PMC8766339_01
Brain MRI scan at diagnosis in 2016. Extra-axial bulky solid mass with a hypercellular solid component in the right paravermian location depicted by the arrow in (A) (axial T1WI), (B) (GRE), and C (T2WI). Note the hypointense components in T2WI (C) and blooming effect in GRE (B) highly suspicious for melanic or pigmented components. Also, note the coexistent intraparenchymal hematoma [* in (A-D)]. Mass was firmly attached to dural surface compressing right transverse dural sinus (doble arrowhead in D, postcontrast T1WI). In the post-operative scan [(E), T1 WI postcontrast], no macroscopic evidence of residual disease in the surgical cavity was noted [white star in (E)].
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Additionally, cerebellar tonsil herniation through the foramen magnum was noted ( Figure 1 ).
Basal pathology of meningeal hyperpigmented lesion from the posterior fossa compatible with a primary melanoma of the meninges. Green arrows in H/E image show large nucleoli in cells with a high nucleus-cytoplasm ratio.
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The tumor cells expressed S100, HMB45, and Melan A ( Figure 2 ).
Summary of genomic profiles of four different samples from the case. Samples correspond to the meningeal melanoma at diagnosis and its three further recurrences with their chromosomal alterations. The recurrence of CNAs across the samples in segmented data (y-axis) is plotted for each probe (4) evenly aligned along the x-axis in chromosomal order. The percentage of samples harboring gains, amplifications, losses, and deletions for each locus is depicted according to the following scheme: dark red (gains with a log2 ratio > = 0.15) and green (loss with a log2 ratio < = -0.15) and are plotted along with bright red (amplifications with a log2 ratio >= 0.4) and bright green (deletions with log2 ratio <=-0.4).
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  Figure 3  shows the comparative genomic hybridization array (aCGH) analysis of the four samples obtained from surgical resections, including monosomy of chromosome 3 and X, a total gain of chromosome 20, a high-level gain of chromosome 8q, and segmental losses on chromosomes 1p and 6q.
Imaging follow-up 23 months after diagnosis. Brain MRI scan showed a solid nodule below the torcular Herophili at the midline [arrow in (A), T2WI, and (B), postcontrast T1WI]. Note the low signal in the nodule in A (T2WI) and the avid contrast enhancement in B (postcontrast T1WI) in a similar pattern as in the pre-operative scan. In the medial margin of the surgical cavity [* in (C)] contrast enhancement may be noted matching the hypermetabolic focus seen on PET-CT [* in (D)] consistent with local recurrence.
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Follow-up imaging showed vasogenic edema involving the right cerebellar hemisphere and the vermis, with a small marginal nodule visible on MRI and PET/CT (SUVmax 3.2) ( Figure 4 ).
Brain MRI scan after secondary resection. A similar low signal nodule in the surgical cavity is depicted [arrow in (A), T2WI]. According to new onset of cephalalgia, the torcula's extrinsic compression was demonstrated [double arrowhead in (B), venous-phase angio-MRI]. In (C) (postcontrast T1WI), meningeal and surgical cavity enhancement is also noted (star).
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He developed meningeal progression with new nodules and meningeal thickening attached to the torcula causing partial compression of the right transverse sinus ( Figures 5A, B ). An irregular nodular enhancement focus was then found in the right paravermian cerebellar postsurgical cavity, related to local tumor relapse with perilesional vasogenic edema ( Figure 5C ).
Graphic evolution of the clinical case and of the tumor genomics evaluated by NGS in tumor tissue and CSF.
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At that time, he completed 58 months of survival.  Figure 6  describes the timeline from diagnosis to the present, including the different genomic findings.