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Activity of selumetinib in neurofibromatosis type 1–related plexiform neurofibromas

Build and Broaden 3.0 AND Program Evaluation

[No authors listed]
GSID: VWtW5AiIrvsJ
E Dombi, A Baldwin, LJ Marcus… - … England Journal of …, 2016 - Mass Medical Soc

Background Effective medical therapies are lacking for the treatment of neurofibromatosis type 1–related plexiform neurofibromas, which are characterized by elevated RAS–mitogen-activated protein kinase (MAPK) signaling. Methods We conducted a phase 1 trial of selumetinib (AZD6244 or ARRY-142886), an oral...

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Dombi, E., Baldwin, A., Marcus, L. J., Fisher, M. J., Weiss, B., Kim, A., ... & Widemann, B. C. (2016). Activity of selumetinib in neurofibromatosis type 1–related plexiform neurofibromas. New England Journal of Medicine, 375(26), 2550-2560.
Dombi, Eva, et al. "Activity of selumetinib in neurofibromatosis type 1–related plexiform neurofibromas." New England Journal of Medicine 375.26 (2016): 2550-2560.
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Novel in-frame deletion mutation c.177_179delTAC of neurofibromatosis type 1 in a Chinese 4-year-old boy with binocular blindness.

International journal of ophthalmology

Peng J, Zhang J, Zhang Q, Zhao PQ, Yao ZR.
PMID: 26558229
Int J Ophthalmol. 2015 Oct 18;8(5):1078-9. doi: 10.3980/j.issn.2222-3959.2015.05.39. eCollection 2015.

No abstract available.

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Peng J, Zhang J, Zhang Q, et al. Novel in-frame deletion mutation c.177_179delTAC of neurofibromatosis type 1 in a Chinese 4-year-old boy with binocular blindness. Int J Ophthalmol. 2015;8(5):1078-9doi: 10.3980/j.issn.2222-3959.2015.05.39.
Peng, J., Zhang, J., Zhang, Q., Zhao, P. Q., & Yao, Z. R. (2015). Novel in-frame deletion mutation c.177_179delTAC of neurofibromatosis type 1 in a Chinese 4-year-old boy with binocular blindness. International journal of ophthalmology, 8(5), 1078-9. https://doi.org/10.3980/j.issn.2222-3959.2015.05.39
Peng, Jie, et al. "Novel in-frame deletion mutation c.177_179delTAC of neurofibromatosis type 1 in a Chinese 4-year-old boy with binocular blindness." International journal of ophthalmology vol. 8,5 (2015): 1078-9. doi: https://doi.org/10.3980/j.issn.2222-3959.2015.05.39
Peng J, Zhang J, Zhang Q, Zhao PQ, Yao ZR. Novel in-frame deletion mutation c.177_179delTAC of neurofibromatosis type 1 in a Chinese 4-year-old boy with binocular blindness. Int J Ophthalmol. 2015 Oct 18;8(5):1078-9. doi: 10.3980/j.issn.2222-3959.2015.05.39. eCollection 2015. PMID: 26558229; PMCID: PMC4630997.
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Development of pseudarthrosis in a dysplastic clavicle: A variant of congenital pseudarthrosis?.

Journal of shoulder and elbow surgery

Lyons AR, Wallace WA.
PMID: 22971626
J Shoulder Elbow Surg. 1992 Jul;1(4):215-8. doi: 10.1016/1058-2746(92)90016-V. Epub 2009 Feb 25.

The development of a pseudarthrosis is reported in a child's right clavicle, which was previously noted to have been morphologically abnormal. Such pseudarthroses are uncommon, but they usually appear on the right side and may rarely be bilateral. The...

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Lyons AR, Wallace WA. Development of pseudarthrosis in a dysplastic clavicle: A variant of congenital pseudarthrosis?. J Shoulder Elbow Surg. 2009;1(4):215-8doi: 10.1016/1058-2746(92)90016-V.
Lyons, A. R., & Wallace, W. A. (1992). Development of pseudarthrosis in a dysplastic clavicle: A variant of congenital pseudarthrosis?. Journal of shoulder and elbow surgery, 1(4), 215-8. https://doi.org/10.1016/1058-2746(92)90016-V
Lyons, A R, and Wallace, W A. "Development of pseudarthrosis in a dysplastic clavicle: A variant of congenital pseudarthrosis?." Journal of shoulder and elbow surgery vol. 1,4 (1992): 215-8. doi: https://doi.org/10.1016/1058-2746(92)90016-V
Lyons AR, Wallace WA. Development of pseudarthrosis in a dysplastic clavicle: A variant of congenital pseudarthrosis?. J Shoulder Elbow Surg. 1992 Jul;1(4):215-8. doi: 10.1016/1058-2746(92)90016-V. Epub 2009 Feb 25. PMID: 22971626.
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Bilateral Mirror Image Cervical Neurofibroma in an Adult with Neurofibromatosis Type 1.

