Intracranial Germinoma—Association between Delayed Diagnosis, Altered Clinical Manifestations, and Prognosis

Abstract

Background: Intracranial germinoma is a rare malignant neoplasm of the central nervous system (CNS) that occurs in children and young adults. The aim of our study was to assess the initial manifestation of the disease, and to find differences in outcomes dependent on time of diagnosis. Methods: The study group consisted of 35 consecutive patients (adults and children) who were treated for intracranial germinoma with radiotherapy at a tertiary centre, and their data were retrospectively collected. We evaluated time from the first symptoms to diagnosis and divided patients into early and delayed diagnosis groups. Delayed diagnosis has been defined as the time from initial presentation to final diagnosis longer than six months. Results: A total of 17 (48.6%) of the patients had delayed diagnoses. Patient survival data spanned a median of six (interquartile range 3–12) years. At the time of the diagnosis, patients presented exclusively neurological symptoms in 16 (45.7%) cases, exclusively endocrinological symptoms in five (14.3%) cases, and mixed symptoms in the remaining cases (n = 14; 40.0%). Patients with neurological symptoms had shorter time (p < 0.001) from first symptoms to the final diagnosis (5.91 months) than in patients without them (19.44 months). The delayed diagnosis group presented significantly smaller tumour size (mean maximal dimension 2.35 cm) compared to early diagnosis group (3.1 cm). The 5-year and 10-year survival rates of our patients were 94.3% and 83.4%, respectively. Patients with a delayed diagnosis (n = 17) had a significantly worse (p = 0.02) 10-year OS (63%) compared to the early diagnosis group (n = 18; OS = 100%). Importantly, in five patients (14.29%), initial manifestation occurred before radiological signs of the disease. Conclusion: Our study stresses the need for timely diagnosis in intracranial germinoma, as a delay has a significant impact on the prognosis. In particular, if the tumour is small or causes exclusively endocrinological symptoms, the diagnosis may be difficult and delayed.

Effect of delayed diagnosis on neuroendocrine function in individuals with suprasellar germ cell tumors

“…( 15 ) reported a higher incidence of central diabetes insipidus in 86 cases of iGCTs in patients with delayed diagnosis, whereas Jabłońska et al. ( 11 ), including 35 individuals with iGCTs, did not observe this phenomenon. Moreover, the inclusion of both suprasellar and non-suprasellar GCTs in both studies introduces a significant confounding factor, given that suprasellar GCTs are inherently associated with delayed diagnosis and neuroendocrine dysfunction ( 16 , 21 ).…”

“…“Bifocal” cases (involving both pineal and suprasellar regions simultaneously) exhibit a combination of symptoms from both regions. Additionally, a minority of patients can experience neurological symptoms, such as motor impairment, disturbance of consciousness, and epilepsy ( 10 , 11 ). The treatment strategies for iGCTs include radiotherapy, chemotherapy, and surgery ( 12 ).…”

Clinical characteristics and predictive factors of delayed diagnosis in patients with sellar germ cell tumors

“…Previous studies on iGCTs had de ned delayed diagnosis as a duration exceeding 6 months from the initial symptoms to the formal diagnosis [13,17,19]. For this reason, all patients in this study were categorized into two groups: the delayed diagnosis group (> 6 months) and the non-delayed diagnosis group (≤ 6 months), according to the time from the rst symptom to the de nite diagnosis.…”

“…Categorically, 258 cases (74.8%) were classi ed as germinomas, and 87 cases (25.2%) as NGGCTs. At diagnosis, the median maximum tumor size was 20 (12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31) mm. The median time from rst symptoms to diagnosis was 12 (4-24) months.…”

“…Visual acuity and visual eld disturbances can also occur in these patients when the tumor grows towards the suprasellar region and compresses the optic chiasm. In addition, a minority of individuals with iGCTs occasionally experience neurological symptoms, like motor impairment, cognitive impairment, drowsiness, and even coma [8,13]. Due to their high sensitivity to chemoradiotherapy, germinomas exhibit a 5-year survival rate exceeding 95% [9].…”