Molecular Basis of Langerhans and Non-Langerhans Cell Histiocytic Neoplasms and Castleman Disease

Case Comprehensive Cancer Center135 enrolled

Overview

The purpose of this study is to use agnostic genomic evaluation using whole exome sequencing (WES) of a variety of rare hematologic diseases grouped under rare blood diseases and its variants to further elucidate the understanding of the chemistry of these disorders and identify potential actionable mutations that can be targeted with therapies in the context of clinical trials.

The study team will examine genetic changes, also known as mutations, in the DNA of participants' blood, or if applicable, bone marrow specimen. These types of tests are increasingly used by doctors to improve the accuracy of diagnosis and make decisions during care. This study seeks to understand how many patients will benefit from this testing, and in what ways. The results of this portion of the study are placed in the individual's medical record and are communicated back to each participant.

Study Type

INTERVENTIONAL

Allocation

Purpose

SCREENING

Masking

NONE

Enrollment

135

Conditions

Castleman's Disease (CD)Langerhans Cell Histiocytosis (LCH)Non-Langerhans-Cell Histiocytosis

Interventions

Genetic testingDIAGNOSTIC_TEST

Genetic testing of blood or tissue sample and limited medical information sent to an outside company. Database will link genome sequence data with human trait information, including cancer and other diseases, to be sent to participant's physician.

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

Inclusion Criteria: * Must have histopathologic confirmation of the particular rare hematologic disease. * 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) * Newly diagnosed treatment naïve patients as well as patients who received prior therapies (e.g. chemotherapy, targeted therapy, surgery, or radiation) will be included. -Tissue specimens collected within the past 5 yearse will be considered acceptable for study inclusion will include the following * Collected as part of the evaluation for diagnostic confirmation * Tissue specimen or extracted DNA (from blood sample) banked in IRB approved tissue repositories and obtained within five years prior to the date of informed consent. -Tissue samples are planned to be collectedfrom previously stored surgical specimens already being stored in pathology lab * Consent to have germline testing performed in parallel to tumor testingg)Patients willing to receive treatmen Exclusion Criteria: * Life expectancy of less than 6months * Patient unwilling to have germline testing performed on peripheral blood or buccal mucosa

Locations (1)

Cleveland Clinic, Case Comprehensive Cancer Center

Cleveland, Ohio, United States

Outcomes

Primary Outcomes

Proportion of genomic analyses yielding genetic aberrations

Proportion of genomic analyses yielding actionable genetic aberrations. "Actionable" is defined as a mutation linked to an approved therapy in the particular disease under study or another disease, a known or suspected contraindication to a given therapy, or a clinical trial linked to the alteration