RESUMEN
Determination of microsatellite instability (MSI)/mismatch repair (MMR) status in cancer has several clinical implications. Our aim was to integrate MSI/MMR status from patients tested in Greece to assess the prevalence of MSI-high (MSI-H)/deficient MMR (dMMR) per tumor type, testing patterns over time and concordance between MSI and MMR status. We retrospectively recorded MSI/MMR testing data of patients with diverse tumor types performed in pathology and molecular diagnostics laboratories across Greece. Overall, 18 of 22 pathology and/or molecular diagnostics laboratories accepted our invitation to participate. In the 18 laboratories located across the country, 7916 tumor samples were evaluated for MSI/MMR status. MSI/MMR testing significantly increased in patients with colorectal cancer (CRC) and other tumor types overtime (p < 0.05). The highest prevalence was reported in endometrial cancer (47 of 225 patients, 20.9%). MSI-H/dMMR was observed in most tumor types, even in low proportions. Among 904 tumors assessed both for MSI and MMR status, 21 had discordant results (overall discordance rate, 2.3%). We reported MSI-H/dMMR prevalence rates in patients with diverse cancers, while demonstrating increasing referral patterns from medical oncologists in the country overtime. The anticipated high rate of concordance between MSI and MMR status in paired analysis was confirmed.
RESUMEN
Ectopic or accessory breast tissue may occur in primitive embryonic milk lines or locations other than the milk line. The same pathology arising in breast tissue may occur less frequently in ectopic breast tissue. Fibroadenomas rarely occur in ectopic breast tissue, with less than 50 reported cases in the English literature, despite being the most common benign breast neoplasms. Diagnosing fibroadenoma in ectopic breast tissue can be challenging due to the lack of clinical suspicion and the atypical findings in imaging studies. Treatment consists of surgical excision. In this manuscript, we present a case of a 24-year-old patient with a fibroadenoma of the left axilla arising in bilateral axillary ectopic breast tissue, and we comprehensively review the literature.
RESUMEN
Paragangliomas are rare lesions of the endocrine system that can be treated either by embolization preoperatively followed by surgical excision or by surgical excision or radiotherapy. In this report, we present an extremely rare location of a nonfunctional paraganglioma in the head and neck region, located in the right supraclavicular fossa, which was misdiagnosed as a thyroid tumor, in a 72-year-old female patient. Imaging revealed a 2.5 × 4.5 × 2 cm well-defined vascularized mass. Fine-needle aspiration (FNA) on the tumor was not diagnostic initially; however, a third attempt revealed thyroid cells suggesting the existence of an ectopic thyroid tumor. FNA was additionally performed on the right thyroid lobe, revealing atypical follicular colloid cells of the Bethesda 3 category. Therefore, the excision of the ectopic thyroid tumor along with right lobectomy was planned. No embolization was initiated preoperatively in this case. Histopathology revealed that the supraclavicular mass was a paraganglioma. Paragangliomas supplied by the subclavian, innominate, and common carotid artery are rarely reported, and to our knowledge, this is the third case to be reported worldwide.
RESUMEN
BACKGROUND: Menetrier's disease is a rare hyperproliferative protein-losing gastropathy of the gastric foveolar epithelium. It is characterized by giant hypertrophic folds, excess mucus secretion, decreased acid secretion and hypoproteinemia due to selective loss of serum proteins across the gastric mucosa. The discovery of transforming growth factor-α overexpression opened the way of epidermal growth factor receptor blockade with cetuximab as first-line treatment modality for Menetrier's disease. CASE REPORT- ETHODS: We present the case of a 46-year-old female patient with Menetrier's disease. The diagnosis was based on clinical, endoscopic and histological criteria. Two years before the diagnosis of the disease the patient had an episode of deep vein thrombosis and pulmonary embolism. Real time PCR revealed mutation of the gene responsible for coagulation factor II. The patient received anticoagulation therapy and after a period of 6 months a severe anemia due to a gastrointestinal bleeding was presented. The appropriate investigation revealed the presence of Menetrier's disease. The patient was referred to the surgical clinic with persistence of symptoms such as excessive weight loss, anemia and weakness, even after multiple medical treatment, including the monoclonal antibody against the EGFR receptor. A total gastrectomy was performed and the postoperative course was uneventful. One year follow up showed remarkable improvement of her health status. CONCLUSION: A combination of clinical, laboratory, endoscopic and histopathologic findings is necessary for the diagnosis of this rare disease. Gastrectomy is the treatment of choice for those patients with intractable symptoms and signs refractory to medical therapy.