Case Report: Malignant Primary Sellar Paraganglioma With Unusual Genetic and Imaging Features

BackgroundParaganglioma occurs rarely in the sellar/parasellar region. Here, we report a patient with malignant paraganglioma with primary sellar location with unusual genetic and imaging features.Case PresentationA 31-year-old male presented with mild hypertension, headache, nausea, and vomiting. A...

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Autores principales:	Stefan Stojanoski, Henning Bünsow Boldt, Dusko Kozic, Attila Patócs, Márta Korbonits, Milica Medic-Stojanoska, Olivera Casar-Borota
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	malignant sellar paraganglioma 68Ga-DOTANOC PET/CT MRI ATRX mutations TP53 mutations Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/55c89511fd3349ca8d19e2534e0a8443
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spelling	oai:doaj.org-article:55c89511fd3349ca8d19e2534e0a84432021-11-30T14:08:07ZCase Report: Malignant Primary Sellar Paraganglioma With Unusual Genetic and Imaging Features2234-943X10.3389/fonc.2021.739255https://doaj.org/article/55c89511fd3349ca8d19e2534e0a84432021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fonc.2021.739255/fullhttps://doaj.org/toc/2234-943XBackgroundParaganglioma occurs rarely in the sellar/parasellar region. Here, we report a patient with malignant paraganglioma with primary sellar location with unusual genetic and imaging features.Case PresentationA 31-year-old male presented with mild hypertension, headache, nausea, and vomiting. A sellar/parasellar tumor mass was revealed by magnetic resonance imaging (MRI), while an endocrine work-up found partial hypopituitarism, suggesting that it was a non-functioning pituitary tumor. Antihypertensive therapy and hormone replacement were initiated. Tumor reduction was achieved with transsphenoidal neurosurgery. However, histological diagnosis was not possible due to extensive tissue necrosis. After 4 years of stable disease, the residual tumor showed re-growth requiring gamma knife radiosurgery. Four years after the radiosurgery, MRI showed a significant tumor progression leading to a second neurosurgery. This time, pathological and immunohistochemical findings revealed paraganglioma. Plasma levels of metanephrine and normetanephrine were normal. A gene sequencing panel performed on DNA extracted from blood excluded germline mutations in 17 susceptibility genes. The patient developed new tumor masses in the neck, and the third surgery was performed. Immunohistochemistry demonstrated lack of ATRX (alpha thalassemia/mental retardation syndrome X-linked) protein in tumor cells, indicating an ATRX gene mutation. Molecular genetic analysis performed on tumor DNA revealed a combination of ATRX and TP53 gene abnormalities; this was not previously reported in paraganglioma. MRI and 68Ga-DOTANOC PET/CT revealed the full extent of the disease. Therapy with somatostatin LAR and 177Lu-DOTATATE Peptide Receptor Radionuclide Therapy (PRRT) was initiated.ConclusionAlthough rare, paraganglioma should be considered in the differential diagnosis of sellar/parasellar tumor lesions, even in the absence of typical imaging features. ATRX gene mutation in paraganglioma is an early predictor of malignant behavior and a potential novel therapeutic marker when pharmacological therapy targeting mutated ATRX becomes available.Stefan StojanoskiStefan StojanoskiHenning Bünsow BoldtHenning Bünsow BoldtDusko KozicDusko KozicAttila PatócsMárta KorbonitsMárta KorbonitsMilica Medic-StojanoskaMilica Medic-StojanoskaOlivera Casar-BorotaOlivera Casar-BorotaFrontiers Media S.A.articlemalignant sellar paraganglioma68Ga-DOTANOC PET/CTMRIATRX mutationsTP53 mutationsNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENFrontiers in Oncology, Vol 11 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	malignant sellar paraganglioma 68Ga-DOTANOC PET/CT MRI ATRX mutations TP53 mutations Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	malignant sellar paraganglioma 68Ga-DOTANOC PET/CT MRI ATRX mutations TP53 mutations Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Stefan Stojanoski Stefan Stojanoski Henning Bünsow Boldt Henning Bünsow Boldt Dusko Kozic Dusko Kozic Attila Patócs Márta Korbonits Márta Korbonits Milica Medic-Stojanoska Milica Medic-Stojanoska Olivera Casar-Borota Olivera Casar-Borota Case Report: Malignant Primary Sellar Paraganglioma With Unusual Genetic and Imaging Features
