In this slideshow, we highlight recently published research findings on newly identified genetic mutations associated with conjunctival melanoma, expanding the definition of melanoma to include population diversities, and dermatomyositis that fails treatment.
New genetic mutations discovered in conjunctival melanoma
Researchers writing in JAMA Ophthalmology say that whole exome sequencing might enable the detection of molecular mutations “targetable” by cancer therapies for conjunctival melanoma, an ocular cancer with few treatment options.
Little is known about the molecular pathogenesis of conjunctival melanoma, so this discovery is important because it may identify more treatment targets.
Researchers found that with whole-exome sequencing, mutations in genes associated with conjunctival melanoma were found in BRAF, NRAS, NF1, EGFR, APC, TERT and other cancer-associated genes with the most common chromosomal change was in 6p gain. In addition, the C to T mutation as shown in UV-induced DNA damage.
The findings are based on the whole-exome sequencing on tumors from five patients with conjunctival melanoma.
“These findings indicate a need for larger studies to evaluate the diagnostic, prognostic, and therapeutic value of whole exome sequencing for conjunctival melanoma,” researchers wrote.
Swarup S. Swaminathan, MD; Matthew G. Field, MS,; David Sant, et al. “Molecular Characteristics of Conjunctival Melanoma Using Whole-Exome Sequencing,” JAMA Ophthalmology. Published online November 9, 2017. doi:10.1001/jamaophthalmol.2017.4837
Interdisciplinary panel weighs in on sun safety
In a meeting convened by the National Academy of Sciences, a group of 19 physicians and researchers from different disciplines met to discuss sun safety issues centering on knowledge gaps between the disciplines, perspectives on sun exposure, implications for melanoma and other health outcomes, researchers write in JAMA Dermatology.
The group found that:
1. The definition of risk must be expanded to include population diversities.
2. Risky sun exposure often occurs with other health-related behaviors.
3. There should be different messages for different target audiences.
4. People who are at risk for tanning disorder must be recognized and treated.
5. Sun safety interventions must be scalable.
The physicians stated that new measures are needed to address the increased incidence of melanoma. Between 2007 and 2011, they wrote, 5 million adults were diagnosed with skin cancer annually at a cost of more than $8 billion.
“Further interdisciplinary research is needed to address the themes discussed, with the goal of building engaging, effective, and sustainable approaches to decrease the burden of skin cancer,” researchers wrote.
Alan C. Geller, MPH, RN; Nina G. Jablonski, PhD; Sherry L. Pagoto, PhD; et al. “Interdisciplinary Perspectives on Sun Safety,” JAMA Dermatology. Published online November 8, 2017. doi:10.1001/jamadermatol.2017.4201
Dermatomyositis increasingly failing treatment
Researchers writing in JAMA Dermatology find that most adult patients with dermatomyositis do not achieve satisfactory control of this disease, even with long-term aggressive therapy.
Dermatomyositis is an idiopathic inflammatory myopathy that manifests as inflammation of the skin, muscles, joints and lungs. It can lead to organ damage with extensive cutaneous disease. The skin is affected in cases of patients with classic myositis, patients who are clinically amyopathic, in patients who never develop muscle disease, and patients with persistent skin inflammation.
The goal of this study was to characterize the cutaneous disease course in adult patients.
Of 74 patients included in this prospective cohort study, 28 patients achieve clinical skin remission in a three-year follow-up period.
“Increasing age, having an associated malignancy, and treatment with mycophenolate mofetil were significantly associated with clinical remission of skin disease, while having anti–melanoma differentiation-associated gene 5 antibodies was significantly associated with worse outcomes,” researchers wrote.
Paige W. Wolstencroft, BA; Lorinda Chung, MD, MS; Shufeng Li, MS; et al. “Factors Associated With Clinical Remission of Skin Disease in Dermatomyositis,” JAMA Dermatology, online first, Nov. 7, 2017. DOI: 10.1001/jamadermatol.2017.3758