PMC9149216_01
Clinicopathologic features of patient. Pre-operative T1-weighted (A) and T2- weighted (B) dynamic contrast enhanced MRI (C). Post-operative T1-weighted (D) and T2- weighted (E) dynamic contrast enhanced MRI (F). 5 months post-operative T1-weighted (G) and T2- weighted (H) dynamic contrast enhanced MRI (I). Hematoxylin and eosin (J).
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Brain magnetic resonance imaging (MRI) scans revealed a space-occupying lesion in the right lateral ventricle with hydrocephalus ( Figures 1A - C ). The patient underwent space-occupying resection of the lesions and external ventricular drain ( Figures 1D - F ). Microscopical analysis indicated that the tumor was a malignant tumor of germ cell origin without any nongerminomas germ cell tumors components ( Figure 1J ). Up to the article submission, there was no tumor recurrence ( Figures 1G - I ).
Molecular pathology data of patient. Next generation sequencing (NGS) revealing a germline SDHA c.1186dup variant (A), and a somatic KIT c.2467T>G variant (B). Copy number variation (CNV) in the whole genome (C). The unaffected father of the patient carried the heterozygous SDHA c.1186dup mutation (E), whereas the healthy mother did not (D).
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T396Nfs*14 (AF 48.35%) was detected but no second hits or loss of heterozygosity (LOH) in tumor tissue ( Figures 2A, B ). Copy number variations (CNV) including the gain of chromosome 7 and 21, and loss of chromosome 13 were identified ( Figure 2C ). Further analysis by Sanger sequencing identified that the SDHA heterozygous mutation originated from his father with a normal phenotype ( Figures 2D, E ).