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Case Report: Composite pheochromocytoma with ganglioneuroma component: A report of three cases
Composite pheochromocytoma (CP) is a very rare tumor originating from neural crest cells, predominantly composed of pheochromocytoma (PCC), a chromaffin cell tumor arising in adrenal medulla, and ganglioneuroma, a tumor derived from autonomic ganglion cells of the nervous system. Moreover, CP may be...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9515550/ https://www.ncbi.nlm.nih.gov/pubmed/36187102 http://dx.doi.org/10.3389/fendo.2022.903085 |
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author | Araujo, Paula B. Carvallo, Mirna S. Vidal, Ana P. Nascimento, João B. Wo, Julia M. Naliato, Erika O. Cunha Neto, Silvio H. Conceição, Flavia L. Fontes, Rosita de Lima, Vinicius V. Carvalho, Denise P. Soares, Paula Lima, Jorge Lourenço, Delmar M. Violante, Alice Helena D. |
author_facet | Araujo, Paula B. Carvallo, Mirna S. Vidal, Ana P. Nascimento, João B. Wo, Julia M. Naliato, Erika O. Cunha Neto, Silvio H. Conceição, Flavia L. Fontes, Rosita de Lima, Vinicius V. Carvalho, Denise P. Soares, Paula Lima, Jorge Lourenço, Delmar M. Violante, Alice Helena D. |
author_sort | Araujo, Paula B. |
collection | PubMed |
description | Composite pheochromocytoma (CP) is a very rare tumor originating from neural crest cells, predominantly composed of pheochromocytoma (PCC), a chromaffin cell tumor arising in adrenal medulla, and ganglioneuroma, a tumor derived from autonomic ganglion cells of the nervous system. Moreover, CP may be present in the hereditary syndromes of which pheochromocytoma is part. Literature offers scarce data on this subject, and particularly about its biological behavior, clinical evolution, and molecular profile. We report the phenotype and outcome of three cases of CP (PCC and ganglioneuroma components), followed up at the Endocrine Service of the Clementino Fraga Filho University Hospital, Federal University of Rio de Janeiro, UFRJ, Rio de Janeiro, Brazil. Two nonsyndromic patients (cases 1 and 2) were negative to germline mutations in genes VHL, SDHB, SDHC, SDHD, SDHAF2, TMEM127, and MAX, while the third case (case 3) had clinical diagnosis of neurofibromatosis syndrome. Cases 1, 2, and 3 were diagnosed at 29, 39, and 47 years old, respectively, and were followed up for 3, 17, and 9 years without no CP recurrence. All cases had apparent symptoms of catecholaminergic excess secreted by PCC. Ganglioneuroma, the neurogenic component present in all three cases, had a percentage representation ranging from 5% to 15%. Tumors were unilateral and large, measuring 7.0 cm × 6.0 cm × 6.0 cm, 6.0 cm × 4.0 cm × 3.2 cm, and 7.5 cm × 6.0 cm × 4.5 cm, respectively. All cases underwent adrenalectomy with no recurrence, metastasis, or development of contralateral tumor during follow-up. Genetic testing has been scarcely offered to CP cases. However, a similar frequency of genetic background is found when compared with classic PCC, mainly by the overrepresentation of NF1 cases in the CP subset. By literature review, we identified a notorious increase in cases reported with CP in the last decade, especially in the last 3 years, indicating a recent improvement in the diagnosis of this rare disorder in clinical practice. |
format | Online Article Text |
id | pubmed-9515550 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-95155502022-09-29 Case Report: Composite pheochromocytoma with ganglioneuroma component: A report of three cases Araujo, Paula B. Carvallo, Mirna S. Vidal, Ana P. Nascimento, João B. Wo, Julia M. Naliato, Erika O. Cunha Neto, Silvio H. Conceição, Flavia L. Fontes, Rosita de Lima, Vinicius V. Carvalho, Denise P. Soares, Paula Lima, Jorge Lourenço, Delmar M. Violante, Alice Helena D. Front Endocrinol (Lausanne) Endocrinology Composite pheochromocytoma (CP) is a very rare tumor originating from neural crest cells, predominantly composed of pheochromocytoma (PCC), a chromaffin cell tumor arising in adrenal medulla, and ganglioneuroma, a tumor derived from autonomic ganglion cells of the nervous system. Moreover, CP may be present in the hereditary syndromes of which pheochromocytoma is part. Literature offers scarce data on this subject, and particularly about its biological behavior, clinical evolution, and molecular profile. We report the phenotype and outcome of three cases of CP (PCC and ganglioneuroma components), followed up at the Endocrine Service of the Clementino Fraga Filho University Hospital, Federal University of Rio de Janeiro, UFRJ, Rio de Janeiro, Brazil. Two nonsyndromic patients (cases 1 and 2) were negative to germline mutations in genes VHL, SDHB, SDHC, SDHD, SDHAF2, TMEM127, and MAX, while the third case (case 3) had clinical diagnosis of neurofibromatosis syndrome. Cases 1, 2, and 3 were diagnosed at 29, 39, and 47 years old, respectively, and were followed up for 3, 17, and 9 years without no CP recurrence. All cases had apparent symptoms of catecholaminergic excess secreted by PCC. Ganglioneuroma, the neurogenic component present in all three cases, had a percentage representation ranging from 5% to 15%. Tumors were unilateral and large, measuring 7.0 cm × 6.0 cm × 6.0 cm, 6.0 cm × 4.0 cm × 3.2 cm, and 7.5 cm × 6.0 cm × 4.5 cm, respectively. All cases underwent adrenalectomy with no recurrence, metastasis, or development of contralateral tumor during follow-up. Genetic testing has been scarcely offered to CP cases. However, a similar frequency of genetic background is found when compared with classic PCC, mainly by the overrepresentation of NF1 cases in the CP subset. By literature review, we identified a notorious increase in cases reported with CP in the last decade, especially in the last 3 years, indicating a recent improvement in the diagnosis of this rare disorder in clinical practice. Frontiers Media S.A. 2022-09-14 /pmc/articles/PMC9515550/ /pubmed/36187102 http://dx.doi.org/10.3389/fendo.2022.903085 Text en Copyright © 2022 Araujo, Carvallo, Vidal, Nascimento, Wo, Naliato, Cunha Neto, Conceição, Fontes, de Lima, Carvalho, Soares, Lima, Lourenço and Violante https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Endocrinology Araujo, Paula B. Carvallo, Mirna S. Vidal, Ana P. Nascimento, João B. Wo, Julia M. Naliato, Erika O. Cunha Neto, Silvio H. Conceição, Flavia L. Fontes, Rosita de Lima, Vinicius V. Carvalho, Denise P. Soares, Paula Lima, Jorge Lourenço, Delmar M. Violante, Alice Helena D. Case Report: Composite pheochromocytoma with ganglioneuroma component: A report of three cases |
title | Case Report: Composite pheochromocytoma with ganglioneuroma component: A report of three cases |
title_full | Case Report: Composite pheochromocytoma with ganglioneuroma component: A report of three cases |
title_fullStr | Case Report: Composite pheochromocytoma with ganglioneuroma component: A report of three cases |
title_full_unstemmed | Case Report: Composite pheochromocytoma with ganglioneuroma component: A report of three cases |
title_short | Case Report: Composite pheochromocytoma with ganglioneuroma component: A report of three cases |
title_sort | case report: composite pheochromocytoma with ganglioneuroma component: a report of three cases |
topic | Endocrinology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9515550/ https://www.ncbi.nlm.nih.gov/pubmed/36187102 http://dx.doi.org/10.3389/fendo.2022.903085 |
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