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Case Reports
. 2021 Jun 11;14(2):826-831.
doi: 10.1159/000515331. eCollection 2021 May-Aug.

Can Discord Domain-Containing Receptor 2 Mutation Act as a Disease Modifier for PRKAR1A Associated Melanotic Schwannoma?

Erica M Roman Hernandez  1 , Sri Laxmi Valasareddi  2 , Jarrod Adkison  3 , Henna Awan  4 , Krishnamohan R Basarakodu  2 , Arash Velayati  1
Affiliations
Case Reports

Can Discord Domain-Containing Receptor 2 Mutation Act as a Disease Modifier for PRKAR1A Associated Melanotic Schwannoma?

Erica M Roman Hernandez et al. Case Rep Oncol. .

Abstract

Melanotic Schwannomas are rare neural sheath tumors with distinctive findings of both Schwann cells and melanocytic cells. Recognition of this entity has prompted the importance of distinction from similar tumor types such as melanomas. Early diagnosis facilitates removal of the mass with less risk of local invasion and metastasis. Although previously known as mostly benign lesions, malignant conversion and recurrence are recognized. This paper presents a patient with melanotic schwannoma, describes the distinctive features that will separate it from melanoma, and addresses the possibility of further guided therapy through next-generation sequencing.

Keywords: Discord domain-containing receptor 2; Melanotic schwannoma; PRKAR1A.

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Conflict of interest statement

The authors have no conflicts of interest to declare.

Figures

Fig. 1
Fig. 1
Biopsy of metastatic lung nodule: melanin-producing cells with nuclear atypia consistent with melanotic schwannoma (HE staining). a Air-dried cytology preparation diff quick stain slide smear of hyperchromatic Schwann cells with heavy melanin pigmentation. b HE slide section of needle core biopsy with hyperchromatic Schwann cells with heavy melanin pigmentation.
Fig. 2
Fig. 2
CT scan showing metastatic recurrence of melanotic schwannoma in the lung (a) and precardiac lymphadenopathy (b).
See this image and copyright information in PMC

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