Science Current Events | Science News |

Ohio State researchers discover hereditary predisposition of melanoma of the eye

December 16, 2011

COLUMBUS, Ohio - Ohio State University researchers have discovered a hereditary cancer syndrome that predisposes certain people to a melanoma of the eye, along with lung cancer, brain cancer and possibly other types of cancer.

The hereditary cancer syndrome is caused by an inherited mutation in a gene called BAP1, researchers say.

The findings suggest that BAP1 mutations cause the disease in a small subset of patients with hereditary uveal melanoma and other cancers.

Uveal melanoma is a cancer of the eye involving the iris, ciliary body, or choroid, which are collectively known as the uvea. These tumors arise from the pigment cells, also known as melanocytes that reside within the uvea giving color to the eye. This is the most common type of eye tumor in adults.

The findings are reported in the Journal of Medical Genetics.

"We are describing a new cancer genetic syndrome that could affect how patients are treated," said first author Dr. Mohamed H. Abdel-Rahman, researcher at the Ohio State University Comprehensive Cancer Center - Arthur G. James Cancer Hospital and Richard J. Solove Research Institute. "If we know that a patient has this particular gene mutation, we can be more proactive with increased cancer screenings to try to detect these other potential cancers when they are beginning to grow."

Study leader Dr. Frederick H. Davidorf, professor emeritus of ophthalmology at Ohio State University, explained that BAP1 seems to play an important role in regulating cell growth and proliferation, and that loss of the gene helps lead to cancer.

"If our results are verified, it would be good to monitor these patients to detect these cancers early when they are most treatable," said Davidorf, who treats ocular oncology patients at Ohio State along with researcher and physician Dr. Colleen Cebulla.

The study involved 53 unrelated uveal melanoma patients with high risk for hereditary cancer, along with additional family members of one of the study participants. Of the 53 patients in the study, researchers identified germline variants in BAP1 in three patients.

"We still don't know exactly the full pattern of cancers these patients are predisposed to, and more studies are needed," said Abdel-Rahman, also an assistant professor of ophthalmology and division of human genetics at Ohio State University College of Medicine.

"So far, we've identified about six families with this hereditary cancer syndrome. We are working with researchers at Nationwide Children's Hospital to develop a clinical test to screen for the BAP1 gene mutation," he said. "Families with this cancer syndrome should be screened for inherited mutations that increase their risk for developing several other cancers."

Ohio State University Medical Center

Related Melanoma Current Events and Melanoma News Articles

Pembrolizumab in advanced melanoma: Added benefit for certain patients
Pembrolizumab (trade name: Keytruda) has been approved since July 2015 for adults with advanced melanoma that can no longer be surgically removed or has already formed metastases.

Intelligent gel attacks cancer
A new injectable 'biogel' is effective in delivering anti-cancer agents directly into cancerous tumours and killing them.

UTSW research finding could lead to targeted therapies for inflammatory bowel diseases
UT Southwestern Medical Center researchers have shown that a pathogen-sensing molecule plays a vital role in keeping gastrointestinal (GI) systems healthy.

Melanoma's genetic trajectories are charted in new study
An international team of scientists led by UC San Francisco researchers has mapped out the genetic trajectories taken by melanoma as it evolves from early skin lesions, known as precursors, to malignant skin cancer, which can be lethal when it invades other tissues in the body.

Targeted treatment produces rapid shrinkage of recurrent, BRAF-mutant brain tumor
A team led by Massachusetts General Hospital (MGH) investigators has reported the first successful use of a targeted therapy drug to treat a patient with a debilitating, recurrent brain tumor.

A newly discovered tumor suppressor gene affects melanoma survival
Of the hundreds of genes that can be mutated in a single case of melanoma, only a handful may be true "drivers" of cancer. In research that appeared today in Nature Genetics, a Weizmann Institute of Science team has now revealed one of the drivers of a particularly deadly subset of melanomas - one that is still seeing a rise in new cases.

Autophagy works in cell nucleus to guard against start of cancer
Autophagy, literally self-eating or the degradation of unwanted cellular bits and pieces by the cell itself, has been shown for the first time to also work in the cell nucleus.

