Abstract 5772
Background
Over the past decade an increase in the incidence and severity of multiple primary neoplasias has been observed. The main causes of multiple primary tumors (MPT) are genetic factors, environmental factors, infections with oncogenic viruses, etc. The aim of the current study was to explore the role of genes associated with familial cancers in MPT development.
Methods
The study included 12 MPT patients, of which 6 women with metahronous/synchronous breast and ovarian tumors; and 6 men who developed primary tumors with different localisation: bladder/bile ducts; rectum/pancreas; prostate/colon; prostate/sigma; sigma/stomach; palate/larynx+hypopharynx/tongue, respectively. Seventy five (9/12) of the patients had family history of cancer and 50% (6/12) early onset (<50y). Mutational screening was performed by NGS of a panel of 94 tumor-associated genes on MiSeq platform (Illumina).
Results
A total of 82 variants were found of which 18.3% were evaluated as clinically significant. Among selected variants 33.3% (5/15) were pathogenic, 13.3% (2/15) likely pathogenic and 53.3% (8/15) variants of uncertain significance (VUSs). Pathogenic/likely pathogenic variants were detected in the genes BRCA1 (20%), MLH1 (13.3%), BRCA2 (6.7%) and CDH1 (6.7%) while VUSs in PMS1, GPC3, DIS3L2, PRF1, STK11, DICER1, RET, and MSH6, respectively.
Conclusions
Overall, the genetic cause of MPT was found in 58.3% (7/12) of the patients. Further research is needed to evaluate the functional effect of all VUSs.
Clinical trial identification
Editorial acknowledgement
Grants D-71/03.05.2018/MU-Sofia; KP-06-OPR03/1719.12.2018/NSF; DUNK01-2/2009/NSF, MES Bulgaria.
Legal entity responsible for the study
Medical University of Sofia.
Funding
Medical University Sofia; National Science Fund, Ministry of Education and Science, Bulgaria. Grants D-71/03.05.2018/MU-Sofia; KP-06-OPR03/1719.12.2018/NSF; DUNK01-2/2009/NSF, MES Bulgaria.
Disclosure
All authors have declared no conflicts of interest.
Resources from the same session
5995 - Invasive fungal diseases caused by rare pathogens in patients after hematopoietic stem cell transplantation (HSCT) & chemotherapy
Presenter: Yuliya Rogacheva
Session: Poster Display session 1
Resources:
Abstract
2961 - Safety and pharmacokinetics of novel CXCR4 antagonist YF-H-2015005 in the mobilization of hematopoietic stem cells in patients with non-Hodgkin's lymphoma
Presenter: Weiping Liu
Session: Poster Display session 1
Resources:
Abstract
5771 - Chemotherapy associated Hyponatremia in Hematological Malignancies: A retrospective study of 189 patients treated in a single medical center
Presenter: Vadim Lesan
Session: Poster Display session 1
Resources:
Abstract
1165 - Risk factors for Bacteremia-Associated Mortality of Aeromona sobria in Hematologic Malignancies
Presenter: Gabriel De la Cruz-Kú
Session: Poster Display session 1
Resources:
Abstract
5287 - Use of droplet digital polymerase chain reaction for detecting minimal residual disease: a prospective, multi-institutional study
Presenter: Hyunkyung Park
Session: Poster Display session 1
Resources:
Abstract
1886 - RUBIH2 — Use of NGS in haematological malignancies: from real world data to national recommendations, an innovative program to evaluate the impact of healthcare technology on patient care
Presenter: Severine Coquerelle
Session: Poster Display session 1
Resources:
Abstract
1940 - Outcomes of chronic myeloid leukemia with T315I mutation in the absence of targeted therapy or hematopoietic stem cell transplantation
Presenter: Nageswara Palukuri
Session: Poster Display session 1
Resources:
Abstract
1946 - Is bone marrow examination indispensible in chronic myeloid Leukemia at diagnosis ?
Presenter: Nageswara Palukuri
Session: Poster Display session 1
Resources:
Abstract
1904 - Incidence of Imatinib Resistance in Chronic Myeloid Leukemia (CML) Patients: Experience from Resource Poor Centre of Eastern India
Presenter: Debmalya Bhattacharyya
Session: Poster Display session 1
Resources:
Abstract
3245 - BCR-ABL transcript variant’s significance in chronic myeloid leukemia in chronic phase: Institutional experience from a developing country
Presenter: Siva Prasad
Session: Poster Display session 1
Resources:
Abstract