Anorectal melanoma with a KIT-activating mutation, which is a target for tyrosine kinase inhibitor.
Summary of "Anorectal melanoma with a KIT-activating mutation, which is a target for tyrosine kinase inhibitor."
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
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/21069551
- DOI: http://dx.doi.org/10.1007/s10147-010-0139-5
Anorectal melanoma is a rare malignancy of anorectal region. Often the diagnosis is delayed because of rare entity and confusion with benign disorders like haemorrhoids. There have been only a few cas...
Melanoma of the anorectal mucosa is a rare but highly aggressive tumor. Its presenting symptoms are frequently confused with hemorrhoids, thereby causing a delay in diagnosis. Anorectal melanoma carri...
Melanoma of the anorectum is a rare malignancy which is particularly aggressive compared to cutaneous melanoma. Due to its presenting symptoms, location and rarity there is often a delay in diagnosis....
Primary anorectal malignant melanoma is an exceptionally rare neoplasm associated with poor prognosis. Anorectal malignant melanoma has been very rarely described with coexisting primary tumors of the...
The receptor tyrosine kinase KIT and its ligand, stem cell factor (SCF), are essential for the proliferation and survival of normal melanocytes. In melanomas arising on mucosal, acral, and chronically...
To assess the efficacy in terms of overall survival of AZD6244 in combination with dacarbazine, compared with dacarbazine alone, in first line patients with BRAF mutation positive advance...
This study will examine the effects of spinal cord abnormalities on perioperative neurovesical dysfunction in patients with anorectal abnormalities.
The purpose of this study is to determine whether nilotinib is more efficacious than DTIC in the treatment of metastatic and/or inoperable melanoma harboring a c-Kit mutation.
The primary objective of this study is to compare the accuracy of esophageal and anorectal manometric pressure measurements using a newly developed air filled balloon catheter with present...
The purpose of this study is to evaluate efficacy of tyrosine as a treatment for methamphetamine dependence in an outpatient treatment setting providing group psychosocial interventions. ...
Medical and Biotech [MESH] Definitions
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.