Abstract
Introduction: Primary malignant thyroid teratoma (PMTT) is an exceedingly rare and aggressive germ cell tumour, primarily affecting adults. Its association with xeroderma pigmentosum (XP), a genetic disorder characterised by defective DNA repair, has never been documented. We report the first clinical observation of this lethal association and discuss the therapeutic dilemma it poses.
Case Report: A 17-year-old girl, known to have XP, presented with a rapidly enlarging, suspicious thyroid nodule. While initial cytological and radiological findings were misleadingly suggestive of benignity, the clinical progression was highly aggressive. The patient underwent total thyroidectomy with left mediastino-recurrent lymph node dissection. Final histopathology confirmed a PMTT with a primitive neuroectodermal component and regional lymph node metastasis. Cisplatin-based chemotherapy was initiated, but the clinical course was rapidly complicated by severe multi-organ toxicity. This systemic failure, directly linked to the DNA repair defect of the XP phenotype, led to a fatal outcome.
Conclusion: This unique case underscores the extreme diagnostic challenges of PMTT and the profound therapeutic impasse encountered in XP patients. The inherent hypersensitivity to DNA-damaging agents in XP individuals renders standard aggressive oncological protocols nearly impossible to implement, and calls for a critical reflection on personalised, low-toxicity treatment alternatives for this vulnerable population.
Keywords: Teratoma; Thyroid Neoplasms; Xeroderma Pigmentosum; Cisplatin; Drug-Related Side Effects and Adverse Reactions.
