
==== Front
Neurooncol Adv
Neurooncol Adv
noa
Neuro-Oncology Advances
2632-2498
Oxford University Press US

10.1093/noajnl/vdae090.061
vdae090.061
Final Category: Multimodality Approaches
AcademicSubjects/MED00300
AcademicSubjects/MED00310
MMOD-17 INTEGRATION OF MULTIMODAL ADVANCED MOLECULAR TESTING TO CLASSIFY METASTASES OF UNKNOWN PRIMARIES – A CASE OF A PATIENT WITH NO KNOWN MEDICAL HISTORY
Primdahl Ditte Northwestern University, Feinberg School of Medicine, Chicago/IL, USA

Smith Heather Northwestern University, Feinberg School of Medicine, Chicago/IL, USA

Jean Jeffrey Northwestern University, Feinberg School of Medicine, Chicago/IL, USA

Duckett Drew Northwestern University, Feinberg School of Medicine, Chicago/IL, USA

Vormittag-Nocito Erica Northwestern University, Feinberg School of Medicine, Chicago/IL, USA

Nezami Behtash G Northwestern University, Feinberg School of Medicine, Chicago/IL, USA

Jennings Lawrence J Northwestern University, Feinberg School of Medicine, Chicago/IL, USA

Santana-Santos Lucas Northwestern University, Feinberg School of Medicine, Chicago/IL, USA

Ahrendsen Jared Northwestern University, Feinberg School of Medicine, Chicago/IL, USA

Castellani Rudolph J Northwestern University, Feinberg School of Medicine, Chicago/IL, USA

Sukhanova Madina Northwestern University, Feinberg School of Medicine, Chicago/IL, USA

Jamshidi Pouya Northwestern University, Feinberg School of Medicine, Chicago/IL, USA

8 2024
02 8 2024
02 8 2024
6 Suppl 1 2024 SNO/ASCO CNS Metastases Conference i19i19
© The Author(s) 2024. Published by Oxford University Press, the Society for Neuro-Oncology and the European Association of Neuro-Oncology.
2024
https://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com

Abstract

Metastases are the most common diagnosed brain tumors in adults. In up to 15% of brain metastases, the source of primary malignancy remains unknown despite a thorough workup. Here, we present a case of a 25-year-old male who presented with intracranial hemorrhage and a mass in the left occipital lobe. At the time, his past medical history was unknown to all care providers. He underwent emergent craniotomy for resection of the tumor. Multimodal advanced molecular diagnostic testing, including next-generation sequencing (NGS), chromosomal copy number analysis, and DNA methylation profiling using Northwestern Memorial Hospital’s Cancer of Unknown Primary (CUP) classifier were performed to classify the neoplasm and identify the primary source for his metastatic tumor. Histopathologic sections showed brain parenchyma with acute hemorrhage intermixed with small fragments of a primitive neoplasm. The immuno-profile of the tumor was suggestive of germ cell differentiation. The tumor harbored multiple molecular and cytogenetic alterations including amplification of CCND2 and 12p, gain of chromosomes X,1q, 7 and 8 and loss of chromosomes Y, 1p, 16 and 22. DNA methylation profiling did not match (i.e. score >0.9) with any tumor entity on the CUP classifier, however the tumor clustered closest to non-seminomatous testicular germ cell tumors on the t-distributed stochastic neighbor embedding (t-SNE) plot. This case highlights the value of utilizing multimodality advanced molecular testing when facing a diagnostically challenging case. While none of the molecular tests performed was independently diagnostically conclusive, in concert, they pointed to a definitive diagnosis. Upon diagnosis, imaging revealed a surgically absent left testicle and multiple lung metastases. Patient confirmed diagnosis of a testicular cancer few years prior to his current presentation. He is undergoing
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pmc
