constituted 8 % of breast cancer cases, this proportion is much higher than the published Western figures of 1-2 % and reflects younger age of our population. Even in this young group ER/ PR positivity was 33% and almost a third were her-2 neu positive. Higher nodal stage, tumour size (>5 cm), triple negativity and visceral metastasis at baseline predicted poor outcome.