ABSTRACT
Gastrointestinal stromal tumors (GISTs) represent a malignant gastrointestinal tumor of neurofibromatosis type 1 (NF1) Von Recklinghausen disease. In the current case, we report a 27-year-old woman with NF1, who presented with a lower abdominal mass, symptomatic anaemia, and significant weight loss. We employed multiple approaches to assess the tumor behavior, including computed tomography (CT) scan, surgical tumor resection, histological and immunohistochemical analysis and gene sequencing. Additionally, the patient was given Imatinib mesylate (Gleevec) as adjuvant therapy. CT scan delineated a large thick wall cavity lesion connecting to the small bowel segment. Resection of the tumor yielded a mass of 17 cm × 13 cm with achievement of safety margins. The diagnosis was GIST, confirmed by immunohistochemical expression of CD117, CD34, and Bcl-2. Sequencing revealed no mutations in either KIT or platelet-derived growth factor receptor-alpha, genes which are mutated in over 85% of sporadic GIST cases. Further, there was no evidence of recurrence, metastasis or metachronous GIST for over three years in our patient. From our analyses, we believe selective genotyping is advisable for high risk patients to predict potential tumor behavior.
ABSTRACT
Metastasis to the breast from extra-mammary tumors is rare with only a few sporadic cases reported. We present a 58-year-old female patient diagnosed with renal cell carcinoma. Five years ago she had a radical nephrectomy and was free of disease, then discovered solitary breast mass following self-examination. The patient presented to the breast clinic for evaluation whereupon the breast mass was identified on physical and radiological examinations. Fine needle aspiration was diagnostic of metastatic renal cell carcinoma and subsequent imaging studies demonstrated multiple pulmonary deposits and recurrent renal mass in the tumor bed of the diseased site. In a multidisciplinary clinic, the patient was elected for excision biopsy followed by systemic tyrosine kinase inhibitor therapy. Six months later she had brain metastasis and received whole brain irradiation followed by palliative therapy. We are presenting this rare case with the aim of increasing awareness of breast secondaries.
ABSTRACT
Malignant myoepithelioma is a very rare salivary gland tumor that can arise de novo or within a pre-existing pleomorphic adenoma. We report a case of malignant myoepithelioma most probably arising in a pre-existing pleomorphic adenoma of the left parotid gland. The patient was a 60-year-old man who presented with a multinodular mass lesion over left side of the face and neck. He had undergone removal of a pleomorphic adenoma of the left parotid gland twice (8 and 22 years ago). Histological examination showed locally concentrated highly invasive myoepithelial cells with bland-looking morphology and no evidence of mitosis or necrosis. Immunohistochemistry confirmed the myoepithelial differentiation (S- 100+, SMA+) and a low Ki-67 labeling index (<5%).
