Fisnik Kurshumliu

Background and Clinical Significance: The co-occurrence of Hashimoto thyroiditis (HT), Graves’ disease (GD), and papillary thyroid carcinoma (PTC) is an extremely rare event and offers a unique opportunity to examine how chronic autoimmune thyroid disease may interact with the process of thyroid cancer development. Case Presentation: We present the case of a 42-year-old female with long-standing autoimmune thyroid disorders who developed progressive Graves’-related orbitopathy that did not improve with corticosteroid therapy. Owing to persistent hyperthyroidism and worsening orbital symptoms, she underwent total thyroidectomy. A histopathological examination of the removed thyroid gland surprisingly found PTC developing within a background of chronic autoimmune inflammation. The patient’s postoperative course included stable thyroid hormone replacement, a significant decrease in serum levels of thyroid autoantibodies, and clinical improvement in her orbital symptoms following decompressive surgery, although partial visual impairment persisted. Conclusions: This case highlights how chronic thyroid autoimmunity may create a carcinogenic environment and emphasizes the importance of comprehensive histopathological assessment and multidisciplinary care for patients with complex autoimmune thyroid disease.

Acute myeloid leukemia (AML) is a genetically diverse clonal illness marked by the accumulation of somatically acquired genetic abnormalities in hematopoietic progenitors, leading to poor differentiation and unchecked proliferation. Over the last twenty years, the amalgamation of traditional cytogenetics, molecular genetics, and, more recently, next-generation sequencing (NGS) has transformed diagnostic procedures, enhanced risk stratification models, and revealed new therapeutic targets that are altering the treatment landscape. Molecular genetic analysis of CEBPA, NPM1, and FLT3 is currently standard of care in AML patients, and mutations in several other genes are becoming more important, including NPM1, TET2, KIT, DNMT3A, IDH1/2, RUNX1, AXSL1, WT1, and RAS. In this article, the authors review the most relevant literature concerning AML genetics and discuss, based on their own experience and expertise, the perspectives on precision medicine in AML, and addresses practical issues faced in low-resource nations like Albania and Kosovo.

The dorsal motor nucleus of the vagus (DMV) is a key brainstem structure involved in autonomic integration and vagal regulation of thoracic organs. This study examined whether localized GABA microinjection into the DMV modulates cholinergically induced airway mechanical responses in anesthetized male ferrets. Bilateral stereotaxic microinjections of GABA (10 µmol; 25–50 nL) were performed in the DMV (AP −12.6 mm, ML 0 mm, DV −7.6 mm). Airway mechanics were evaluated by measuring tracheal segment pressure (Ptseg), lung resistance (RL), and dynamic compliance (Cdyn) at baseline, following intravenous physostigmine (100 µg/kg), and after GABA administration. Physostigmine significantly increased Ptseg and RL (p < 0.01), indicating cholinergically mediated airway constriction. GABA microinjection attenuated these effects and significantly reduced Cdyn (p < 0.05). Under controlled mechanical ventilation, these findings support a central inhibitory influence of DMV GABAergic signaling on vagally mediated airway responses during cholinergic activation. This study provides mechanistic proof-of-concept evidence for central modulation of airway mechanics and highlights the role of brainstem inhibitory circuits in autonomic respiratory regulation.

Giant functional parathyroid cysts (PCs) are extremely rare and can present significant diagnostic challenges. We report a case of a 31‐year‐old woman with primary hyperparathyroidism (PHPT) due to a giant PC, which presented with biochemical features of hyperparathyroidism, compressive symptoms in the neck structures, and a unique ultrasonographic “snowstorm” pattern, mimicking thyroid pathology. Diagnosis was confirmed postoperatively by histopathology. This case highlights the importance of including PCs in the differential diagnosis of cystic neck masses, particularly when biochemical and imaging findings are discordant.

Key Clinical Message: Fertility‐sparing surgery and appropriate adjuvant chemotherapy for advanced malignant ovarian germ cell tumors have excellent survival results and promising reproductive and obstetric outcomes. This case report aims to demonstrate the potential feasibility and success of fertility‐sparing surgery (FSS) coupled with adjuvant chemotherapy in treating advanced malignant ovarian germ cell tumor (MOGCT), focusing on pure dysgerminoma, fertility, and achieving spontaneous pregnancy. The patient was a 23‐year‐old female who initially presented with complaints of abdominal distension and a palpable mass and was subsequently diagnosed with advanced MOGCT. The patient provided a complete clinical and radiological response to FSS with complete surgical staging and cisplatin‐based chemotherapy (bleomycin, etoposide, and cisplatin). Despite being diagnosed with advanced MOGCT and treated with FSS and adjuvant chemotherapy, she later experienced spontaneous pregnancy, giving birth to a healthy child. This case study demonstrated the potential for successful fertility preservation and pregnancy in advanced‐stage MOGCT patients treated with personalized treatment approaches. Nevertheless, a broader investigation is needed to understand the relevant complex dynamics and to ascertain whether FSS with adjuvant chemotherapy could be a reliable approach in treating advanced MOGCT.

