|Cancer Type Studied||# Cases Characterized||Publication|
|Burkitt Lymphoma Genome Sequencing Project (BLGSP)||120||Blood 2019|
|HIV+ Tumor Molecular Characterization Project: Cervical Cancer||211||Nature Genetics 2020|
Burkitt Lymphoma Genome Sequencing Project (BLGSP)
The goal of the Burkitt Lymphoma Genome Sequencing Project (BLGSP) is to explore genetic changes in patients with Burkitt lymphoma and uncover knowledge that could lead to better prevention, detection, and treatment of this rare and aggressive cancer. The Center for Cancer Genomics at NCI initiated BLGSP in collaboration with the Foundation for Burkitt Lymphoma Research. The molecular characterization data from Burkitt lymphoma patients identified through BLGSP will be available to the research community worldwide in a publicly available, yet patient privacy-protected database.
Burkitt lymphoma is a type of non-Hodgkin lymphoma that occurs most often in children and young adults. It is associated with a chromosomal translocation of the MYC gene to one of the three immunoglobulin loci. Burkitt lymphoma is divided into three main clinical variants: endemic, sporadic, and immunodeficiency-associated. These variants are generally distinguishable by previous exposure to viral infection, tumor location, and geographic location of the patients, although there are exceptions. Current chemotherapy regimens are effective in approximately 40%–90% of patients. Treatment success depends on age, stage of the disease, treatment regimen, and site of the treatment facility. The variability of tumor response demonstrates the need for new treatments to improve patient outcomes and quality of life.
BLGSP for pediatric cases has been completed. View the publication from pediatric Burkitt lymphoma cases.
BLGSP for adult cases is an ongoing project currently in phase 4 (publication).
More information about BLGSP can be found on the BLGSP fact sheet.
HIV+ Tumor Molecular Characterization Project (HTMCP)
The Center for Cancer Genomics, along with the Office of HIV and AIDS Malignancies, initiated the HIV+ Tumor Molecular Characterization Project (HTMCP) to gain insight into the genetic events driving HIV-associated cancers and to determine why certain cancers, but not others, have higher incidences in HIV-positive patients. The molecular characterization data from patients identified through HTMCP will be available to the research community worldwide in a publicly available, yet patient privacy-protected database.
Acquired immunodeficiency syndrome (AIDS) is a complex and devastating disease caused by infection with human immunodeficiency virus (HIV). The advent of highly active antiretroviral therapy has considerably slowed disease progression from HIV to full-blown AIDS, thereby increasing the number of people living with HIV. Despite this success in survivorship, certain types of cancers are becoming more prevalent in the expanding pool of HIV-infected individuals. While coinfecting viruses and, possibly, immunodeficiency may play a role in the pathogenesis of HIV-associated cancers, our understanding of its etiology is inadequate. Understanding the molecular causes of these tumors may translate into improved therapies for a growing population of patients doubly afflicted with HIV and cancer.
HTMCP Cancer Types
HTMCP studies the following cancers based on their high rates of incidence and mortality among HIV-positive patients:
Cervical CancerHuman papillomavirus (HPV) infection is required but not sufficient for cancer development. Cervical cancer is classified as an AIDS-defining malignancy, like Kaposi sarcoma, because of its prevalence in AIDS patients. According to UNAIDS, women infected with HIV are five times more likely to develop cervical cancer than women not infected with HIV.
The HTMCP cervical cancer project is complete. View the publication titled Analysis of Ugandan Cervical Carcinomas Identifies Human Papillomavirus (HPV) Clade-Specific Epigenome and Transcriptome Landscapes at PMID: 32747824.
To probe the impact of viral gene expression on tumor gene expression, the HTMCP project team performed unsupervised clustering of viral E1, E2, E6, and E7 transcripts, which had annotations associated with them in GenBank (download date: December 2019). A list of these references can be accessed via CGCI HTMCP-CC HPV Transcript References (December 2019).
Diffuse Large B-Cell Lymphoma (DLBCL)DLBCL is the most common form of non-Hodgkin lymphoma, a cancer of the white blood cells. DLBCL is an AIDS-defining malignancy that is common in AIDS and HIV-positive patients. People infected with HIV are over 20 times more likely to be diagnosed with non-Hodgkin lymphoma, largely in the form of DLBCL, than those without HIV infection.
HTMCP DLBCL is an ongoing project currently in phase 2 (discovery).
Lung CancerLung cancer has a high mortality rate in both men and women. It has been established that cigarette smoking is the leading cause of squamous cell carcinoma of the lung; however, lung adenocarcinoma develops in people who have never smoked. HIV-infected individuals have a threefold increased risk of lung cancer, mostly in the form of adenocarcinoma, compared with the general population.
This rate is expected to rise over time. Notably, the subtypes and aggressiveness of lung cancers in HIV-positive patients are different from that seen in HIV-negative cases, suggesting differences in underlying biological mechanisms.
HTMCP lung cancer is an ongoing project currently in phase 2 (discovery).