Gastrointestinal Stromal Tumors, Identification of C-Kit Mutation and Differential Diagnosis

Background: Prior to the recognition of C-Kit mutations, GIST were most commonly classified as leiomyoma, leiomyosarcoma, leiomyoblastoma or Autonomic nervous system gastrointestinal tumor. This is why, for the accurate histologic diagnosis of these tumors, it is necessary to record the C-Kit mutation and to identify some other molecular markers that help in differential diagnosis. C-Kit mutation detection is a criterion for morphologic diagnosis and also it serves as a predictive factor for determining the therapy with Imatinib (Glivec) if it is present in these tumors.Objectives: Evaluation of 49 cases of C-Kit mutations and differential diagnosis assessment by IHC examinations.Material and Methods: The study is a retrospective cohort type. 49 patients was evaluated the C-Kit mutation and further IHC examinations for differential diagnosis with other similar lesions. For this purpose the immunoreactivity for CD117, CD34, Actin, Desmin, S100 was evaluated. In these cases, the proliferative index with Ki67 was also evaluated as a prognostic factor together with the tumor diameter and presence or not of necrosis.Results: In the cases studied the presence of c-kit mutation (CD117 positive) was detected in 97% of the examined cases, CD34 was found positive in 77% of the examined cases, SMA was found positive in 34% of the examined cases, Desmin was found positive in 17% of the examined cases, S100 was found positive in 7% of the examined cases. Ki67 resulted to be on average 17.6% in cases with mitotic index> 5/50 HPF and on average 5.7% in cases with mitotic index <5/50% HPF Conclusions: Most of the mesenchymal tumors in the gastrointestinal system are Gastrointestinal Stromal type. This tumor is diagnosed in most cases if C-Kit mutation (positive immunoreactivity for CD117) is identified. Other immunostains like CD34, SMA, Desmin,  S100, help in the diagnose by differentiating this tumor from other histologically similar lesions. Proliferative index determination by Ki67 serves for the differentiation of these tumors into two prognostic categories. Keywords: GIST, C-KIT mutations, differential diagnosis, malignant behavio

Lymphoepithelioma-like Gastric Carcinoma (LELGC): A Case Report and Review of Literature

Lymphoepithelioma-like gastric carcinoma (LELGC),  is a rare type of gastric cancer characterized by a carcinoma with intense stromal lymphocytic infiltration. It is one of the histological patterns observed in patients with Epstein-Barr virus (EBV)-associated gastric carcinoma. According to the World Health Organisation classification of tumors of digestive sysytem 2010, LELGC is a rare type of tubular carcinoma. Although this entity is hard to be recognized in the biopsy specimens, pathologists and clinicians should acknowledge this subset of gastric cancer because it generally has a better prognosis than other forms of EBV-associated gastric carcinomas and conventional gastric carcinomas. This might be due to the fact that the patient's inflammatory response may prevent the spread of tumor through the gastric wall and to the lymph nodes or remote organs.(21) In order to gain a detailed understanding of this rare disease, we reviewed the literature and report here a recent case of epithelioid gastric cancer in a 60 year old male patient presented in our Emergency Department. Keywords: Lymphoepithelioma-like Gastric Carcinoma, gastric cancer , Ebstein-Barr virus, prognosi

Cardiac hemangioma presenting as a primary cardiac tumor

Abstract Cardiac hemangiomas are very rare benign cardiac tumors. They can present at any age and clinical presentation varies according to location and size. We encountered an 87-year-old woman with a left atrial hemangioma clinically diagnosed as cardiac myxoma. Histopathological examination revealed that it was a cavernous-type hemangioma Left atrial hemangiomas, especially those attached to the left atrium wall, may be mistakenly diagnosed as myxomas. Furthermore, a comprehensive review of atrial hemangioma was conducted for the diagnosis and treatment of this uncommon entity

Sebaceous carcinoma in situ as a diagnostic entity. Case report and review of the literature.

