Article
Aggressive pituitary adenoma in the context of Lynch syndrome – a case report and literature review on this rare coincidence
Aggressive Hypophysenadenome im Kontext des Lynch-Syndroms – ein Fallbericht unter Berücksichtigung der Literaturlage zu diesem seltenen Phänomen
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Published: | June 4, 2021 |
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Objective: Lynch Syndrome is a cancer-predisposing condition resulting from hereditary mutation of one or more genes involved in DNA mismatch repair mechanisms. Especially gastrointestinal, urogenital, and endometrial carcinomas are well-known to predominantly occur in patients with this condition. In contrast, there are only few reports on brain tumours in the context of Lynch Syndrome and to date intracranial tumour manifestation appear to be rather coincidental despite the known predisposition of these patients for all kinds of malignomas.
Methods: We present the case of a 56-year-old female developing aggressive lactotroph pituitary adenoma following a history of multiple Lynch-associated malignomas and having a confirmed MSH2 mutation. Furthermore, we performed a literature review via PubMed using the search terms “Lynch Syndrome”, “HNPCC”, “MMR mutation” in combination with “intracranial tumour”, “sellar tumour”, “pituitary adenoma”, or “pituitary carcinoma”, focusing on other reported cases and treatment regimens.
Results: A handful of studies have indicated an increased frequency of associated brain tumours in the context of Lynch Syndrome, predominantly glioblastoma and less frequently astrocytoma, oligodendroglioma or other brain tumours. However, a Swedish study also presented 3 cases of pituitary adenomas in patients suffering Lynch Syndrome. Importantly, there is strong indication that common recommendations for treatment of aggressive pituitary adenoma or carcinoma might be insufficient in these patients, calling for adaption in consideration of the underlying MMR mutations.
Conclusion: Combined with our case, there is a growing body of evidence that intracranial tumours and in particular those of the sellar region might be more prevalent in Lynch Syndrome patients than previously assumed, with their genetic profile substantially affecting viability and efficacy of treatment options. Clinical signs of aggressive tumour growth in combination with irresponsiveness to standard treatment in case of recurrence should lead to further diagnostic measures, because revelation of germline MMR mutations would call for an extended screening for other neoplastic manifestations and would markedly influence further treatment.