description	BackgroundParaganglioma occurs rarely in the sellar/parasellar region. Here, we report a patient with malignant paraganglioma with primary sellar location with unusual genetic and imaging features.Case PresentationA 31-year-old male presented with mild hypertension, headache, nausea, and vomiting. A sellar/parasellar tumor mass was revealed by magnetic resonance imaging (MRI), while an endocrine work-up found partial hypopituitarism, suggesting that it was a non-functioning pituitary tumor. Antihypertensive therapy and hormone replacement were initiated. Tumor reduction was achieved with transsphenoidal neurosurgery. However, histological diagnosis was not possible due to extensive tissue necrosis. After 4 years of stable disease, the residual tumor showed re-growth requiring gamma knife radiosurgery. Four years after the radiosurgery, MRI showed a significant tumor progression leading to a second neurosurgery. This time, pathological and immunohistochemical findings revealed paraganglioma. Plasma levels of metanephrine and normetanephrine were normal. A gene sequencing panel performed on DNA extracted from blood excluded germline mutations in 17 susceptibility genes. The patient developed new tumor masses in the neck, and the third surgery was performed. Immunohistochemistry demonstrated lack of ATRX (alpha thalassemia/mental retardation syndrome X-linked) protein in tumor cells, indicating an ATRX gene mutation. Molecular genetic analysis performed on tumor DNA revealed a combination of ATRX and TP53 gene abnormalities; this was not previously reported in paraganglioma. MRI and 68Ga-DOTANOC PET/CT revealed the full extent of the disease. Therapy with somatostatin LAR and 177Lu-DOTATATE Peptide Receptor Radionuclide Therapy (PRRT) was initiated.ConclusionAlthough rare, paraganglioma should be considered in the differential diagnosis of sellar/parasellar tumor lesions, even in the absence of typical imaging features. ATRX gene mutation in paraganglioma is an early predictor of malignant behavior and a potential novel therapeutic marker when pharmacological therapy targeting mutated ATRX becomes available.
format	article
author	Stefan Stojanoski Stefan Stojanoski Henning Bünsow Boldt Henning Bünsow Boldt Dusko Kozic Dusko Kozic Attila Patócs Márta Korbonits Márta Korbonits Milica Medic-Stojanoska Milica Medic-Stojanoska Olivera Casar-Borota Olivera Casar-Borota
author_facet	Stefan Stojanoski Stefan Stojanoski Henning Bünsow Boldt Henning Bünsow Boldt Dusko Kozic Dusko Kozic Attila Patócs Márta Korbonits Márta Korbonits Milica Medic-Stojanoska Milica Medic-Stojanoska Olivera Casar-Borota Olivera Casar-Borota
author_sort	Stefan Stojanoski
title	Case Report: Malignant Primary Sellar Paraganglioma With Unusual Genetic and Imaging Features
title_short	Case Report: Malignant Primary Sellar Paraganglioma With Unusual Genetic and Imaging Features
title_full	Case Report: Malignant Primary Sellar Paraganglioma With Unusual Genetic and Imaging Features
title_fullStr	Case Report: Malignant Primary Sellar Paraganglioma With Unusual Genetic and Imaging Features
title_full_unstemmed	Case Report: Malignant Primary Sellar Paraganglioma With Unusual Genetic and Imaging Features
title_sort	case report: malignant primary sellar paraganglioma with unusual genetic and imaging features
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/55c89511fd3349ca8d19e2534e0a8443
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Case Report: Malignant Primary Sellar Paraganglioma With Unusual Genetic and Imaging Features

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