RESUMO
Hydatid disease is a real public health problem in developing countries. Cerebral localization is rare; it does not exceed 2%. It is more frequent in children and adolescents. It is often primary in children. In adults, it is less frequent and generally associated with other localizations. We report the case of a 60-year-old Tunisian patient with pulmonary, hepatic and cerebral hydatid cyst, revealed by neurological symptoms with an expansive intracranial process on brain imaging.
RESUMO
Anaplastic thyroid carcinoma (ATC) is a rare malignancy with a poor prognosis. It is characterized by abrupt development with local and distant metastases. Metastases are essentially present in the lung. Pancreatic metastasis is extremely rare. The authors report that, to their knowledge, this is the first reported case of a patient who developed metachronous pancreatic metastasis related to ATC. Case Presentation: A 65-year-old woman, with a history of thyroidectomy, 2 years prior, for an anaplastic thyroid tumor presented in his regular follow-up computed tomography scan a hypodense lesion of the head of the pancreas. Definite diagnosis of neoplasm was difficult following the computed tomography-guided fine-needle aspiration biopsy. The patient had a cephalic duodenopanceatectomy with an uneventful recovery. Histopathology concluded in a pancreatic metastasis of ATC metastasis. The patient had uneventful outcomes with a follow-up of 3 months without tumor recurrence. Conclusion: Pancreatic metastases of thyroid carcinomas are extremely rare, particularly for ATC. The diagnosis of metastases is based on a regular follow-up. The prognosis is poor despite curative surgery.
RESUMO
Oncocytic carcinomas of the salivary glands are rare. The submandibular gland is a rare location. It is usually associated with a poor prognosis and recurrence after treatment. We report a case of a 52-year-old man with a lymph node and brain metastasis recurrence of an oncocytic carcinoma of the submandibular gland.
RESUMO
The stomach is rarely a metastatic site of other primary cancers. Gastric metastasis from colonic cancer is exceptional. We hereby report a case of a 54-year-old male patient who underwent a right hemicolectomy for right-sided colon cancer. The pathology exam revealed well differentiated adenocarcinoma, it was classified stage IIb. Regular controls performed including colonoscopy were normal. Four years after colectomy, the patient was admitted for hematemesis with epigastric pain with detoriation of general condition . Gastroscopy revealed a large ulceroproliferative mass in the antropyloric region. Histology showed that this tumor was an adenocarcinoma similar to the primary right colon cancer, which led to the diagnosis of metastatic gastric cancer originating from colon cancer.
RESUMO
Several syndromic forms of digestive cancers are known to predispose to early-onset gastric tumors such as Hereditary Diffuse Gastric Cancer (HDGC) and Lynch Syndrome (LS). LSII is an extracolonic cancer syndrome characterized by a tumor spectrum including gastric cancer (GC). In the current work, our main aim was to identify the mutational spectrum underlying the genetic predisposition to diffuse gastric tumors occurring in a Tunisian family suspected of both HDGC and LS II syndromes. We selected the index case "JI-021", which was a woman diagnosed with a Diffuse Gastric Carcinoma and fulfilling the international guidelines for both HDGC and LSII syndromes. For DNA repair, a custom panel targeting 87 candidate genes recovering the four DNA repair pathways was used. Structural bioinformatics analysis was conducted to predict the effect of the revealed variants on the functional properties of the proteins. DNA repair genes panel screening identified two variants: a rare MSH2 c.728G>A classified as a variant with uncertain significance (VUS) and a novel FANCD2 variant c.1879G>T. The structural prediction model of the MSH2 variant and electrostatic potential calculation showed for the first time that MSH2 c.728G>A is likely pathogenic and is involved in the MSH2-MLH1 complex stability. It appears to affect the MSH2-MLH1 complex as well as DNA-complex stability. The c.1879G>T FANCD2 variant was predicted to destabilize the protein structure. Our results showed that the MSH2 p.R243Q variant is likely pathogenic and is involved in the MSH2-MLH1 complex stability, and molecular modeling analysis highlights a putative impact on the binding with MLH1 by disrupting the electrostatic potential, suggesting the revision of its status from VUS to likely pathogenic. This variant seems to be a shared variant in the Mediterranean region. These findings emphasize the importance of testing DNA repair genes for patients diagnosed with diffuse GC with suspicion of LSII and colorectal cancer allowing better clinical surveillance for more personalized medicine.
