Tumor Biopsy

A biopsy maybe taken at the time of a patient’s initial tumor treatment is highly recommended. The newly diagnosed patient should inquire with they’re treating surgeon/oncologist about obtaining a fine-needle biopsy. The biopsy material can be used for testing for class of the tumor and for genetic markers.

First, to test for genetic sequencing to determine the “Class” of the patient’s tumor (meaning “aggressive” or “less aggressive”). This information is important in setting a schedule for scans and blood work over the first few years after initial treatment. Additionally, a second fine-needle biopsy can be used for DNA Genetic Testing. The results of this type of test may yield knowledge of gene mutations the patient’s OM tumor carries. The goal for this testing is to provide access for OM patients into clinical trials as well as to identify possible personalized targeted therapies. As with all treatment recommendations, second opinions are always an option for patients seeking initial treatment advice.





Dr. Brenda Gallie, an internationally recognized leader in retinoblastoma genetics, biology and clinical care founded Impact Genetics’ team in 1999.

Over the next two decades, our clinical tests for hereditary and somatic ocular cancer gained the trust of medical specialists around the world because of the quality of our lab work, focused expertise in those diseases and excellent service.

With the ongoing support and guidance from our medical advisers (Dr. Bertil Damato, Dr. Tara McCannel and Dr. Hatem Krema), Impact Genetics has created the most comprehensive and individualized Uveal Melanoma prognostic test available.
Impact Genetics offers comprehensive testing for Uveal Melanoma including:

1.Impact Genetics Uveal Melanoma Prognostic Genetic Test

  • Copy number DNA testing using MLPA on chromosomes 1, 3, 6 and 8 to detect monosomy, disomy and trisomy.
  • Microsatellite analysis (MSA) on chromosome 3 to detect loss of a chromosome copy and isodisomy.
  • Sequencing of SF3B1, EIF1AX, GNAQ and GNA11 to detect frequently occurring mutations in UM for confirmation of tumor sampling.
  • Individualized survivorship predictions are provided which uses the individual patient’s genetic results, tumor size, patient demographics and cytology.

2. Uveal Melanoma Prognostic Genetic test results disclosure
Ordering ocular oncologists can refer patients to a board certified genetic counselor who leads patients through a discussion to review the results of their Impact Genetics prognostic Uveal Melanoma tumor test.

  • Review the genetic tests that were performed on the Uveal Melanoma tumor sample.
  • Discuss the implications of the prognostic genetic testing results including individual survivorship prediction results.
  • Explain benefits and limitations of the test results and their interpretation.

3. BAP1 Tumor predisposition Syndrome (BAP1-TPDS) germilne (hereditary) genetic testing

  • In persons with uveal melanoma who have a family history of uveal melanoma there is a 20%-30% chance these patients have an underlying BAP1 germline mutation.
  • Because of the increased aggressiveness of BAP1-related uveal melanoma, all uveal melanomas should be managed as the more aggressive monosomy 3 tumors.
  • Mutations in BAP1 cause a novel cancer syndrome which is characterized by early age onset of benign melanocytic skin tumors, and later in life by a high incidence of mesothelioma, uveal melanoma, cutaneous melanoma, renal cell carcinoma and additional cancers.
  • BAP1 carriers have a 50% chance to pass this cancer predisposition to each of their children.

4. Bap1-TPDS Genetic counseling Services

The genetic counselor will lead patients through a discussion to evaluate their personal medical history for relevant information, review family history and construct a family tree.

The genetic counselor will use this information in order to:

  • Evaluate a patient’s risk for cancer and their risk to be a carrier for genes that cause hereditary cancer, including BAP1-TPDS
  • Discuss the genetic testing options that may be appropriate
  • Explain the potential results of testing and what those results may mean in the context of the patient’s family history
  • Provide an overview of screening and medical management options, as appropriate

Coming 2018

Comprehensive Uveal Melanoma Next Generation Tumor Panel – Next Generation Sequencing

Molecular analysis looking for point mutations in 5 genes commonly associated with Uveal Melanoma (BAP1, SF3B1, EIF1AX, GNAQ, GNA11) are analyzed within the UM tumor tissue.




Castle Biosciences, Inc. is dedicated to the advancement of care for patients with uveal and cutaneous melanoma by providing molecular testing services to guide patient management and improve net health outcomes. The DecisionDx®-UM gene expression profile (GEP) test was developed by Dr. Bill Harbour, one of the world’s leading physician-scientists in ocular oncology, and has been clinically available from Castle Biosciences’ laboratory since 2010. For more information on DecisionDx-UM, visit http://www.MyUvealMelanoma.com or call 866-788-9007.

The DecisionDx-UM GEP test

  •  DecisionDx-UM is a 15-GEP test that is performed on a small amount of tissue from                the primary uveal melanoma tumor (PMID: 20413675)
  • The activity or “expression” of certain genes from each tumor is used to generate a result of either a Class 1A (low risk of metastasis), Class 1B (intermediate risk of metastasis) or Class 2 (high risk of metastasis)
  • To date, the technical success rate of DecisionDx-UM is greater than 96%

DecisionDx-UM as a standard-of-care test in uveal melanoma patient care in the U.S.

  • DecisionDx-UM is used by the majority of physicians who treat uveal melanoma in the United States and has been ordered by 283 physicians since 2010
  • Approximately 74% of newly diagnosed patients in the United States receive the test as part of their clinical care
  • More than 6,900 patients have received a DecisionDx-UM test result since 2010

DecisionDx-UM is the most rigorously validated prognostic test for uveal melanoma

  • DecisionDx-UM is the only prognostic test for uveal melanoma that has been prospectively validated in several multi- and single-center studies (PMIDs: 22521086, 27446211, 26596399, 24270974), in addition to retrospective validation (PMIDs: 22541662, 27123792)
  • DecisionDx-UM is the only prognostic test for uveal melanoma that has published data on technical reliability and success (PMID: 28778171)
  • DecisionDx-UM results are used to guide clinical decision-making on surveillance, referrals, and adjuvant therapy consideration (PMIDs: 27446211, 25587217)

DecisionDx-PRAME and DecisionDx-UMSeq

  • Since October 2016, Castle Biosciences has been offering DecisionDx®-PRAME, which evaluates whether a uveal melanoma is positive or negative for PRAME expression, which may provide additional prognostic information (PMID: 27486988)
  • At the end of 2017, Castle Biosciences will begin offering a next-generation sequencing panel (DecisionDx®-UMSeq) to evaluate driver mutations in uveal melanoma, which may be useful for future therapy selection




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University of Pennsylvania Perlman School of Medicine