Background: Primitive neuroectodermal tumors are extremely rare and highly aggressive malignant small round cell tumors that arise from the primitive nerve cells of the nervous system or outside it. These tumors share similar histology, immunohistologic characteristics, and cytogenetics with Ewing’s sarcoma. Peripheral primitive neuroectodermal tumors of the chest wall are rare malignant tumors seen in children and young adults.Case presentation: We report a rare case of peripheral primitive neuroectodermal tumor in a 4-year-old Albanian girl with a mediastinal tumor and an unusual clinical presentation. She was initially treated for acute polyradiculoneuritis (Guillain–Barré syndrome) owing to pain, weakness in the lower limbs, and walking difficulty, as well as severe irritability. During the second week of treatment, the child began to experience dry cough, chest discomfort, and worsening dyspnea. Chest radiography, chest computed tomography, and contrast-enhanced computed tomography demonstrated a large mass in the right hemithorax that was derived from the posterior mediastinum with expansive growth in all directions and that shifted the mediastinal structures in the anterolateral left direction. Consequently, histopathology and immunohistochemical examination of the markers S-100, CD99, and Ki-67 showed that the tumor cells stained positively for S-100 and CD99. The proliferative index measured by Ki-67 was approximately 20%, which suggested primitive neuroectodermal tumor.Conclusions: Even though other diseases, including leukemia, lymphoma, and neuroblastoma, may be accompanied by musculoskeletal manifestations in children, other solid tumors, such as peripheral primitive neuroectodermal tumors, should be considered in the differential diagnosis in any child presenting with musculoskeletal symptoms.

Human papilloma virus (HPV) infection is the main etiological factor for cervical intraepithelial lesions (CIN). An important characteristic of this process is the loss of genome stability. Therefore, it is imperative to use biomarkers of DNA damage caused by genomic instability to identify high risk individuals. We investigated the frequency of micronuclei (MN) in peripheral blood lymphocytes (PBL) of 20 patients, diagnosed as histologically CIN 1 and 10 healthy controls. We also examined the frequency of other nuclear anomalies including nucleoplasmic bridges (NPBs) and nuclear buds (NBUDs) in PBL of patients with CIN 1 and healthy controls, and evaluated the benefits of p16^INK4a and Ki-67 (p16^INK4a/Ki-67) immunohistochemical double staining for identifying cervical squamous cells that express HPV E6/E7 oncogenes. We analyzed the association between the frequency of MN in PBL and the amount of p16^INK4a/Ki-67 co-expression in CIN 1 patients to establish genomic instability. Among CIN 1 subjects, 15% exhibited diffuse p16^INK4a/Ki-67 co-expression and were considered high positive, 25% of the CIN 1 cases exhibited p16^INK4a/Ki-67 co-expression restricted to the lower part of the epithelium and were considered low positive and the remaining 60% of cases were negative. The frequency of MN, NPBs and NBUDs differed significantly among groups. We found a statistically significant positive correlation between p16^INK4a/Ki-67 co-expression and the frequency of MN, NPBs and NBUDs in PBL. Our findings demonstrate the efficacy of p16^INK4a/Ki-67 double immunostaining for histological samples with CIN 1. MN frequency in PBL might be useful for detecting genomic instability in cases of HPV infection and CIN.

The patient, a 40-year-old male, was referred to our clinic with intermittent nausea, vomiting and symptomatic anemia for 4 months. Notable hematological indices were low hemoglobin levels of 9.6 g/dl and hematocrit levels of 35.8%, while after receiving two units of concentrated red blood cells, at discharge; they achieved levels of 15.2 g/dl and 42.3%, respectively. Esophagogastroduodenoscopy revealed a 3 cm antral pedunculated polyp, prolapsing into pylorus thus causing intermittent pyloric obstruction and anemia. Histological examination revealed a hyperplastic polyp without evidences of malignancy. No atrophy, metaplasia, dysplastic changes or Helicobacter pylori infection were detected in samples taken from the antrum and the corpus; however, the examination provided evidence for gastritis. Follow-up endoscopy was provided after 12 weeks to see polypectomy site after a course of Pantoprazole administration, and to define symptom-free time after polypectomy. Endoscopic removal of complicated gastric polyps should be considered at the time of initial diagnostic endoscopy. Endoscopic resection of polyps enables to determine the exact histopathologic type as well as to effectively treat symptomatic gastric outlet obstruction and anemia.

Angiogenesis is essential for the development, growth and progression of tumors. Although vascular endothelial growth factor (VEGF) is a well-known proangiogenic factor, its impact on lymphoma has not yet been fully clarified. The aim of...

Tumors of salivary glands are very rare in children overall, and rarely in minor salivary glands. Among them pleoomorphic adenoma (PA) is the most common benign tumor of salivary glands in children and it acounts 60% of all salivary neoplasms, frequently found in major salivary glands (85 %) and rarely in minor salivary glands (10-15%). PA appears as painless oval mass, elastic consistency and smooth surface. It characterized by slow evolution of growing. The diagnosis can be confirmed only by histopathological features, after total excision of the lesion. This case report present the uncommon case of the formation well circumscribed in upper lip region, nearby the frenulum labii oris superior in 10 years old school girl. After clinical intraoral examination of the formation approximately 2cm in size the surgical treatment has been done and histopathologic analysis resulted as PA. Long term follow-up examination is necessary due to possible recurence or malignancy alteration.