Treatment decisions and the use of MEK inhibitors for children with neurofibromatosis type 1-related plexiform neurofibromas

Armstrong, Amy E.; Belzberg, Allan J.; Crawford, John R.; Hirbe, Angela C.; Wang, Zhihong J.

doi:10.1186/s12885-023-10996-y

Cited by 19 publications

(6 citation statements)

References 67 publications

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“…Patients taking selumetinib have reported improved physical function, decreased pain, better mobility, and overall mental health. Other MEK inhibitors (binimetinib, mirdametinib, and trametinib) are also currently being investigated for NF1 plexiform neurofibromas [ 21 ]. Additionally, research is being done to target the other domains of neurofibromin, along with possibly looking into vectors to deliver DNA [ 22 ].…”

Section: Neurofibromatosis 1 Andmentioning

confidence: 99%

Neurocutaneous Diseases: Diagnosis, Management, and Treatment

Kioutchoukova,

Foster,

Thakkar

et al. 2024

JCM

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Neurocutaneous disorders, also known as phakomatoses, are congenital and acquired syndromes resulting in simultaneous neurologic and cutaneous involvement. In several of these conditions, the genetic phenomenon is understood, providing a pivotal role in the development of therapeutic options. This review encompasses the discussion of the genetic and clinical involvement of neurocutaneous disorders, and examines clinical management and treatment options. With the current advances in genetics, the role of precision medicine and targeted therapy play a substantial role in addressing the management of these conditions. The interconnectedness between therapeutic options highlights the importance of precision medicine in treating each disorder’s unique molecular pathway. This review provides an extensive synthesis of ongoing and current therapeutics in the management of such clinically unique and challenging conditions.

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Section: Neurofibromatosis 1 Andmentioning

confidence: 99%

Neurocutaneous Diseases: Diagnosis, Management, and Treatment

Kioutchoukova,

Foster,

Thakkar

et al. 2024

JCM

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“…In 2020 the US Food and Drug Administration approved the first monoclonal antibody, Selumetinib, an inhibitor of MEK1/2. This treatment represents a turning point in the treatment of inoperable plexiform tumors in children older than 2 years [46]. Another therapeutic agent is Rapamycin, an inhibitor of the mTOR pathway that plays a role in activating AKT, thus being another potential drug used in the treatment of plexiform tumors.…”

Section: Drug Therapymentioning

confidence: 99%

The Importance of Molecular Testing in Neurofibromatosis Type 1: Rare Association between Two Mutational Variants in NF1 Gene and CRX Gene. Case Report and Short Literature Review

Jurca,

Petchesi,

Jurca

et al. 2024

Preprint

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Background and Objectives Neurofibromatosis 1 (NF1 MIM # 162200), also known as von Recklinghausen disease, is among the most common autosomal dominantly transmitted disorders characterized mainly by neurocutaneous manifestations such as café au lait spots, intertriginous freckling, various types of neurofibromas (cutaneous neurofibromas or plexiform tumors), neurological manifestations, and bone abnormalities. It occurs with an incidence of 1:3000–1:4000 cases. Cone-rod dystrophies belong to the large group of retinal dystrophies, a highly heterogeneous group of disorders clinically manifested mainly by damage to cone and rod cells and have a broad spectrum of clinical manifestations. A large number of genes are involved in their etiology, with more than 100 currently identified, including the CRX gene responsible for the autosomal dominant form of cone-rod dystrophy (ad CORD). Materials and Methods: The authors present an intriguing case of a patient diagnosed with Neurofibromatosis type 1 (NF1) as an infant, along with ocular involvement (myopia and astigmatism onset at age 15), which yielded a surprising molecular testing result. Results: Molecular DNA analysis identified a rare occurrence of two mutational variants, including a pathogenic variant in the NF1 gene, c.3871-2A, and a likely pathogenic variant in the CRX gene c.119G>A. Conclusions: The authors present this case to highlight the surprises offered by molecular testing in a condition where the diagnosis is usually made based on clinical criteria, thus providing patients with competent genetic advice.

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“…In 2020 the US Food and Drug Administration approved the first monoclonal antibody, Selumetinib, an inhibitor of MEK1/2. This treatment represents a turning point in the treatment of inoperable plexiform tumors in children older than 2 years [40]. Another therapeutic agent is Rapamycin, an inhibitor of the mTOR pathway that plays a role in activating AKT, thus being another potential drug used in the treatment of plexiform tumors.…”

Section: Drug Therapymentioning

confidence: 99%

The Surprises of Molecular Testing in Neurofibromatosis Type 1: Rare Association between Two Mutational Variants

Jurca,

Petchesi,

Jurca

et al. 2024

Preprint

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Background and Objectives Neurofibromatosis 1 (NF1 MIM # 162200), also known as von Recklinghausen disease, is among the most common autosomal dominantly transmitted disorders characterized mainly by neurocutaneous manifestations such as café au lait spots, intertriginous freckling, various types of neurofibromas (cutaneous neurofibromas or plexiform tumors), neurological manifestations, and bone abnormalities. It occurs with an incidence of 1:3000–1:4000 cases. Cone-rod dystrophies belong to the large group of retinal dystrophies, a highly heterogeneous group of disorders clinically manifested mainly by damage to cone and rod cells and have a broad spectrum of clinical manifestations. Many genes are involved in their etiology, with more than 100 currently identified, including the CRX gene responsible for the autosomal dominant form of cone-rod dystrophy (ad CORD). Materials and Methods: The authors present an intriguing case of a patient diagnosed with Neurofibromatosis type 1 (NF1) as an infant and ocular involvement (myopia and astigmatism onset at age 15), which yielded a surprising molecular testing result. Results: Molecular DNA analysis identified a rare occurrence of two mutational variants, including a pathogenic variant in the NF1 gene, c.3871-2A, and a likely pathogenic variant in the CRX gene c.119G>A. Conclusions: The authors present this case to highlight the surprises offered by molecular testing in a condition where the diagnosis is usually based on clinical criteria, thus providing patients with competent genetic advice.

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Treatment decisions and the use of MEK inhibitors for children with neurofibromatosis type 1-related plexiform neurofibromas

Cited by 19 publications

References 67 publications

Neurocutaneous Diseases: Diagnosis, Management, and Treatment

Neurocutaneous Diseases: Diagnosis, Management, and Treatment

The Importance of Molecular Testing in Neurofibromatosis Type 1: Rare Association between Two Mutational Variants in NF1 Gene and CRX Gene. Case Report and Short Literature Review

The Surprises of Molecular Testing in Neurofibromatosis Type 1: Rare Association between Two Mutational Variants

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