2020
DOI: 10.3389/fendo.2020.00234
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A Novel MAX Gene Mutation Variant in a Patient With Multiple and “Composite” Neuroendocrine–Neuroblastic Tumors

Abstract: Pheochromocytomas (PCCs), paragangliomas (PGLs), ganglioneuroblastomas (GNBs), and ganglioneuromas (GNs) are neuroendocrine neoplasms (NENs) that were thought to share a common embryologic origin from neural crest cells. However, they rarely occur concurrently and recurrently. We describe the case of a 40-years-old woman with "composite PCC-GN" and multiple NENs and neuroblastic tumors. Case presentation: The patient was first referred to our department at the age of 15 years for paroxysmal hypertension, heada… Show more

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Cited by 22 publications
(12 citation statements)
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“…Here, all of our composite PCC/PGL-GN cases show no loss of expression of SDHB or ATRX, which suggests the lack of SDH and ATRX mutations. A review of the English literature also reveals the rarity of SDH mutation in composite PCC/PGL-GN, which might indicate its uniqueness compared with its pure counterparts ( 8 , 30 , 32 , 33 ).…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…Here, all of our composite PCC/PGL-GN cases show no loss of expression of SDHB or ATRX, which suggests the lack of SDH and ATRX mutations. A review of the English literature also reveals the rarity of SDH mutation in composite PCC/PGL-GN, which might indicate its uniqueness compared with its pure counterparts ( 8 , 30 , 32 , 33 ).…”
Section: Discussionmentioning
confidence: 99%
“…Several limitations are of concern: first, due to the limited amount of normal paired tissue and the extreme rarity of this entity, the number of cases for next-generation sequencing is small and could only represent part of the pathogenesis of composite PCC/PGL-GN. For instance, a recent case reports a MAX mutation in multiple and composite neuroendocrine-neuroblastic neoplasms ( 33 ). Besides, CP with other neurogenic components is not diagnosed in our study and needs more investigation.…”
Section: Discussionmentioning
confidence: 99%
“…A wide range of other tumors has been described in patients with MAX mutations: breast cancer, renal oncocytoma, squamous cell carcinoma of the tongue, renal carcinoma (5), ganglioneuroblastoma, ganglioneuroma, chondrosarcoma, lung adenocarcinoma, parathyroid adenomas (9,13). In patients with a combination of PA and PCC and MAX mutations (Table 1), a follicular variant of papillary thyroid cancer was described in case 2 (7), and in the son of case 1 (7) with the same confirmed mutation-deletion of exon 3-a neuroendocrine tumor of the pancreas was detected in the absence of other manifestations (14), as well as a rib chondrosarcoma and multiple parathyroid tumors in a case described by Seabrook et al (9); thus it can be assumed that for MAX mutation carriers, life-long surveillance in order to detect early various tumors may be necessary.…”
Section: Discussionmentioning
confidence: 99%
“…The association of PPGL and neuroblastic tumours is uncommon and fewer cases had a genetic link. The majority of these reported cases are composite pheochromocytomaganglioneuroma and comprised an association with MEN2 (20)(21)(22)(23)(24), VHL (25), NF1 (26)(27)(28) and, most recently (29), one case of a new MAX gene heterozygous variant, c.299G>C (p.Arg100Pro, NM_002382). Our case is, to the best of our knowledge, the first with a simultaneous PPGL and neuroblastoma presenting as two distinct entities in association with a MAX pathogenic variant.…”
Section: Discussionmentioning
confidence: 99%