The concept of carcinoma in situ was first introduced by Broders in 1932 [1] and has been accepted as a well-established notion and diagnostic category in many organs and systems. However, sebaceous carcinoma in situ (SCIS) has not yet been recognized as a concept and diagnostic entity in general pathology or dermatopathology. Such lesions have been commonly misinterpreted as either a benign neoplasm or sebaceous carcinoma. Tumors that do not necessarily arise in pre-existing sebaceous glands are usually invasive at the time of diagnosis, and like their ocular counterparts, can exhibit pagetoid intraepidermal spread. Cases of purely in- situ extraocular sebaceous carcinoma are extremely rare and yet controversial until now. Recognizing sebaceous carcinoma in situ as a valid concept and diagnostic entity that will certainly help to avoid misinterpretation and subsequently under or over treatment of such lesions. In this article, we provide a case report presentation with histopathological examination and a critical review of the literature

Mixed germ cell tumor of the pineal gland in a pediatric patient

Tumors of the pineal region are a rare clinical entity, comprising approximately 3%-8% of pediatric tumors. Based on their histopathological features, they are typically classified as pineal parenchymal tumors and germ cell tumors, with the latter being more prevalent. Clinical presentation is heterogeneous, with symptoms arising either due to tumor invasion or compression of adjacent neurovascular structures and increased intracranial pressure. Imaging studies are paramount in evaluating pineal region lesions and establishing an accurate diagnosis, with MRI representing the gold standard. Herein, we present the case of a 16-year-old boy presented with recurrent headaches. A head MRI revealed a pineal gland lesion. Histopathological examination confirmed the diagnosis, and the patient underwent a successful gross total resection (GTR) of the tumor. This case report seeks to draw attention to the elusive clinical presentation and management of this infrequently encountered tumor, as well as emphasize the importance of considering pineal gland tumors in the differential diagnosis of recurrent, chronic headaches in pediatric patients

Septo-optic dysplasia in an infant

Septo-optic dysplasia (SOD) is a rare congenital disorder occurring in only 1 in 10,000 live births. Initially it was described in 1941 by Reeves and further discussed by the French-Swiss neurologist de Morsier (1956) as the disease further addressed his name. SOD is a combination of triads of hypoplasia of the optic nerve, agenesis of midline brain structures, and hypoplasia of the hypothalamic-pituitary axis. The pathophysiology of this rare congenital anomaly is yet to be understood, with some hypotheses in order to establish the diagnosis. The management modality depends on the presentation of the disease and requires a multidisciplinary approach. While most SOD patients present with visual, neurological, or endocrine abnormalities, in our case the patient was diagnosed incidentally while following up after an episode of acute respiratory distress syndrome and sepsis. We aim to highlight the aspects of clinical presentation in a patient with SOD and the importance of a multimodality follow-up approach

Gorham-Stout disease, a diagnosis of exclusion

Gorham-Stout disease (GSD) also known as vanishing bone disease is an idiopathic and rare condition characterized by gross and progressive bone loss along with excessive growth of vascular and lymphatic tissue. Very little is known about the pathogenesis of GSD, which makes the diagnosis challenging and often diagnosed by elimination. We report a case of GSD in a 41-year-old male patient. He presented with bone pain and initial imaging showed widespread osteolytic lesions in the cervical and mid thoracic spine, ribs, sternum, clavicles, scapula, and humerus. Two percutaneous bone biopsies were performed, followed by an open spine biopsy of the lumber 2 spinous process for histological examination. Unfortunately, no diagnosis was reached. Although, he was treated symptomatically, he kept enduring pain and presented again after 7 months. His laboratory values were out of the normal range which prompted thorough investigations. New imaging and bone biopsy revealed multiple osteolytic lesions and vascular lesion with cavernous morphology respectively. GSD was diagnosed after ruling out a neoplastic process and confirming the cavernous morphology with immunohistochemical stain. He was treated symptomatically with immunomodulators, bisphosphonates, and supplements. Patient was counseled to see the specialist regularly. This case will help to increase familiarity and shed insights in the diagnosis of GSD

The 6th Albanian Congress of Trauma and Emergency Surgery

After a three-year quarantine from the deadliest global pandemic of the last century, ASTES is organizing to gather all health professionals in Tirana, The 6th Albanian Congress of Trauma and Emergency Surgery(ACTES 2022) on 11-12 November 2022, with the topic Trauma & Emergency Surgery and not only...with the aim of providing high quality, the best standards, and the best results, for our patients ...ACTES 2022 is the largest event that ASTES (Albanian Society for Trauma and Emergency Surgery) has organized so far with 230 presentations, and 67 foreign lecturers with enviable geography, making it the largest national and wider scientific event.The scientific program is as strong as ever, thanks to the inclusiveness, where all the participants with a mix of foreign and local lecturers, select the best of the moment in medical science, innovation, and observation.The scientific committee has selected all the presentations so that the participants of each medical discipline will have something to learn, discuss, debate, and agree with updated methods, techniques, and protocols.I hope you will join us on Friday morning, and continue the journey of our two-day event together