Endocrine Abstracts

Introduction: High-grade astrocytoma with piloid features (HGAP) is arecently described brain tumor entity defined by a specific DNA methylation profile. HGAP has been integrated in the World Health Organization classification of central nervous system tumors 2021.Clinical presentationA 53-year -old woman was admitted to our department with chief complaints of headache with rapid deterioration in visual acuity over a period of 6 months. During the course of the disease, the patient experienced progressive worsening of symptoms of diabetes insipidus with a daily urine output of approximately 11000 mL. Physical examination revealed thyroid tenderness,decreased visual acuity, bi- temporal visual deficit, and signs of disorientation and memory loss. Laboratory examination revealed TSH (0.69 μIU/ml; reference level: 0.25-5 μIU/ml), decreased FT4 (9.26 pmol/l; reference: 9-20 pmol/l, FSH (2.82 ui/ml; reference level 1.55-9.74), LH (<0.1 ui/ml; reference level 7.7-58.5), Estradiol(<9 nmol/l; reference level 5-54.7), IGF1 (47.1 ng/ml; reference level 71-210). Pituitary function tests revealed markedly elevated serum prolactin level (249 ng/ml; reference: 7-20 ng/ml). There was no significant past history. The MRI brain showed a large ovoid shaped lesion (size: 3.2 cm x 3.3 cm x 4.1 cm) involving the intra-sellar and the suprasellar region. The margins of the lesion were not well-defined; the lesion was relatively homogenous with iso-intense T1 and hyperintense T2 signals. Following intravenous Gd-DTPA injection, the lesion showed significant heterogenous enhancement; the lesion had enveloped the internal carotid arteries on both sides and had infiltrated the bilateral cavernous sinuses, the floor of the third ventricle and the hypothalamus region. The sellar floor was mildly enlarged; the imaging of the pituitary gland was unclear. The initial differential diagnosis was between sellar chordoma, pituitary adenoma, lymphoma, glioma and metastatic lesion, a transphenoidal was selected for tumor removal, The histopathological exam showed high histopathological appearance and immunohistochemical profile consistent with a glial morphology process (ATRX lost, Olig 2+) of grade anaplasia, suspicion of a tumor associated with the CMMRE syndrome (constitinal mismatch repair defeciency). The patient was presented in pituitary CPR and a STUPP protocol was decided, The patient died six months after the surgery.

Conclusion: Until larger case series are published allowing better management of these tumors, patients still showed short intervals between diagnosis and tumor progression or death even after extensive multimodal therapy.