Cutaneous Melanoma and Glioblastoma Multiforme Association-Case Presentation and Literature Review

Abstract

The occurrence of both melanoma and glioma was first suggested by the observation of a familial association between these conditions, which was later confirmed by the description of the melanoma-astrocytoma syndrome, an extremely rare, inherited affliction in which people have an increased risk of developing melanoma and nervous system tumors. Taking into consideration the common embryologic precursor, the neuroectoderm, it was hypothesized that this syndrome is associated with a genetic disorder. While some families with germline CDKN2A mutations are prone to develop just melanomas, others develop both melanomas and astrocytomas or even other nervous-system neoplasms. Herein, we report the case of a 63-year-old male patient with no personal or family history of malignancy who had primary melanoma followed by glioblastoma. Our case report suggests that the occurrence of both melanoma and glioblastoma is most likely not coincidental but instead linked to genetic mutations of common embryologic precursors or signaling pathways.

Keywords: CDKN2A; astrocytomas; cancers; glioblastoma; melanoma; melanoma–astrocytoma syndrome; nervous system tumors.

Figure 1

Clinical aspect: asymmetric, dark brown-black nodular tumor, located on the right posterior hemi-thorax.

Figure 2

Dermoscopy findings: vascular polymorphism on an unevenly colored background (red, black, dark brown) with asymmetric borders, discretely covered by a bluish veil.

Figure 3

Clinical and dermoscopical images of two more dysplastic nevi on the anterior thorax.

Figure 4

HE-stained (10×) histopathological section of Clark IV malignant melanoma. Scale bar: 1000 μm.

Figure 5

Microphotographs of malignant melanoma sections in our case. (a) Immunohistochemical stain (10×) positive for S100; (b) Immunohistochemical stain (10×) positive for Ki-67; (c) Immunohistochemical stain (10×) positive for Melan-A. Scale bars (a–c) images: 1000 μm.

Figure 5

Microphotographs of malignant melanoma sections in our case. (a) Immunohistochemical stain (10×) positive for S100; (b) Immunohistochemical stain (10×) positive for Ki-67; (c) Immunohistochemical stain (10×) positive for Melan-A. Scale bars (a–c) images: 1000 μm.

Figure 6

HE staining (20×) of sentinel lymph node biopsy which describes no metastatic involvement of the axillary nodes. Scale bar: 1000 μm.

Figure 7

Negative BRAF gene mutation result. The genotyping was performed using the BRAF 600/601 StripAssay kit, which detects the mutations: V600E, V600A, V600D, V600E (c. 799T > A, c. 1799_1800TG > AA), V600G, V600K, V600M, V600R, K601E in the BRAF gene. The detection limit of the method is 1%.

Figure 8

(a) Axial MRI image of a large heterogeneous mass in the left frontal lobe. (b) Lateral MRI image of a large heterogeneous mass in the left frontal lobe.

Figure 9

HE-stained (10×) histopathological section of glioblastoma multiforme. Scale bar: 1000 μm.