Metastatic cluster 2-related pheochromocytoma/paraganglioma: a single-center experience and systematic review

Risk of metastatic disease in the cluster 2-related pheochromocytoma/paraganglioma (PPGL) is low. In MEN2 patients, identification of origin of met astases from pheochromocytoma (PCC) or medullary thyroid carcinoma (MTC) is challenging as both are of neuroendocrine origin. We aim to describe our exp...

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Autores principales:	Sandeep Kumar, Anurag Ranjan Lila, Saba Samad Memon, Vijaya Sarathi, Virendra A Patil, Santosh Menon, Neha Mittal, Gagan Prakash, Gaurav Malhotra, Nalini S Shah, Tushar R BandgarDepartment of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India
Formato:	article
Lenguaje:	EN
Publicado:	Bioscientifica 2021
Materias:	metastatic pheochromocytoma men2a men2b nf1 cluster 2 Diseases of the endocrine glands. Clinical endocrinology RC648-665
Acceso en línea:	https://doi.org/10.1530/EC-21-0455 https://doaj.org/article/cefb88e263574b63888ce8b715db67ad
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spelling	oai:doaj.org-article:cefb88e263574b63888ce8b715db67ad2021-11-16T06:42:14ZMetastatic cluster 2-related pheochromocytoma/paraganglioma: a single-center experience and systematic reviewhttps://doi.org/10.1530/EC-21-04552049-3614https://doaj.org/article/cefb88e263574b63888ce8b715db67ad2021-11-01T00:00:00Zhttps://ec.bioscientifica.com/view/journals/ec/10/11/EC-21-0455.xmlSandeep Kumarhttps://doaj.org/toc/2049-3614Risk of metastatic disease in the cluster 2-related pheochromocytoma/paraganglioma (PPGL) is low. In MEN2 patients, identification of origin of met astases from pheochromocytoma (PCC) or medullary thyroid carcinoma (MTC) is challenging as both are of neuroendocrine origin. We aim to describe our experience and perform a systematic review to assess prevalence, demographics, biochemistry, diagnostic evaluation, management, and predictors of cluster 2-related metastatic PPGL. Retrospective analysis of 3 cases from our cohort and 43 cases from world literature was done. For calculation of prevalence, all reported patients (n = 3063) of cluster 2 were included. We found that the risk of metastasis in cluster 2-related PPGL was 2.6% (2% i n RET, 5% in NF1, 4.8% in TMEM127 and 16.7% in MAX variation). In metastatic PCC in MEN2, median age was 39 years, bilateral tumors were present in 71% and median tumor si ze was 9.7 cm (range 4–19) with 43.5% mortality. All patients had a primary tumor si ze ≥4 cm. Origin of primary tumor was diagnosed by histopathology of metastatic lesion in 1 1 (57.9%), 131I-MIBG scan in 6 (31.6%), and selective venous sampling and CT in 1 (5.3%) patient each. In subgroup of neurofibromatosis 1 (NF1), median age was 46 years (range 14– 59) with median tumor size 6 cm and 57% mortality. To conclude, the risk of metastati c disease in cluster 2-related PPGL is low, being especially high in tumors with size ≥4 cm and associated with high mortality. One-third patients of NF1 with metastatic PPGL had presented in second decade of life. Long-term studies are needed to formulate management recommendations.Sandeep KumarAnurag Ranjan LilaSaba Samad MemonVijaya SarathiVirendra A PatilSantosh MenonNeha MittalGagan PrakashGaurav MalhotraNalini S ShahTushar R BandgarDepartment of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, IndiaBioscientificaarticlemetastatic pheochromocytomamen2amen2bnf1cluster 2Diseases of the endocrine glands. Clinical endocrinologyRC648-665ENEndocrine Connections, Vol 10, Iss 11, Pp 1463-1476 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	metastatic pheochromocytoma men2a men2b nf1 cluster 2 Diseases of the endocrine glands. Clinical endocrinology RC648-665
spellingShingle	metastatic pheochromocytoma men2a men2b nf1 cluster 2 Diseases of the endocrine glands. Clinical endocrinology RC648-665 Sandeep Kumar Anurag Ranjan Lila Saba Samad Memon Vijaya Sarathi Virendra A Patil Santosh Menon Neha Mittal Gagan Prakash Gaurav Malhotra Nalini S Shah Tushar R BandgarDepartment of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India Metastatic cluster 2-related pheochromocytoma/paraganglioma: a single-center experience and systematic review
description	Risk of metastatic disease in the cluster 2-related pheochromocytoma/paraganglioma (PPGL) is low. In MEN2 patients, identification of origin of met astases from pheochromocytoma (PCC) or medullary thyroid carcinoma (MTC) is challenging as both are of neuroendocrine origin. We aim to describe our experience and perform a systematic review to assess prevalence, demographics, biochemistry, diagnostic evaluation, management, and predictors of cluster 2-related metastatic PPGL. Retrospective analysis of 3 cases from our cohort and 43 cases from world literature was done. For calculation of prevalence, all reported patients (n = 3063) of cluster 2 were included. We found that the risk of metastasis in cluster 2-related PPGL was 2.6% (2% i n RET, 5% in NF1, 4.8% in TMEM127 and 16.7% in MAX variation). In metastatic PCC in MEN2, median age was 39 years, bilateral tumors were present in 71% and median tumor si ze was 9.7 cm (range 4–19) with 43.5% mortality. All patients had a primary tumor si ze ≥4 cm. Origin of primary tumor was diagnosed by histopathology of metastatic lesion in 1 1 (57.9%), 131I-MIBG scan in 6 (31.6%), and selective venous sampling and CT in 1 (5.3%) patient each. In subgroup of neurofibromatosis 1 (NF1), median age was 46 years (range 14– 59) with median tumor size 6 cm and 57% mortality. To conclude, the risk of metastati c disease in cluster 2-related PPGL is low, being especially high in tumors with size ≥4 cm and associated with high mortality. One-third patients of NF1 with metastatic PPGL had presented in second decade of life. Long-term studies are needed to formulate management recommendations.
format	article
author	Sandeep Kumar Anurag Ranjan Lila Saba Samad Memon Vijaya Sarathi Virendra A Patil Santosh Menon Neha Mittal Gagan Prakash Gaurav Malhotra Nalini S Shah Tushar R BandgarDepartment of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India
author_facet	Sandeep Kumar Anurag Ranjan Lila Saba Samad Memon Vijaya Sarathi Virendra A Patil Santosh Menon Neha Mittal Gagan Prakash Gaurav Malhotra Nalini S Shah Tushar R BandgarDepartment of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai, India
author_sort	Sandeep Kumar
title	Metastatic cluster 2-related pheochromocytoma/paraganglioma: a single-center experience and systematic review
title_short	Metastatic cluster 2-related pheochromocytoma/paraganglioma: a single-center experience and systematic review
title_full	Metastatic cluster 2-related pheochromocytoma/paraganglioma: a single-center experience and systematic review
title_fullStr	Metastatic cluster 2-related pheochromocytoma/paraganglioma: a single-center experience and systematic review
title_full_unstemmed	Metastatic cluster 2-related pheochromocytoma/paraganglioma: a single-center experience and systematic review
title_sort	metastatic cluster 2-related pheochromocytoma/paraganglioma: a single-center experience and systematic review
publisher	Bioscientifica
publishDate	2021
url	https://doi.org/10.1530/EC-21-0455 https://doaj.org/article/cefb88e263574b63888ce8b715db67ad
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Metastatic cluster 2-related pheochromocytoma/paraganglioma: a single-center experience and systematic review

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