Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P10721 (c-kit)
 6,575 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 68-year-old woman underwent Miles' surgery with a diagnosis of a rectalgastrointestinalstromaltumor (GIST)in 2004. In 2005 and 2006, she developed liver metastases that were surgically removed, but once again in June 2006, she presented with liver metastasis, and imatinib therapy(400mg/day)was administered. In October 2016, she was diagnosed with progression of liver metastasis, and a tumor in the pancreatic body was identified on a CT scan. The patient was referred to our institution for treatment. We performed right hepatectomy and distalpancreatectomy in January 2017. Immunohistochemically, the recurrent tumor was positive for c-kit and CD34, and the diagnosis of GIST was confirmed. The pathological diagno- sis was a high-risk GIST showing 43mitoses per 50 high-power fields. Imatinib therapy(400mg/day)was administered after surgery. She is currently alive without recurrence.
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PMID:[Hepatic and Pancreatic Metastases of a Rectal Gastrointestinal Stromal Tumor in a Patient with Long-Term Survival following Combined Therapy-ACase Report]. 3091 40

Anorectal melanoma (ARM) is an uncommon aggressive malignancy that comprises 0.5% to 1.6% of all melanoma manifestations. Dedifferentiated melanoma is very rare with loss of all melanocytic differentiation markers and is usually seen in metastatic melanoma of cutaneous origin. In this article, we report the first case of primary dedifferentiated amelanotic ARM in a 68-year-old male who presented with anal discomfort that was initially treated as inflamed hemorrhoids. Physical examination revealed a large protruding anal mass, biopsy of which showed biphasic malignant tumor cells with distinct immunoprofiles: a superficial spindled/sarcomatoid component positive for SOX10 and S100, and a deeper epithelioid/rhabdoid component positive for desmin, AE1/AE3, and EMA. Both components were negative for HMB-45, Melan-A/MART-1, c-Kit, and other lineage markers. Molecular analysis by polymerase chain reaction demonstrated wild-type BRAF and KRAS genes. A diagnosis of dedifferentiated ARM was made based on the coexistence of a differentiated component (spindled: S100 and SOX10 positive) and a dedifferentiated component (epithelioid: all melanoma markers including S100 and SOX10 negative). Shortly afterwards, the patient developed extensive pulmonary and liver metastases and expired 20 days after the diagnosis was rendered, reinforcing the highly aggressive nature of this disease entity.
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PMID:Primary Dedifferentiated Amelanotic Anorectal Melanoma: Report of a Rare Case. 3123 38


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