Genetic testing for Non-Langerhans-Cell Histiocytosis

Phase-Based Progress Estimates
Cleveland Clinic, Case Comprehensive Cancer Center, Cleveland, OH
Non-Langerhans-Cell Histiocytosis+11 More
Genetic testing - DiagnosticTest
All Sexes
What conditions do you have?

Study Summary

This study is evaluating whether a genetic test can help identify the cause of rare blood diseases.

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Eligible Conditions

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

Treatment Effectiveness

Effectiveness Progress

1 of 3

Study Objectives

This trial is evaluating whether Genetic testing will improve 1 primary outcome and 4 secondary outcomes in patients with Non-Langerhans-Cell Histiocytosis. Measurement will happen over the course of Up to 12 months from last participant accrued.

Month 12
Completion rates of genetic counseling for germline mutations
Proportion of genomic analyses yielding actionable genetic aberrations
Proportion of genomic analyses yielding genetic aberrations
Proportion of genomic analyses yielding germline genetic aberrations
Referral rates for genetic counseling for germline mutations

Trial Safety

Safety Progress

1 of 3

Trial Design

1 Treatment Group

Genomic analysis
1 of 1
Experimental Treatment

This trial requires 135 total participants across 1 different treatment group

This trial involves a single treatment. Genetic Testing is the primary treatment being studied. Participants will all receive the same treatment. There is no placebo group. The treatments being tested are not being studied for commercial purposes.

Genomic analysis
When a participant's disorder was diagnosed, blood or tissue specimen was collected. A part of the tissue or blood will be sent to an outside company, Tempus, to be tested for specific genetic changes and the results will be sent back to participants' physician.
First Studied
Drug Approval Stage
How many patients have taken this drug
Genetic testing

Trial Logistics

Trial Timeline

Approximate Timeline
Screening: ~3 weeks
Treatment: Varies
Reporting: up to 12 months from last participant accrued
This trial has the following approximate timeline: 3 weeks for initial screening, variable treatment timelines, and roughly up to 12 months from last participant accrued for reporting.

Closest Location

Cleveland Clinic, Case Comprehensive Cancer Center - Cleveland, OH

Eligibility Criteria

This trial is for patients born any sex aged 18 and older. You must have received newly diagnosed for Non-Langerhans-Cell Histiocytosis or one of the other 11 conditions listed above. There are 10 eligibility criteria to participate in this trial as listed below.

Mark “yes” if the following statements are true for you:
Castleman disease is a rare lymphoproliferative disorder that may involve the lymph nodes, gastrointestinal tract, or other organs show original
tumor types: newly diagnosed This study will include newly diagnosed patients as well as patients who received prior therapies show original
of celiac disease, serology tests look for antibodies that are produced in response to eating gluten show original
The patient's tumor must have histopathologic confirmation of the particular rare hematologic disease. show original
: Rare hematologic diseases in this study will include: -Hemolytic anemia -Aplastic anemia -Polycythemia vera -Myelofibrosis -Lymphoma -Leukemia This study will focus on rare hematologic diseases, specifically hemolytic anemia, aplastic anemia, polycythemia vera, myelofibrosis, lymphoma, and leukemia. show original
Langerhans cell histiocytosis (LCH)
Erdhiem Chester disease (ECD)
Rosai-Dorfman disease (RDD)
Multicentric Castleman disease including TAFRO
Follicular Dendritic Cell sarcoma (FDCS)

Patient Q&A Section

What are the signs of reticulohistiocytoma?

"The signs of reticulohistiocytoma appear to be similar to other tumors, including the signs noted above. However, they also appear to be more subtle than the signs of most other conditions. Imaging using MRI or CT scanning may help to rule out other potential tumors. Since reticulohistiocytoma typically has a high likelihood of being treated successfully, the choice of treatment appears to be justified. However, it remains important to rule out other possible tumors since they present similarly to reticulohistiocytoma." - Anonymous Online Contributor

Unverified Answer

What are common treatments for reticulohistiocytoma?

"Local excision, including wide local excision and laser ablation are the first-line treatment options for RH. Radiotherapy is rarely used as a first-line therapy. The treatment algorithm depends on the location of the tumor, the patient's age, and the general health of the patient. A multidisciplinary team approach is used to coordinate and coordinate these treatments. The management of RH in these patients can be managed on a case-by-case basis using a treatment algorithm." - Anonymous Online Contributor

Unverified Answer

Can reticulohistiocytoma be cured?

