Track topics on Twitter Track topics that are important to you
Recent advances in our understanding of the genetic mutations associated with melanoma have led to the classification of distinct melanoma subtypes. A number of reports have consistently demonstrated that mucosal and acral melanomas more commonly harbor KIT-activating mutations than do other subtypes. Success in treating gastrointestinal stromal tumors with imatinib has led to speculation that KIT-mutated melanoma might also be effectively managed using this approach. A 78-year-old woman presented with a 4-month history of rectal bleeding. A colonoscopy revealed a black polypoid mass, 30 mm in diameter, originating near the dentate line, and a biopsy revealed malignant melanoma. Computed tomography showed multiple liver and lung metastases. A KIT mutation analysis showed the L576P mutation in exon 11. The patient did not want to undergo chemotherapy including a tyrosine-kinase inhibitor, so palliative radiotherapy for rectal symptoms was performed, but the patient died 4 months later due to disease progression. We describe the first case of anorectal melanoma with a KIT-activating mutation in Japan and summarize findings from the literature regarding the efficacy of KIT kinase inhibitors on this melanoma subtype.
Department of Gastroenterology, Kushiro City General Hospital, 1-12, Shunkodai, Kushiro, 085-0822, Japan.
This article was published in the following journal.
Name: International journal of clinical oncology / Japan Society of Clinical Oncology
We report our experience involving a case of relatively rare anorectal malignant melanoma with skipped lesion.
Whole-genome sequencing of matched germline and tumour pairs in a well characterised cohort of melanoma patients allowed investigation of associations between melanoma body site, age at melanoma onset...
The development of cutaneous melanoma is influenced by genetic factors, including BRAF mutations and environmental factors, such as ultraviolet exposure. Its progression has been also associated with ...
Melanoma has an extremely poor prognosis due to its rapidly progressive and highly metastatic nature. Several therapeutic drugs have recently become available, but are effective only against melanoma ...
Activating mutation of BRAF is a common finding in pediatric gliomas. As many as 14% of high grade and up to 66% of certain subtypes of low grade pediatric glioma have the BRAFV600E mutation. Small mo...
This phase II trial studies how well targeted therapy works in treating patients with incurable non-small cell lung cancer with a genetic mutation. Giving drugs that target other genetic m...
A study to assess the activity of tesevatinib in subjects with NSCLC and activating EGFR mutations (either exon 19 deletion or L858R mutation) and Brain Metastases (BM) or Leptomeningeal M...
This open-label, multi-center, three-period, one sequence study will investigate the effect of ketoconazole on the pharmacokinetics of vemurafenib in patients w ith unresectable BRAFV600-m...
This open-label, multi-center, three-period, one sequence study will investigate the effect of vemurafenib on the pharmacokinetics of digoxin in patients with u nresectable BRAFV600-mutati...
This is a two-part, Phase 1, open-label, multicenter, two-period, one-sequence study to investigate the effect of itraconazole and rifampin on the PK of vemurafenib following multiple 960 ...
An unpigmented malignant melanoma. It is an anaplastic melanoma consisting of cells derived from melanoblasts but not forming melanin. (Dorland, 27th ed; Stedman, 25th ed)
A 120-kDa RAS GTPase-activating protein that binds to tyrosine phosphoproteins through its SH2 domains. The 100-kDa RNA-splicing variant (p100 GAP protein) is expressed in placenta.
Experimentally induced tumor that produces MELANIN in animals to provide a model for studying human MELANOMA.
A cellular subtype of malignant melanoma. It is a pigmented lesion composed of melanocytes occurring on sun-exposed skin, usually the face and neck. The melanocytes are commonly multinucleated with a "starburst" appearance. It is considered by many to be the in situ phase of lentigo maligna melanoma.
Found in large amounts in the plasma and urine of patients with malignant melanoma. It is therefore used in the diagnosis of melanoma and for the detection of postoperative metastases. Cysteinyldopa is believed to be formed by the rapid enzymatic hydrolysis of 5-S-glutathionedopa found in melanin-producing cells.
Bladder Cancer Brain Cancer Breast Cancer Cancer Cervical Cancer Colorectal Head & Neck Cancers Hodgkin Lymphoma Leukemia Lung Cancer Melanoma Myeloma Ovarian Cancer Pancreatic Cancer ...
Melanoma is a highly malignant tumor of melanin-forming cells (melanocytes) There are most commonly found in the skin (resulting from sunlight exposure), but also in the eyes and mucous membranes. Metastasis to other regions of the body is also common....