Case Report: GNAQ- and SF3B1 Mutations in an Aggressive Case of Relapsing Uveal Ring Melanoma

Michelle Prasuhn; Josephine Christin Freitag; Sabine Lüken; Vinodh Kakkassery; Hartmut Merz; Almuth Caliebe; Malte Spielmann; Mahdy Ranjbar; Felix Rommel

doi:10.3389/fonc.2022.873252

Case Report: GNAQ- and SF3B1 Mutations in an Aggressive Case of Relapsing Uveal Ring Melanoma

Michelle Prasuhn^*, Josephine Christin Freitag, Sabine Lüken, Vinodh Kakkassery, Hartmut Merz, Almuth Caliebe, Malte Spielmann, Mahdy Ranjbar, Felix Rommel

^*Corresponding author for this work

University of Kiel

1 Citation (Scopus)

Abstract

The molecular mechanisms for uveal ring melanoma are still unclear until today. In this case report, we describe a patient with a malignant uveal melanoma with exudative retinal detachment that had been treated with plaque brachytherapy, resulting in successful tumor regression. After 1 year, a ring-shaped recurrence with extraocular extension appeared, and the eye required enucleation. Histological and molecular genetic analyses revealed an epithelioid-cell-type melanoma with complete circumferential involvement of the ciliary body and, so far, unreported GNAQ and SF3B1 mutations in ring melanoma. Therefore, this report gives new genetic background information on this ocular tumor usually leading to enucleation.

Original language	English
Article number	873252
Journal	Frontiers in Oncology
Volume	12
ISSN	2234-943X
DOIs	https://doi.org/10.3389/fonc.2022.873252
Publication status	Published - 25.05.2022

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This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being
SDG 9 Industry, Innovation, and Infrastructure
SDG 10 Reduced Inequalities

Research Areas and Centers

Research Area: Medical Genetics
Research Area: Luebeck Integrated Oncology Network (LION)
Centers: University Cancer Center Schleswig-Holstein (UCCSH)

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@article{531477e041cc497a81252fa4a0bd4601,

title = "Case Report: GNAQ- and SF3B1 Mutations in an Aggressive Case of Relapsing Uveal Ring Melanoma",

abstract = "The molecular mechanisms for uveal ring melanoma are still unclear until today. In this case report, we describe a patient with a malignant uveal melanoma with exudative retinal detachment that had been treated with plaque brachytherapy, resulting in successful tumor regression. After 1 year, a ring-shaped recurrence with extraocular extension appeared, and the eye required enucleation. Histological and molecular genetic analyses revealed an epithelioid-cell-type melanoma with complete circumferential involvement of the ciliary body and, so far, unreported GNAQ and SF3B1 mutations in ring melanoma. Therefore, this report gives new genetic background information on this ocular tumor usually leading to enucleation.",

author = "Michelle Prasuhn and Freitag, \{Josephine Christin\} and Sabine L{\"u}ken and Vinodh Kakkassery and Hartmut Merz and Almuth Caliebe and Malte Spielmann and Mahdy Ranjbar and Felix Rommel",

note = "Publisher Copyright: Copyright {\textcopyright} 2022 Prasuhn, Freitag, L{\"u}ken, Kakkassery, Merz, Caliebe, Spielmann, Ranjbar and Rommel.",

year = "2022",

month = may,

day = "25",

doi = "10.3389/fonc.2022.873252",

language = "English",

volume = "12",

journal = "Frontiers in Oncology",

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T1 - Case Report

T2 - GNAQ- and SF3B1 Mutations in an Aggressive Case of Relapsing Uveal Ring Melanoma

AU - Prasuhn, Michelle

AU - Freitag, Josephine Christin

AU - Lüken, Sabine

AU - Kakkassery, Vinodh

AU - Merz, Hartmut

AU - Caliebe, Almuth

AU - Spielmann, Malte

AU - Ranjbar, Mahdy

AU - Rommel, Felix

PY - 2022/5/25

Y1 - 2022/5/25

N2 - The molecular mechanisms for uveal ring melanoma are still unclear until today. In this case report, we describe a patient with a malignant uveal melanoma with exudative retinal detachment that had been treated with plaque brachytherapy, resulting in successful tumor regression. After 1 year, a ring-shaped recurrence with extraocular extension appeared, and the eye required enucleation. Histological and molecular genetic analyses revealed an epithelioid-cell-type melanoma with complete circumferential involvement of the ciliary body and, so far, unreported GNAQ and SF3B1 mutations in ring melanoma. Therefore, this report gives new genetic background information on this ocular tumor usually leading to enucleation.

AB - The molecular mechanisms for uveal ring melanoma are still unclear until today. In this case report, we describe a patient with a malignant uveal melanoma with exudative retinal detachment that had been treated with plaque brachytherapy, resulting in successful tumor regression. After 1 year, a ring-shaped recurrence with extraocular extension appeared, and the eye required enucleation. Histological and molecular genetic analyses revealed an epithelioid-cell-type melanoma with complete circumferential involvement of the ciliary body and, so far, unreported GNAQ and SF3B1 mutations in ring melanoma. Therefore, this report gives new genetic background information on this ocular tumor usually leading to enucleation.

UR - https://www.scopus.com/pages/publications/85131858459

U2 - 10.3389/fonc.2022.873252

DO - 10.3389/fonc.2022.873252

M3 - Journal articles

AN - SCOPUS:85131858459

SN - 2234-943X

VL - 12

JO - Frontiers in Oncology

JF - Frontiers in Oncology

M1 - 873252

ER -

Case Report: GNAQ- and SF3B1 Mutations in an Aggressive Case of Relapsing Uveal Ring Melanoma

Abstract

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