Radiotherapeutic bandage shows potential as treatment for skin cancer
A radiotherapeutic bandage is being evaluated by researchers for efficacy against squamous cell carcinoma (SCC) in an animal model.

Massive screen of drug combinations may find treatment for resistant, BRAF-mutant melanoma
A team of Massachusetts General Hospital (MGH) investigators has discovered a new combination of drugs that may be effective against one of the deadliest cancers, malignant melanoma.

Nivolumab in melanoma: Added benefit in certain patients
Nivolumab (trade name: Opdivo) has been approved since June 2015 for adults with advanced melanoma. The German Institute for Quality and Efficiency in Health Care (IQWiG) examined in a dossier assessment whether this drug offers an added benefit over the appropriate comparator therapy.
More Melanoma Current Events and Melanoma News Articles

Melanoma- Not Just Skin Cancer

Melanoma- Not Just Skin Cancer
by Catherine M. Poole (Author)

All cancer diagnoses are terrifying, but a melanoma diagnosis is both frightening and confusing. When Catherine M. Poole learned she had melanoma twenty-five years ago, she found that most of the literature on melanoma focused on prevention. To add to her understandable alarm, she couldn’t find clear, concise information on treatment options. Poole wanted to be an informed patient, but she had no resources. She survived melanoma and has become a dedicated activist for melanoma research and a staunch patient advocate. Her new book, Melanoma: Not Just Skin Cancer, is a comprehensive guide to melanoma treatments. She tells her own survival story, as well as the stories of others. Since 2012, scientific advances have allowed even those with stage IV melanoma to survive and thrive. Poole...

Beating Melanoma: A Five-Step Survival Guide (A Johns Hopkins Press Health Book)

Beating Melanoma: A Five-Step Survival Guide (A Johns Hopkins Press Health Book)
by Steven Q. Wang (Author)

Dr. Steven Q. Wang, a world-renowned skin cancer expert, provides an essential guide for people with melanoma and their families. The book’s unique, practical format approaches the disease in two phases, just as people with melanoma need to do. First comes a step-by-step guide for what Dr. Wang calls the "mad rush" phase―an intense and stressful period from diagnosis to completing initial treatment. Dr. Wang's calm guidance helps readers through this critical time, using an easy to understand plan for ensuring optimal treatment and survival outcomes. Once the mad rush phase is over, the "marathon phase" begins―life resumes its normal shape but with lingering concerns about new melanoma and metastases. Here Dr. Wang addresses common questions about prevention and prognosis. Beating...


by Edward F. McClay (Author), Mary-Eileen T. McClay (Author)

Whether you're a newly diagnosed skin cancer patient, a survivor, or a friend of either, this book offers help. The only text to provide the doctor and a patient's view, 100 Questions & Answers About Melanoma and Other Skin Cancers gives you authoritative, practical answers to your questions about treatment options, post-treatment quality of life, sources of support, and much more. Written by two skin healthcare professionals and a melanoma survivor, this book is an invaluable resource for anyone coping with the physical and emotional turmoil of this frightening disease.

Understanding Melanoma

Understanding Melanoma
by Md, Perry Robins (Author), Md, Maritza Perez (Contributor)

This valuable handbook, written by two renowned dermatologists, is for melanoma patients, their families, friends, health professionals, and every person interested in staying healthy. Complete with fullcolor photographs, a specially compiled list of support groups and services, and a glossary.

The Melanoma Book: A Complete Guide to Prevention and Treatment, Including theEarly DetectionSelf-Exam Body Map

The Melanoma Book: A Complete Guide to Prevention and Treatment, Including theEarly DetectionSelf-Exam Body Map
by Howard L. Kaufman (Author)

From the founder and Co-Director of the renowned Columbia University Melanoma Center, the first comprehensive guide to help you prevent—and survive—a diagnosis of melanoma. The fastest rising form of cancer worldwide, melanoma can strike at any age. Although rates of cure are higher than they used to be, experts often disagree about the best course of treatment and patients face a bewildering array of possibilities—often with precious little time to choose. Drawing on his years as one of the nation’s foremost researchers and specialists in the field of melanoma treatment, Dr. Howard L. Kaufman shares his easy- to-follow, whole-life plan for detecting melanoma early, making informed decisions after a diagnosis, and taking an active role in treatment.

