Anila Babameto-Laku

Familial isolated pituitary adenoma (FIPA) accounts for approximately 2%–5% of all pituitary adenomas, with inactivating variants of the aryl hydrocarbon receptor‐interacting protein ( AIP ) gene representing the most frequent known genetic cause. Clinically, patients with AIP variants often have young‐onset macroadenomas with growth hormone hypersecretion, although disease severity and penetrance are variable. Most reported AIP variants are point mutations, whereas large deletions are rare and potentially underdiagnosed. Accurate detection of AIP copy‐number variants requires methods such as multiplex ligation‐dependent probe amplification or validated copy‐number analysis of next‐generation sequencing data, as Sanger sequencing alone may fail to identify these alterations. Due to the rarity of the disease, it is unknown whether large deletions in the ubiquitously expressed AIP gene are associated with potentially more severe phenotype. Available data suggest that large deletions may occur in 8%–10% of AIP mutation‐positive pedigrees, highlighting the importance of incorporating copy‐number variant detection into AIP testing workflows. We analysed data from all published patients with large AIP deletions ( n = 25) and report here two novel large AIP deletions (Exons 3–4 and Exons 2–6 deletions) and three additional three families, including an Albanian kindred associated with metastatic Hürthle cell thyroid carcinoma. No major differences compared with other AIP variants were found in age at diagnosis, tumour size, hormonal profile, sex distribution or presence of other tumours. A role for AIP variants in thyroid carcinogenesis is unlikely.

Background: Retinoblastoma (RB), the most common intraocular cancer worldwide, has been extensively investigated. To the best of our knowledge, however, no reports exist on RB in Albania. We aimed to present the first case series of RB in Albania, including presentation, treatment, and outcome of patients. Materials and Methods: This was a retrospective case series of patients diagnosed with RB from 1998 to 2023 at a single country Mother Teresa University Hospital Center in Albania. Epidemiologic and clinical data were extracted from follow-up clinical charts. Results: During the 25-year study period, 22 patients were diagnosed with RB, of whom 59% were females. The average age at diagnosis was 21.8 months (SD—18.8 months). In 13 (59%) cases, the disease was diagnosed within the first year of life, and less than 5% were diagnosed after the age of 5 years. Overall, 18% of patients had family history of RB, and 41% had bilateral RB. The time from the first symptom to diagnosis was less than a month in 32% of cases, while 77% of patients were diagnosed within 4 months. The main presenting symptom was leukocoria in 6 (27%) cases, strabismus in 3 (14%) cases, and combination of both in 3 (14%) cases. Treatment was mainly a combination of enucleation and systemic chemotherapy in 15 (71%) cases. Only 13 (59%) patients continued treatment within Albania, with the rest being treated abroad. Conclusion: We present the first cohort of children with RB from Albania, a country with limited diagnostic and treatment resources. The advanced disease states of these children underscore the importance of implementing national pediatric screening programs. Cite this article as: Duka E, Hashorva E, Kapllanaj M, et al. Retinoblastoma in Albania: A 25-year retrospective analysis. Turk Arch Pediatr. 2025;60(2):159-163.