Rare AIP exon 2-3 large deletion linking acromegaly and thyroid carcinoma: first case series from Albania

Tea Shehu; Maren Ruka; Artur Xhumari; Anila Babameto-Laku; Athanasios Siolos; Stelios Tigas; Kesson Magid; Marta Korbonits

doi:10.1530/endoabs.117.P194

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Endocrine Abstracts (2026) 117 P194 | DOI: 10.1530/endoabs.117.P194

SFEBES2026 Poster Presentations Neuroendocrinology and Pituitary (40 abstracts)

Rare AIP exon 2–3 large deletion linking acromegaly and thyroid carcinoma: first case series from Albania

Tea Shehu ^1,2 , Maren Ruka ³ , Artur Xhumari ³ , Anila Babameto-Laku ⁴ , Athanasios Siolos ⁵ , Stelios Tigas ⁵ , Kesson Magid ⁶ & Márta Korbonits ⁶

Author affiliations

¹Endocrinology, American Hospital 3, Tirana, Albania; ²Department of clinical and molecular medicine, Sapienza University, Rome, Italy; ³Neurosurgery, Faculty of Medicine, University of Medicine, Tirana, Albania; ⁴Genetics, Faculty of Medicine, University of Medicine, Tirana, Albania; ⁵Department of Endocrinology, Ioannina University Hospital, Ioannina, Greece; ⁶Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, United Kingdom

Background: Germline AIP mutations are a rare cause of familial isolated pituitary adenomas (FIPA), and large deletions present in only ten known kindreds worldwide. We describe the first Albanian family harboring a pathogenic AIP exon 2–3 deletion, presenting with growth hormone (GH)–secreting adenomas and an associated thyroid carcinoma.

Methods: Two affected siblings underwent detailed clinical, biochemical, radiological, and histopathological assessment. Germline AIP analysis was performed using methods able to detect copy number variants. In the patient with metastatic thyroid carcinoma, tumor DNA was analyzed by next-generation sequencing (NGS) for additional somatic variants.

Results: The index case, a woman diagnosed with acromegaly at 39 years after 20 years of symptoms, had a 16×11 mm somatolactotroph adenoma and achieved long-term remission post-surgery. Her brother, diagnosed at 42 years, had a 23×15×10 mm macroadenoma invading the cavernous sinus, partially responsive to octreotide LAR. He also developed Hürthle-cell thyroid carcinoma, later radioiodine-refractory with lung metastases. NGS of the thyroid tumor revealed somatic variants in MSH6, TP53, SMARCA4, and HLA-B deletion. Germline testing confirmed a heterozygous AIP exon 2–3 deletion in both siblings.

Conclusions: This kindred represents the first genetically confirmed AIP large deletion family in Albania. The phenotype did not differ substantially from other AIP mutation carriers. These findings highlight the importance of performing tests for large deletions in AIP gene assessment and allow cascade family screening to enable detection of variant carriers and clinical screening.

Keywords: AIP large deletion, familial acromegaly, thyroid carcinoma, Albania, FIPA