Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
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
_version_ 1784798508394479616
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
work_keys_str_mv AT araujopaulab casereportcompositepheochromocytomawithganglioneuromacomponentareportofthreecases
AT carvallomirnas casereportcompositepheochromocytomawithganglioneuromacomponentareportofthreecases
AT vidalanap casereportcompositepheochromocytomawithganglioneuromacomponentareportofthreecases
AT nascimentojoaob casereportcompositepheochromocytomawithganglioneuromacomponentareportofthreecases
AT wojuliam casereportcompositepheochromocytomawithganglioneuromacomponentareportofthreecases
AT naliatoerikao casereportcompositepheochromocytomawithganglioneuromacomponentareportofthreecases
AT cunhanetosilvioh casereportcompositepheochromocytomawithganglioneuromacomponentareportofthreecases
AT conceicaoflavial casereportcompositepheochromocytomawithganglioneuromacomponentareportofthreecases
AT fontesrosita casereportcompositepheochromocytomawithganglioneuromacomponentareportofthreecases
AT delimaviniciusv casereportcompositepheochromocytomawithganglioneuromacomponentareportofthreecases
AT carvalhodenisep casereportcompositepheochromocytomawithganglioneuromacomponentareportofthreecases
AT soarespaula casereportcompositepheochromocytomawithganglioneuromacomponentareportofthreecases
AT limajorge casereportcompositepheochromocytomawithganglioneuromacomponentareportofthreecases
AT lourencodelmarm casereportcompositepheochromocytomawithganglioneuromacomponentareportofthreecases
AT violantealicehelenad casereportcompositepheochromocytomawithganglioneuromacomponentareportofthreecases