IRB Study Number 20-1305
Status Recruiting
Institute Taussig Cancer Institute
Description
Primary Objective:
- To conduct an agnostic genomic evaluation of biological specimens (diseased tissue) in patients with rare hematologic diseases through whole exome sequencing using the Tempus platform to identify and comprehensively characterize the mutational profile in these diseases.
Secondary Objectives:
(a) To analyze what proportion of genomic analyses yield actionable genetic aberrations, and what proportion lead to change in patient management plan. Actionable will be defined as a mutation linked to an approved therapy in the particular disease or another disease, a known or suspected contraindication to a given therapy, or a clinical trial linked to the alteration.
(b) To explore any genotype-phenotype characterizations of these rare hematologic diseases determined by type of mutations and mutational burden.
(c) To evaluate the type and frequency of germline mutations in these diseases.
Inclusion Criteria
a) Must have histopathologic confirmation of the particular rare hematologic disease.
b) Diseases that will be considered as rare hematologic diseases for this study will include the following –
• Langerhans cell histiocytosis (LCH)
• Erdhiem Chester disease (ECD)
• Rosai-Dorfman disease (RDD)
• Miscellaneous histiocytic entities - indeterminate dendritic cell tumor, interdigitating dendritic cell sarcoma, follicular dendritic cell sarcoma, fibroblastic reticular cell tumor
• Unicentric Castleman disease
• Multicentric Castleman disease including TAFRO
• Follicular Dendritic Cell sarcoma (FDCS)
c) Newly diagnosed treatment naïve patients as well as patients who received prior therapies (e.g. chemotherapy, targeted therapy, surgery, or radiation) will be included.
d) Tissue specimens considered acceptable for study inclusion will include biological specimens from any organ or site in the body (obtained either through biopsy or surgical removal) and buccal mucosal swabs. DNA and or RNA from the tissue specimens will be used for genomic analysis. Tissue specimens collected within 5 years preceding the date of signed informed consent will be accepted. In such instances, redundant or residual viable tissue samples are planned to be collected from previously stored surgical or biopsy samples in surgical /anatomic pathology labs or IRB approved tissue biorepositories.
e) For those patients newly diagnosed and or awaiting surgery or those with progressive disease, tissue specimens will be collected prospectively after obtaining the informed consent.
f) Age ≥ 18 years
g) Consent to have germline testing performed in parallel to tumor testing
h) Patients willing to receive treatment
Exclusion Criteria
a. Life expectancy of less than 6 months
b. Patient unwilling to have germline testing performed on buccal mucosa
