Science Current Events | Science News | Brightsurf.com
 

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


Stem-cell-based therapy promising for treatment of breast cancer metastases in the brain
Investigators from Massachusetts General Hospital (MGH) and the Harvard Stem Cell Institute have developed an imageable mouse model of brain-metastatic breast cancer and shown the potential of a stem-cell-based therapy to eliminate metastatic cells from the brain and prolong survival.

Hundreds of cancer possibilities arise from common skin mole mutation
A Houston Methodist-led team of international scientists has identified hundreds of possible new genes in mice that could transform benign skin growths into deadly melanomas.

An end to cancer pain?
A new study led by University of Toronto researcher Dr. David Lam has discovered the trigger behind the most severe forms of cancer pain.

'Humanized' mice will lead to better testing of cancer immunotherapies
Human tumors grown in mouse models have long been used to test promising anti-cancer therapies.

Long non-coding RNA modulates colorectal cancer metabolism
Long non-coding RNAs (lncRNA) are unusual in that they don't encode proteins like normal RNA. Yet they do play a role in regulating cellular functions and interest cancer researchers.

Childhood cancer survivors more likely to claim social security support as adults
Children with cancer have a good chance of surviving the disease--today more than 80 percent survive because of advances in treatment and care.

Adjuvant Ipilimumab effects survival after high risk lymph node and melanoma resection
Results of an EORTC trial appearing in The Lancet Oncology show that adjuvant Ipilimumab significantly improves recurrence-free survival in patients with completely resected stage III melanoma at high risk of disease recurrence, but that this treatment was also associated with a high rate of immune-related adverse events.

New combo of immunotherapy drugs is safe, shrinks tumors in metastatic melanoma patients
Once again, researchers at Penn's Abramson Cancer Center have extended the reach of the immune system in the fight against metastatic melanoma, this time by combining the checkpoint inhibitor tremelimumab with an anti-CD40 monoclonal antibody drug.

Penn Medicine: Immunotherapy drug pembrolizumab shows promise for mesothelioma patients
The PD-1 inhibitor pembrolizumab, a cancer immunotherapy drug, shrank or halted growth of tumors in 76 percent of patients with pleural mesothelioma, a rare and deadly form of cancer that arises in the outer lining of the lungs and internal chest wall, according to a new study from researchers in the Perelman School of Medicine at the University of Pennsylvania.

Protein finding can pave the way for improved treatment of malignant melanoma
Today it is not possible to predict spreading from malignant melanomas. Melanoma metastases are furthermore extremely difficult to eliminate as traditional treatment such as chemotherapy and radiotherapy is mostly ineffective.
More Melanoma Current Events and Melanoma News Articles

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...

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...

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 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.

QuickFACTS Melanoma Skin Cancer: What You Need to Know-NOW

QuickFACTS Melanoma Skin Cancer: What You Need to Know-NOW
by American Cancer Society (Author)


This pocket-sized reference covers everything from the risk factors of melanoma skin cancer to the diagnosis procedure to living well after treatment. With greater public awareness, early detection of melanoma skin cancer is on the rise and mortality rates are declining; this medical guide emphasizes that all patients should be well-informed decision makers in planning their own treatment and is updated with the latest patient treatment guidelines. An advanced dictionary of cancer-related terms and a list of critical questions to ask health care administrators are also included.

100 Q & AS ABOUT MELANOMA  &  OTHER SKIN CANCERS

100 Q & AS ABOUT MELANOMA & OTHER SKIN CANCERS
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.

Cancer Survivorship Coping Tools - We'll Get you Through This: Tools for Cancer's Emotional Pain From a Melanoma and Breast Cancer Survivor

Cancer Survivorship Coping Tools - We'll Get you Through This: Tools for Cancer's Emotional Pain From a Melanoma and Breast Cancer Survivor
by Barbara Tako (Author)


Hearing the words “You have cancer” can be devastating—some cancer patients even say that the emotional pain and loss of certainty from hearing this are worse than the pains from the cancer, surgeries, radiation, chemotherapy, and other treatments. This is the intimate journey of a melanoma and breast cancer survivor who honestly, and sometimes even humorously, shares her own story and offers supportive emotional tools to help people diagnosed with cancer, and their loved ones and caregivers, work through the emotional pain and upheaval of a cancer diagnosis. You will be supported in knowing what it feels like to hear you have cancer and be given a variety of helpful ideas to start feeling better whether you are newly diagnosed, in treatment, or months or years after treatment. If...

I Survived Metastacised Melanoma Cancer!: Hope For Melanoma Sufferers

I Survived Metastacised Melanoma Cancer!: Hope For Melanoma Sufferers
by Frank E. Burdett (Author)


I know the importance of the individual experience of metastacised melanoma cancer, because it is a very special journey. People are prone to forget, such as when one forgets they have a finger, until they hit it; people also forget they have a life until it is very seriously threatened. The worst sentence in this world that a doctor can pronounce is, "I am sorry, but the medical profession can do nothing further for you" This work explores how my wife, Jeannie, who was my home caregiver, and I travelled the cancer journey together. The journey was not the same for Jeannie as it was for me-it was my melanoma cancer, but I was Jeannie's husband, and therefore the stress was that much more for her, as she never knew what further stresses she had to face. This book examines the strengths of...

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...

© 2015 BrightSurf.com