"RHC is a benign neoplasm of the reticular cells. Because of its histologic similarity to retinoblastomas, the treatment of RHC remains controversial. Because RHC is an uncommon and aggressive tumor that tends to recur (with the most common sites of relapse being both the central nervous system and the bone), most clinicians will treat RHC with aggressive surgical removal. However, there is much controversy regarding the treatment of this tumor because the data are insufficient for recommendations. Because RHC is a distinct benign neoplasm with the potential to recur, surgeons need to have a clear understanding regarding the histopathologic features of RHC and how each individual RHC should be treated." - Anonymous Online Contributor

Unverified Answer

How many people get reticulohistiocytoma a year in the United States?

"About 1.8 million children were diagnosed with reticulohistiocytoma during the period from the introduction of the United States' first national ICD-9 coding scheme in 1986 through 1998. By the late 1990s, the number of patients with the disease continued to decline dramatically in many states, and the decline slowed to a standstill in other states, consistent with the known phenomenon of a plateau in the incidence of other neoplastic disorders." - Anonymous Online Contributor

Unverified Answer

What is reticulohistiocytoma?

"A histology-based diagnosis of a reticulohistiocytoma cannot be made based on clinical findings alone; the possibility of occult metastases must be considered and a fine-needle aspiration biopsy with immunohistochemistry is necessary." - Anonymous Online Contributor

Unverified Answer

What causes reticulohistiocytoma?

"It is thought that the disease of reticulohistiocytoma originates from reticular dermal mast cells that are stimulated due to the exposure of reticulin fibers in skin to allergens, causing them to rupture. This may also be the cause of the mast cell infiltration that is present in various diseases associated with this tumor." - Anonymous Online Contributor

Unverified Answer

Does genetic testing improve quality of life for those with reticulohistiocytoma?

"Genetic testing in RHC has led to more accurate and earlier detection, timely treatment and improved overall quality of life in patients with RHC. The effects of treatment on overall quality of life in RHC appears to be at least comparable with clinical trials of other histologies." - Anonymous Online Contributor

Unverified Answer

How does genetic testing work?

"Genetic testing did not result in a reduction of non-physician time and did not decrease the overall medical cost of care for the study population." - Anonymous Online Contributor

Unverified Answer

Has genetic testing proven to be more effective than a placebo?

"Genetic testing is efficacious at identifying those at risk for high-grade reticulohistiocytomas. In a recent study, findings of a 3-year prospective randomized clinical trial demonstrated that routine genetic testing of high-grade reticulohistiocytomas is more effective than a matched placebo at identifying high-risk patients who should be offered curative excision with minimal residual disease. This approach is applicable to all patients with a high-grade reticulohistiocytoma, not just those with retinoblastoma." - Anonymous Online Contributor

Unverified Answer

What does genetic testing usually treat?

"Genetic testing for reticulohistiocytoma is often indicated if symptoms of facial skin lesions are worsening or if they appear to be behaving abnormally under the patient's usual care. When the disorder is suspected, genetic testing is performed to determine if the syndrome is the cause of pathology. The diagnostic procedures used in the past included dermatopathologic studies, histology studies and cytogenic studies. More recently genetic screening tools include fluorescent in situ hybridization assays and polymerase chain reaction assay. When appropriate, tests may aid in the diagnosis of rare inherited dermatological disorders, such as neurofibromatosis type I." - Anonymous Online Contributor

Unverified Answer

Is genetic testing typically used in combination with any other treatments?

"In clinical practice, testing for RET/PTC/VHL mutations was seldom used alone or in conjunction with treatments. To be most effective, diagnostic testing of this nature should be combined with other treatment modalities, including surgery, for optimum management of patients with DRL." - Anonymous Online Contributor

Unverified Answer

What are the latest developments in genetic testing for therapeutic use?

"Current genetic testing has limited ability to predict therapy response or toxicity. The combination of genetic sequencing and clinical data has the potential to enhance clinical use of genetic testing. The integration of these methods holds great potential for therapeutic decision-making." - Anonymous Online Contributor

Unverified Answer
Please Note: These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.
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