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| ID | Type | Description | Link |
|---|---|---|---|
| 23-380 | Other Identifier | Dana Farber/Harvard Cancer Center IRB |
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The goal of this observational study is to determine if a liquid biopsy (i.e. blood test) is an effective clinical tool for monitoring the development of malignant peripheral nerve sheath tumor (MPNST) among adults (18 years and older) with Neurofibromatosis Type 1 (NF1), compared to the current standard of care. The main questions it aims to answer are:
How effective is liquid biopsy compared to the current standard of care (clinical surveillance and imaging) for early detection of MPNST development among people with NF1? Can liquid biopsy offer a cost-effective method for early detection of MPNST in people with NF1? Also, can liquid biopsy provide earlier detection that potentially leads to better outcomes? Also, can offering liquid biopsy improve access to care for people experiencing barriers to access (such as minority populations or people in rural areas)?
At baseline, participants will be asked to:
Every six months during the five-year follow-up period, participants will be asked to:
If diagnosed with an MPNST by their healthcare provider during the follow-up period, participants will be asked to:
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Liquid biopsy for MPNST development | Diagnostic Test | Participants will be asked to complete a blood sample (liquid biopsy) at baseline (15 mL, approximately 1 tablespoon) and every 6 months (10 mL) for the five-year follow-up period. |
| Measure | Description | Time Frame |
|---|---|---|
| Timing of MPNST detection by liquid biopsy | Comparison will be made between date of clinical diagnosis versus the date when the tumor could be detected in a liquid biopsy sample. | From enrollment to the end of the five-year follow-up period |
| Measure | Description | Time Frame |
|---|---|---|
| Number of participants with new MPNST | New MPNST diagnosed by healthcare provider (Yes/No). The number of participants who develop an MPNST will be compared to the overall size of the cohort. | From enrollment to the end of the five-year follow-up period |
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Inclusion Criteria:
Exclusion Criteria:
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The study population will be adults with NF1 who live in the United States.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| David T Miller, MD, PhD | Contact | 617-355-8221 | david.miller2@childrens.harvard.edu | |
| Devika Kumar | Contact | 6173554517 | nf1-ted@childrens.harvard.edu |
| Name | Affiliation | Role |
|---|---|---|
| David T Miller, MD, PhD | Boston Children's Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Boston Children's Hospital | Recruiting | Boston | Massachusetts | 02115 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 28551330 | Background | Miettinen MM, Antonescu CR, Fletcher CDM, Kim A, Lazar AJ, Quezado MM, Reilly KM, Stemmer-Rachamimov A, Stewart DR, Viskochil D, Widemann B, Perry A. Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview. Hum Pathol. 2017 Sep;67:1-10. doi: 10.1016/j.humpath.2017.05.010. Epub 2017 May 24. | |
| 34176681 |
| Label | URL |
|---|---|
| Neurofibromatosis Type 1 Tumor Early Detection (NF1-TED) Study Page | View source |
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Investigators conducting the analysis at the end of the follow-up period will need access to IPD, but the plan to share IPD is not yet written.
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| ID | Term |
|---|---|
| D009456 | Neurofibromatosis 1 |
| D018318 | Neurofibroma, Plexiform |
| D018319 | Neurofibrosarcoma |
| ID | Term |
|---|---|
| D017253 | Neurofibromatoses |
| D009455 | Neurofibroma |
| D018317 | Nerve Sheath Neoplasms |
| D009380 | Neoplasms, Nerve Tissue |
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| ID | Term |
|---|---|
| D000073890 | Liquid Biopsy |
| ID | Term |
|---|---|
| D001706 | Biopsy |
| D003581 | Cytodiagnosis |
| D003584 | Cytological Techniques |
| D019411 | Clinical Laboratory Techniques |
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Fresh blood will be processed at receipt into blood products (e.g., plasma) or frozen whole. Plasma aliquots and frozen whole blood will be stored in a -80°C or -20°C freezer until distribution. Frozen tissue will be received, weighed, and banked in a liquid nitrogen vapor phase freezer. At the end of the study, selected blood and tissue samples may be pulled for nucleic acid extraction. Prior to extracting nucleic acid from tissue, a pathology quality control review will determine the %tumor and %necrotic tumor, as well as confirm concordance with the institutional diagnosis.
