The first 60 days: Rosai-Dorfman-Destombes disease
Rosai-Dorfman disease is a rare histiocytosis in which large immune cells called histiocytes fill the neck lymph nodes or grow in the skin, bones, nose, brain coverings or kidneys. Many cases fade without treatment, so it is watched unless it threatens an organ, when surgery, steroids, sirolimus or, for the third with a growth-pathway mutation, MEK inhibitors such as cobimetinib are used. Below, week by week, is what OnCo's record of Rosai-Dorfman-Destombes disease says about the first two months: the order is typical, the timing is yours to ask about. Sections appear only where the record has something to say. Orientation, not medical advice.
What happens now
Staging tests establish exactly what and where the cancer is. Everything else follows from the answers.
Excisional biopsy with immunohistochemistry and MAPK pathway sequencing; FDG-PET/CT; MRI where neurological disease is suspected; immunoglobulins and autoimmune screen.
Ask which of these were tested and what the results were; see the report reader for what each value means.
These specialties appear in the standard of care for this cancer. In most centres they meet weekly as a tumour board to agree each plan; you can ask when yours was discussed and what was decided.
- PathologistNamed in the standard of care for: Diagnosis and staging, Asymptomatic nodal or cutaneous disease.
- RadiologistNamed in the standard of care for: Diagnosis and staging.
- SurgeonNamed in the standard of care for: Diagnosis and staging, Asymptomatic nodal or cutaneous disease, Single or compressive extranodal lesion.
- Medical oncologistNamed in the standard of care for: Single or compressive extranodal lesion, Multifocal or organ-threatening disease, MAPK-mutant or refractory disease.
- Clinical oncologist (radiotherapy)Named in the standard of care for: Single or compressive extranodal lesion.
A second opinion from a centre that treats many similar cases is normal, not rude; the standard of care tells you what to compare it against.
Each row is a setting from the standard of care, in the order it usually arises. Not all will apply to you; your stage and biomarkers decide which do. The guideline grade, where recorded, says how strong the evidence is.
- 1.Asymptomatic nodal or cutaneous diseaseConsensus recommendations for Rosai-Dorfman-Destombes disease (Blood 2018)
Observation, because spontaneous regression is common.
- 2.Single or compressive extranodal lesionConsensus recommendations for Rosai-Dorfman-Destombes disease (Blood 2018)
Surgical excision or debulking; radiotherapy for unresectable localised disease (orbit, airway).
- 3.Multifocal or organ-threatening diseaseConsensus recommendations for Rosai-Dorfman-Destombes disease (Blood 2018)
Corticosteroids for rapid control; sirolimus with prednisone, cladribine, methotrexate or lenalidomide; rituximab for IgG4-associated disease.
- 4.MAPK-mutant or refractory diseaseConsensus recommendations for Rosai-Dorfman-Destombes disease (Blood 2018)
Cobimetinib (approved 2022 for histiocytic neoplasms) or trametinib.
Generated from this cancer's standard of care, biomarkers and open problems. Take the group that matches where you are. To tick, add your own and print, open the one-page appointment sheet.
Newly diagnosed
- What is my exact diagnosis, stage, and grade, and which tests established them?Everything else follows from an accurate stage and subtype.
- Which biomarkers have been tested on my tumour (for example S100 and CD68 positive, CD1a and langerin negative histiocytes with emperipolesis, KRAS, MAP2K1 and other MAPK pathway mutations, FDG-PET/CT for extent and response, IgG4-positive plasma cells, Immunoglobulin levels, autoimmune screen and SLC29A3 testing where familial disease is suspected), and what were the results?These results decide eligibility for targeted therapy, immunotherapy, and trials.
- Which subtype is my cancer, and does that change the recommended treatment?Recognised subtypes for this cancer include Classical nodal Rosai-Dorfman disease, Extranodal Rosai-Dorfman disease, Neurological Rosai-Dorfman disease.
- Is germline (inherited) genetic testing recommended for me or my family?Inherited variants can change treatment and matter for relatives.
Diagnosis and staging
- For my situation (diagnosis and staging), which of the standard options do you recommend and why?Guideline options include: Excisional biopsy with immunohistochemistry and MAPK pathway sequencing; FDG-PET/CT; MRI where neurological disease is suspected; immunoglobulins and autoimmune screen.
Asymptomatic nodal or cutaneous disease
- For my situation (asymptomatic nodal or cutaneous disease), which of the standard options do you recommend and why?Guideline options include: Observation, because spontaneous regression is common.
Single or compressive extranodal lesion
- For my situation (single or compressive extranodal lesion), which of the standard options do you recommend and why?Guideline options include: Surgical excision or debulking; radiotherapy for unresectable localised disease (orbit, airway).
Multifocal or organ-threatening disease
- For my situation (multifocal or organ-threatening disease), which of the standard options do you recommend and why?Guideline options include: Corticosteroids for rapid control; sirolimus with prednisone, cladribine, methotrexate or lenalidomide; rituximab for IgG4-associated disease.
- Am I a candidate for Cladribine, Methotrexate, Rituximab, and what side effects should I expect?Knowing the expected toxicities helps you plan work, family, and supportive care.
MAPK-mutant or refractory disease
- For my situation (mapk-mutant or refractory disease), which of the standard options do you recommend and why?Guideline options include: Cobimetinib (approved 2022 for histiocytic neoplasms) or trametinib.
- Am I a candidate for Cobimetinib, and what side effects should I expect?Knowing the expected toxicities helps you plan work, family, and supportive care.
Any stage
- Are there clinical trials I could join, for example of Cobimetinib?Trials are how the next standard of care is set; asking early keeps options open.
- Would a second opinion at a high-volume centre change anything, and can you help arrange it?Rare or high-stakes decisions benefit from a centre that treats many similar patients.
- What supportive care (symptom control, nutrition, exercise, mental health, financial help) is available from the start?Supportive care improves quality of life and helps patients complete treatment.
- I read that “Which patients will regress spontaneously cannot be predicted”. How does that affect my plan?Open problems are where trials and second opinions matter most.
- I read that “Two thirds of cases have no identified driver mutation”. How does that affect my plan?Open problems are where trials and second opinions matter most.
Much of what helps in the first weeks is free if you know to ask: testing, helplines, rides and lodging, second opinions, trial travel.
- Rosai-Dorfman-Destombes disease: the full pageRosai-Dorfman disease is a rare histiocytosis in which large immune cells called histiocytes fill the neck lymph nodes or grow in the skin, bones, nose, brain coverings or kidneys. Many cases fade without treatment, so it is watched unless it threatens an organ, when surgery, steroids, sirolimus or, for the third with a growth-pathway mutation, MEK inhibitors such as cobimetinib are used.
- One-page appointment sheetYour questions, the words you may hear, what to bring, and space for the answers. Print it.
- Treatment sequencingWhich treatment tends to follow which, line by line.
- NavigatorStandard of care for your stage, what you have tried, and trials near you.
- Retroperitoneum: The space at the back of the abdomen, behind the gut's lining, holding the kidneys, adrenals, pancreas, aorta and the para-aortic lymph nodes.
- Driver mutation: One of the few mutations in a tumour that actually causes it to grow.
Every term links to the glossary.