Combination chemotherapy regimen in a patient with metastatic malignant pheochromocytoma and neurofibromatosis type 1

Otoukesh, Salman; Cooper, Chad J.; Lou, Wynee; Nasrazadani, Azadeh; Wampler, Mallory; Nahleh, Zenia

doi:10.12659/ajcr.890181

Cited by 5 publications

(4 citation statements)

References 16 publications

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“…There are currently no specific recommendations for the management of rare cases of advanced/malignant VHL-or NF1-associated PPGL that currently do not differ from sporadic cases. Therapeutic options include locoregional therapies, radionuclide therapy and/or chemotherapy (72,73). Targeted therapies such as sunitinib have been shown to induce a response in a VHL patient with malignant PPGL (74).…”

Section: Treatment Of Phakomatoses-associated Ppglsmentioning

confidence: 99%

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Chevalier

Dupuis²,

Jannin

et al. 2021

Front. Endocrinol.

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Phakomatoses encompass a group of rare genetic diseases, such as von Hippel-Lindau syndrome (VHL), neurofibromatosis type 1 (NF1), tuberous sclerosis complex (TSC) and Cowden syndrome (CS). These disorders are due to molecular abnormalities on the RAS-PI3K-Akt-mTOR pathway for NF1, TSC and CS, and to hypoxia sensing for VHL. Phakomatoses share some phenotypic traits such as neurological, ophthalmological and cutaneous features. Patients with these diseases are also predisposed to developing multiple endocrine tissue tumors, e.g., pheochromocytomas/paragangliomas are frequent in VHL and NF1. All forms of phakomatoses except CS may be associated with digestive neuroendocrine tumors. More rarely, thyroid cancer and pituitary or parathyroid adenomas have been reported. These susceptibilities are noteworthy, because their occurrence rate, prognosis and management differ slightly from the sporadic forms. The aim of this review is to summarize current knowledge on endocrine glands tumors associated with VHL, NF1, TSC, and CS, especially neuroendocrine tumors and pheochromocytomas/paragangliomas. We particularly detail recent advances concerning prognosis and management, especially parenchyma-sparing surgery and medical targeted therapies such as mTOR, MEK and HIF-2 α inhibitors, which have shown truly encouraging results.

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Section: Treatment Of Phakomatoses-associated Ppglsmentioning

confidence: 99%

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Chevalier

Dupuis²,

Jannin

et al. 2021

Front. Endocrinol.

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“…Malignant (neuro)endocrine tumors are generally therapyresistant exhibiting poor survival [6][7][8]. As they often resist to conventional therapies the development of a better 3D tumor model is needed to be used for further investigations and to be incorporated into research experimental design as in case of other malignancies.…”

Section: Introductionmentioning

confidence: 99%

Three Dimensional Cell Culturing for Modeling Adrenal and Pituitary Tumors

Krokker

Szabó

Németh

et al. 2021

Pathol. Oncol. Res.

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In vitro monolayer conditions are not able to reproduce the complexity of solid tumors, still, there is scarce information about the 3D cell culture models of endocrine tumor types. Therefore, our aim was to develop in vitro 3D tumor models by different methodologies for adrenocortical carcinoma (H295R), pituitary neuroendocrine tumor (RC-4B/C and GH3) and pheochromocytoma (PC-12). Various methodologies were tested. Cell biological assays (cell viability, proliferation and live cell ratio) and steroid hormone production by HPLC-MS/MS method were applied to monitor cellular well-being. Cells in hanging drops and embedded in matrigel formed multicellular aggregates but they were difficult to handle and propagate for further experiments. The most widely used methods: ultra-low attachment plate (ULA) and spheroid inducing media (SFDM) were not the most viable 3D model of RC-4B/C and GH3 cells that would be suitable for further experiments. Combining spheroid generation with matrigel scaffold H295R 3D models were viable for 7 days, RC-4B/C and GH3 3D models for 7–10 days. ULA and SFDM 3D models of PC-12 cells could be used for further experiments up to 4 days. Higher steroid production in 3D models compared to conventional monolayer culture was detected. Endocrine tumor cells require extracellular matrix as scaffold for viable 3D models that can be one reason behind the lack of the usage of endocrine 3D cultures. Our models help understanding the pathogenesis of endocrine tumors and revealing potential biomarkers and therapeutic targets. They could also serve as an excellent platform for preclinical drug test screening.

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“…We found nine cases of NF1 with metastatic PCC. The details of these cases, including one case from our center, are summarized in Table 4 ( 36 , 37 , 38 , 39 , 40 , 41 ).…”

Section: Resultsmentioning

confidence: 99%

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

Kumar¹,

Lila²,

Memon³

et al. 2021

Endocrine Connections

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Objective: Risk of metastatic disease in the cluster 2-related pheochromocytoma/paraganglioma (PPGL) is low. In MEN2 patients, identification of origin of metastases 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. Design: Retrospective study with systematic review of literature. Methods: Data of 3 cases from our cohort and 43 cases from world literature were analyzed. For calculation of prevalence, all reported patients (n=3063) of cluster 2 were included. Results: The risk of metastasis in cluster 2-related PPGL was 2.6% (2% in 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 size was 9.7 cm (range 4-19) with 43.5% mortality. All patients had primary tumor size ≥4cm. Origin of primary was diagnosed by histopathology of metastatic lesion in 11(57.9%), 131I-MIBG scan in 6(31.6%), and selective venous sampling and computed tomography in one (5.3%) each. In subgroup of NF1, median age was 46 years (range 14-59) with median tumor size 6cm and 57% mortality. Conclusion: The risk of metastatic disease in cluster 2-related PPGL is 2.6%, being especially high in tumors with size ≥4cm and is associated with high mortality. One-third patients of NF1 with metastatic PPGL had presented in 2nd decade of life. Long-term studies are needed to formulate management recommendations.

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Combination chemotherapy regimen in a patient with metastatic malignant pheochromocytoma and neurofibromatosis type 1

Cited by 5 publications

References 16 publications

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations

Three Dimensional Cell Culturing for Modeling Adrenal and Pituitary Tumors

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

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