| Background |
| Klein EA, Richards D, Cohn A, Tummala M, Lapham R, Cosgrove D, Chung G, Clement J, Gao J, Hunkapiller N, Jamshidi A, Kurtzman KN, Seiden MV, Swanton C, Liu MC. Clinical validation of a targeted methylation-based multi-cancer early detection test using an independent validation set. Ann Oncol. 2021 Sep;32(9):1167-1177. doi: 10.1016/j.annonc.2021.05.806. Epub 2021 Jun 24. |
| 28899864 | Background | Chaudhuri AA, Chabon JJ, Lovejoy AF, Newman AM, Stehr H, Azad TD, Khodadoust MS, Esfahani MS, Liu CL, Zhou L, Scherer F, Kurtz DM, Say C, Carter JN, Merriott DJ, Dudley JC, Binkley MS, Modlin L, Padda SK, Gensheimer MF, West RB, Shrager JB, Neal JW, Wakelee HA, Loo BW Jr, Alizadeh AA, Diehn M. Early Detection of Molecular Residual Disease in Localized Lung Cancer by Circulating Tumor DNA Profiling. Cancer Discov. 2017 Dec;7(12):1394-1403. doi: 10.1158/2159-8290.CD-17-0716. Epub 2017 Sep 24. |
| 32642732 | Background | Pemov A, Li H, Presley W, Wallace MR, Miller DT. Genetics of human malignant peripheral nerve sheath tumors. Neurooncol Adv. 2019 Nov 28;2(Suppl 1):i50-i61. doi: 10.1093/noajnl/vdz049. eCollection 2020 Jul. |
| 36598417 | Background | Cortes-Ciriano I, Steele CD, Piculell K, Al-Ibraheemi A, Eulo V, Bui MM, Chatzipli A, Dickson BC, Borcherding DC, Feber A, Galor A, Hart J, Jones KB, Jordan JT, Kim RH, Lindsay D, Miller C, Nishida Y, Proszek PZ, Serrano J, Sundby RT, Szymanski JJ, Ullrich NJ, Viskochil D, Wang X, Snuderl M, Park PJ, Flanagan AM, Hirbe AC, Pillay N, Miller DT; Genomics of MPNST (GeM) Consortium. Genomic Patterns of Malignant Peripheral Nerve Sheath Tumor (MPNST) Evolution Correlate with Clinical Outcome and Are Detectable in Cell-Free DNA. Cancer Discov. 2023 Mar 1;13(3):654-671. doi: 10.1158/2159-8290.CD-22-0786. |
| 18559970 | Background | Mautner VF, Asuagbor FA, Dombi E, Funsterer C, Kluwe L, Wenzel R, Widemann BC, Friedman JM. Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1. Neuro Oncol. 2008 Aug;10(4):593-8. doi: 10.1215/15228517-2008-011. Epub 2008 Jun 17. |
| 28068329 | Background | Pemov A, Li H, Patidar R, Hansen NF, Sindiri S, Hartley SW, Wei JS, Elkahloun A, Chandrasekharappa SC; NISC Comparative Sequencing Program; Boland JF, Bass S; NCI DCEG Cancer Genomics Research Laboratory; Mullikin JC, Khan J, Widemann BC, Wallace MR, Stewart DR. The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas. Oncogene. 2017 Jun 1;36(22):3168-3177. doi: 10.1038/onc.2016.464. Epub 2017 Jan 9. |
| D009370 |
| Neoplasms by Histologic Type |
| D009369 | Neoplasms |
| D009386 | Neoplastic Syndromes, Hereditary |
| D020752 | Neurocutaneous Syndromes |
| D009422 | Nervous System Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D010524 | Peripheral Nervous System Neoplasms |
| D009423 | Nervous System Neoplasms |
| D005354 | Fibrosarcoma |
| D018218 | Neoplasms, Fibrous Tissue |
| D009372 | Neoplasms, Connective Tissue |
| D018204 | Neoplasms, Connective and Soft Tissue |
| D012509 | Sarcoma |
| D019937 |
| Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D013048 | Specimen Handling |
| D008919 | Investigative Techniques |