Composite tumor with pheochromocytoma and immature neuroblastoma: report of two cases with cytogenetic analysis and discussion of current terminology

Tran, Lily C; Fitzpatrick, Carrie; Cohn, Susan L.; Pytel, Peter

doi:10.1007/s00428-017-2225-9

Cited by 10 publications

(10 citation statements)

References 14 publications

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“…Recent advances highlighted the importance of the polyamine pathway in a type of tumor closely related to PCC/PGL, such as neuroblastoma. It was long known that autonomic nervous system tumors have many important features in common, and similar features between PCC/PGL and neuroblastoma have been reported (e.g., [70][71][72]). Recent research highlighted the role for solute carrier family 3 member 2 (SLC3A2)…”

Section: Discussionmentioning

confidence: 73%

Targeting pheochromocytoma/paraganglioma with polyamine inhibitors

et al. 2020

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This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

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Section: Discussionmentioning

confidence: 73%

Targeting pheochromocytoma/paraganglioma with polyamine inhibitors

et al. 2020

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“…Composite tumors of the adrenal medulla are rare and typically consist of a predominant pattern of pheochromocytoma combined with ganglioneuroma, ganglioneuroblastoma, neuroblastoma, or, rarely, other components such as malignant peripheral nerve sheath tumor and neuroendocrine carcinoma [1,2,3]. The frequency of composite adrenal tumors has been reported as ranging from less than 3% of all adrenal gland neoplasms to between 1% and 9% of pheochromocytomas [4,5,6].…”

Section: Discussionmentioning

confidence: 99%

“…Composite adrenal medullary tumors, composed of both pheochromocytoma and ganglioneuroma, are extremely rare. Histologically, the endocrine component is that of a typical pheochromocytoma, whereas the neuronal component is characterized by mixed areas of ganglioneuroma, neuroblastoma or ganglioneuroblastoma [1,2].…”

Section: Introductionmentioning

confidence: 99%

A Composite Pheochromocytoma-ganglioneuroma: A Case Report

Mnif¹,

Zargni²,

Salah³

et al. 2019

AJMCR

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Composite pheochromocytomas are considered rare neoplasms of the adrenal gland. We report a case of composite pheochromocytoma in a 53-year-old woman, with a 4-year medical history of uncontrolled hypertension without hypokalemia and treated with three antihypertensive. A computed tomographic scan was performed, showing the presence of a spontaneously hypodense adrenal mass of 6 x 6 x 3 cm at the expense of the outer arm of the right adrenal gland, and with microcalcifications and a double component. Laboratory studies showed elevated urinary metanephrines. Diagnosis of pheochromocytoma was retained. The patient underwent surgery and pathologic examination concluded the presence of a composite pheochromocytoma.

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“…PCC and NB are the most common NCC‐derived tumors in adults and children, respectively 1‐3 . Composite pheochromocytoma refers to tumors with morphologic features of PCC and NCC‐derived tumors, such as malignant peripheral nerve sheath tumor and neuroendocrine carcinomas, within the same tumor 4,5 . Composite tumors are rare and most often combined with ganglioneuroma in composite PCC; therefore, composite tumors comprising PCC and NB are even rarer 5‐10 .…”

Section: Introductionmentioning

confidence: 99%

“… 1 , 2 , 3 Composite pheochromocytoma refers to tumors with morphologic features of PCC and NCC‐derived tumors, such as malignant peripheral nerve sheath tumor and neuroendocrine carcinomas, within the same tumor. 4 , 5 Composite tumors are rare and most often combined with ganglioneuroma in composite PCC; therefore, composite tumors comprising PCC and NB are even rarer. 5 , 6 , 7 , 8 , 9 , 10 The genetic mechanism of composite tumors with PCC and NB remains unclear; a single nucleotide polymorphism array analyzed only 1 case.…”

Section: Introductionmentioning

confidence: 99%

Oncogenic FGFR1 mutation and amplification in common cellular origin in a composite tumor with neuroblastoma and pheochromocytoma

et al. 2022

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Neuroblastoma (NB) and pheochromocytoma (PCC) are derived from neural crest cells (NCCs); however, composite tumors with NB and PCC are rare, and their underlying molecular mechanisms remain unknown. To address this issue, we performed exome and transcriptome sequencing with formalin-fixed paraffin-embedded (FFPE) samples from the NB, PCC, and mixed lesions in a patient with a composite tumor.Whole-exome sequencing revealed that most mutations (80%) were shared by all samples, indicating that NB and PCC evolved from the same clone. Notably, all samples harbored both mutation and focal amplification in the FGFR1 oncogene, resulting in an extraordinarily high expression, likely to be the main driver of this tumor.Transcriptome sequencing revealed undifferentiated expression profiles for the NB lesions. Considering that a metastatic lesion was also composite, most likely, the primitive founding lesions should differentiate into both NB and PCC. This is the first reported case with composite-NB and PCC genetically proven to harbor an oncogenic FGFR1 alteration of a common cellular origin.

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Composite tumor with pheochromocytoma and immature neuroblastoma: report of two cases with cytogenetic analysis and discussion of current terminology

Cited by 10 publications

References 14 publications

Targeting pheochromocytoma/paraganglioma with polyamine inhibitors

Targeting pheochromocytoma/paraganglioma with polyamine inhibitors

A Composite Pheochromocytoma-ganglioneuroma: A Case Report

Oncogenic FGFR1 mutation and amplification in common cellular origin in a composite tumor with neuroblastoma and pheochromocytoma

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