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Case Reports
. 2022 Oct 12:12:988798.
doi: 10.3389/fonc.2022.988798. eCollection 2022.

Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review

Yufan Chen  1 , Haibo Zhang  1 , Yang Zhao  1 , Jie Ma  1
Affiliations
Case Reports

Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review

Yufan Chen et al. Front Oncol. .

Abstract

Background: Congenital medulloblastoma is very rare, and many cases involve germline mutations that can lead to inherited syndromes. Here, we first report two brothers with congenital medulloblastoma who were diagnosed with Gorlin-Goltz syndrome caused by SUFU mutation.

Clinical presentation: Medulloblastoma was detected in two brothers at 2 and 3 months of age, with very similar imaging features. Genetic testing revealed that both children and their mother carried SUFU gene germline mutations, and both brothers were diagnosed with Gorlin-Goltz syndrome.

Conclusion: Gorlin-Goltz syndrome-associated congenital medulloblastoma with SUFU germline mutation is very rare. Pathological types mostly involve desmoplastic/nodular or extensive nodularity; chemotherapy is the main treatment, and studies revealing prognostic data are scarce.

Keywords: Gorlin-Goltz syndrome; congenital medulloblastoma; infantile; stem cell transplantation; sufu.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
CT and MRI findings for Patient one. A large abnormal signal mass (5.4 cm x 5.7 cm x 7.0 cm) was detected above the cerebellum in the posterior fossa, with poorly defined borders. CT showed a slightly high-density mass shadow. T1WI revealed isointense or low signal, T2-FLAR isointense or slightly high signal, and DWI high signal. Enhanced scanning showed high heterogeneity (multiple nodules). There was no obvious abnormality regarding the spinal cord or morphological signals; the surface of the spinal cord was line-like, with small, strong nodular signals by enhanced scanning. (A): Preoperative, noncontrast CT. (B): DWI. (C) and (D): Gd-enhanced T1W images. (E): Gd-enhanced MRI of the spinal cord.
Figure 2
Figure 2
Gene copy number variation (CNV) in Patient one. Copy number was evaluated as the normal copy number: 2, increased 2> and decreasing copy number <2. BRCA1 (3.3,Gain), SMARCA4 (3.0, Gain), SMARCB1 (1.1,Loss), STK11 (3.0,Gain), TP53 (3.3,Gain), and ERBB2 (3.3,Gain).
See this image and copyright information in PMC

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