Histological Diagnosis of Nevi and Melanoma

Histological Diagnosis of Nevi and Melanoma
by Guido Massi (Author), Philip E. LeBoit (Author)

The interpretation of melanocytic tumors represents probably the most difficult task in the field of dermatopathology. The second edition of this text and atlas depicts a broad range of the most important and most challenging melanocytic lesions. Each individual case is illustrated with at least three high-quality color photographs and is commented on at length, highlighting the diagnostic clues. The goal of the authors is to assist the ordinary pathologist in making a precise workable diagnosis in their daily practice. They achieve this by providing simple criteria that will serve as a sound basis for an unequivocal diagnosis of either a benign or a malignant melanocytic neoplasm. The reader will find Histological Diagnosis of Nevi and Melanoma to be an invaluable guide to correct...

Melanoma (Cancer Treatment and Research)

Melanoma (Cancer Treatment and Research)
by Howard L. Kaufman (Editor), Janice M. Mehnert (Editor)

Melanoma is one of the most types of cancer. When melanoma is detected at an early stage, treatment is highly successful, but outcomes can be poor when the disease is advanced. There has been significant progress in our understanding of the molecular biology, genetics, and immunology of melanoma over the past decade. This has been accompanied by rapid advances in therapeutic strategies for patients with melanoma. This book provides the clinician and the researcher with a broad understanding of the molecular and cellular pathogenesis of melanoma, explores the clinical characteristics and criteria for clinical and pathological staging of the disease, and provides an overview of current and evolving treatment strategies in the adjuvant, metastatic, and preventive settings. The treatment of...

NCCN Guidelines for Patients®: Melanoma

NCCN Guidelines for Patients®: Melanoma
by National Comprehensive Cancer Network® (NCCN®) (Author)

From the medical leaders of 25 of the world’s most renowned cancer centers united under the National Comprehensive Cancer Network® (NCCN®), comes this essential guide to melanoma. Adapted from clinical treatment guidelines used by physicians and oncology professionals around the world, these NCCN Guidelines for Patients® are packed with the latest information, treatment innovations, and resources about the diagnosis and treatment of melanoma. Each patient-friendly chapter prepares patients and caregivers to talk with their doctors and make treatment decisions. Let this authoritative handbook be your guide! Part 1 – Explains the growth and spread of melanoma skin cancer Part 2 – Describes suggested tests used to confirm melanoma and plan treatment Part 3 – Explains how doctors...

A Melanoma Patient's Survival Guide: Lemons Really Do Make Lemonade: You Just Have to Add a Little Sugar

A Melanoma Patient's Survival Guide: Lemons Really Do Make Lemonade: You Just Have to Add a Little Sugar
by Sally Welsh (Author)

A Melanoma Patient’s Survival guide: Lemons Really Do Make Lemonade is an effort to bring awareness to the subject of melanoma. This insidious disease is being diagnosed in over 50,000 people a year in the United States alone. Melanoma will affect one in seventy-five people in California. That rate goes up each year. Melanoma can be a silent killer. This heart-warming book was written by a survivor of serious melanoma, Sally Welsh. Sally has shared her experience with thousands of people, and has prepared this book with the hope of making your journey a little easier. Her suggestions deal first of all with the questions you need to ask your doctor, before he cuts into you. You need to know about his initial scanning of you, whether he plans to use a “punch” biopsy or a “scrape”...

The Ribbon Is Black for a Reason : How Melanoma Changed My Life in Four Short Months

The Ribbon Is Black for a Reason : How Melanoma Changed My Life in Four Short Months
by AuthorHouse

In 1997 Jerry Galusha had a mole removed from his back left calf. The mole had changed which caused concern. It was biopsied and determined to be malignant. The mole was surgically removed and after a short recovery period it was all but forgotten. Yearly skin and lymph node checks kept his concerns about melanoma at bay until an unusual, relentless pain in the back of his head led to an MRI that unvailed the horrible truth; Jerry had stage IV metastisized malignant melanoma. His cancer had spread, undetected, all throughout his body over the course of that 13 years. Jerry's illness taught his friends and family the meaning of unconditional love. This is the story of the love, support, courage and devotion of a family and community to Jerry Galusha during the 4 months of the remainder of...

© 2015