Anorectal melanoma with a KIT-activating mutation, which is a target for tyrosine kinase inhibitor.

03:10 EST 24th November 2014 | BioPortfolio

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.

Affiliation

Department of Gastroenterology, Kushiro City General Hospital, 1-12, Shunkodai, Kushiro, 085-0822, Japan.

Journal Details

This article was published in the following journal.

Name: International journal of clinical oncology / Japan Society of Clinical Oncology
ISSN: 2547-7772
Pages:

Links

PubMed Articles [10450 Associated PubMed Articles listed on BioPortfolio]

Surgical and radiation therapy management of recurrent anal melanoma.

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...

Anorectal melanoma: not a haemorrhoid.

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....

KIT is a Frequent Target for Epigenetic Silencing in Cutaneous Melanoma.

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...

Novel R634W c-kit Mutation Identified in Familial Mastocytosis.

Familial mastocytosis is a well-documented but rare entity, with fewer than 100 cases reported in the literature. The etiology has most commonly been linked to activating c-kit mutations, with several...

Primary anorectal melanoma.

Primary malignant melanoma of the anus and rectum is a rare and aggressive neoplasm that tends to invade locally and metastasize early in the course of the disease. It is often misdiagnosed as hemorrh...

Clinical Trials [1936 Associated Clinical Trials listed on BioPortfolio]

A Pharmacokinetics Study to Investigate the Effect of Ketoconazole on Vemurafenib in Patients With BRAFV600 Mutation-Positive Metastatic Melanoma

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...

A Pharmacokinetics Study to Investigate the Effect of Vemurafenib on Digoxin in Patients With BRAFV600 Mutation-Positive Metastatic Melanoma

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...

A Pharmacokinetics Study to Investigate the Effect of Rifampin on Vemurafenib in Patients With BRAFV600 Mutation-Positive Metastatic Malignancy

This open-label, multi-center, three-period, one sequence study will investigate the effect of rifampin on the pharmacokinetics of vemurafenib in patients with unresectable BRAFV600-mutati...

Comparison of In-House Methods and Cobas BRAF V600 Mutation Assay in Melanoma Tumor Samples

This non-interventional study will compare the Cobas BRAF V600 mutation assay wi th in-house methods used in molecular laboratories for the assessment of the BRA F mutation status in melan...

Comparison of AZD6244 in Combination With Dacarbazine Versus (vs) Dacarbazine Alone in BRAF Mutation Positive Melanoma Patients

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...

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.

Search BioPortfolio:
Loading
Advertisement

Relevant Topic

Cancer
Latest News Clinical Trials Research Drugs Reports Corporate
Cancer is a condition where cells in a specific part of the body grow and reproduce uncontrollably. The cancerous cells can invade and destroy surrounding healthy tissue, including organs.  Cancer sometimes begins in one part of the body before spre...

Advertisement