The Malaysian journal of medical sciences : MJMS

Pandey S, Singh K, Sharma V, Khan MT, Ghosh A, Santhosh D.
PMID: 28381935
Malays J Med Sci. 2017 Mar;24(1):117-120. doi: 10.21315/mjms2017.24.1.13. Epub 2017 Feb 24.

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterised by various phenotypic features like hyperpigmented spots, neurofibromas, Lisch nodules, skeletal abnormalities and tendency to develop neoplasms. Only few cases of Non-Familial Spinal Neurofibromatosis-1 (Non-FSNF1) have been described in...

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Pandey S, Singh K, Sharma V, et al. Bilateral Mirror Image Cervical Neurofibroma in an Adult with Neurofibromatosis Type 1. Malays J Med Sci. 2017;24(1):117-120doi: 10.21315/mjms2017.24.1.13.
Pandey, S., Singh, K., Sharma, V., Khan, M. T., Ghosh, A., & Santhosh, D. (2017). Bilateral Mirror Image Cervical Neurofibroma in an Adult with Neurofibromatosis Type 1. The Malaysian journal of medical sciences : MJMS, 24(1), 117-120. https://doi.org/10.21315/mjms2017.24.1.13
Pandey, Sharad, et al. "Bilateral Mirror Image Cervical Neurofibroma in an Adult with Neurofibromatosis Type 1." The Malaysian journal of medical sciences : MJMS vol. 24,1 (2017): 117-120. doi: https://doi.org/10.21315/mjms2017.24.1.13
Pandey S, Singh K, Sharma V, Khan MT, Ghosh A, Santhosh D. Bilateral Mirror Image Cervical Neurofibroma in an Adult with Neurofibromatosis Type 1. Malays J Med Sci. 2017 Mar;24(1):117-120. doi: 10.21315/mjms2017.24.1.13. Epub 2017 Feb 24. PMID: 28381935; PMCID: PMC5346010.
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Multiple bilateral cranial nerve schwannomas in a patient with neurofibromatosis type 2.

Asian journal of neurosurgery

Pasricha R, Borkar SA, Garg K, Joseph L, Sharma BS.
PMID: 27057224
Asian J Neurosurg. 2016 Apr-Jun;11(2):167-8. doi: 10.4103/1793-5482.177634.

No abstract available.

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Pasricha R, Borkar SA, Garg K, et al. Multiple bilateral cranial nerve schwannomas in a patient with neurofibromatosis type 2. Asian J Neurosurg. 2016;11(2):167-8doi: 10.4103/1793-5482.177634.
Pasricha, R., Borkar, S. A., Garg, K., Joseph, L., & Sharma, B. S. (2016). Multiple bilateral cranial nerve schwannomas in a patient with neurofibromatosis type 2. Asian journal of neurosurgery, 11(2), 167-8. https://doi.org/10.4103/1793-5482.177634
Pasricha, Ribhav, et al. "Multiple bilateral cranial nerve schwannomas in a patient with neurofibromatosis type 2." Asian journal of neurosurgery vol. 11,2 (2016): 167-8. doi: https://doi.org/10.4103/1793-5482.177634
Pasricha R, Borkar SA, Garg K, Joseph L, Sharma BS. Multiple bilateral cranial nerve schwannomas in a patient with neurofibromatosis type 2. Asian J Neurosurg. 2016 Apr-Jun;11(2):167-8. doi: 10.4103/1793-5482.177634. PMID: 27057224; PMCID: PMC4802939.
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Cutaneous Anaplastic Large T-Cell Lymphoma with Invasion of the Central Nervous System: A Case Report.

Brain tumor research and treatment

Seo HN, Seo JH, Lee CY, Song J, Kim JH, Kim HW.
PMID: 28516080
Brain Tumor Res Treat. 2017 Apr;5(1):45-48. doi: 10.14791/btrt.2017.5.1.45. Epub 2017 Apr 30.

Anaplastic large T-cell lymphoma (ALCL) encompasses different clinical entities that can be aggressive or localized. Scalp anaplastic lymphoma kinase (ALK)-negative ALCL is considered a localized lymphoma, and usually extends to the regional lymph nodes; intracranial invasion is rare. A...

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Seo HN, Seo JH, Lee CY, et al. Cutaneous Anaplastic Large T-Cell Lymphoma with Invasion of the Central Nervous System: A Case Report. Brain Tumor Res Treat. 2017;5(1):45-48doi: 10.14791/btrt.2017.5.1.45.
Seo, H. N., Seo, J. H., Lee, C. Y., Song, J., Kim, J. H., & Kim, H. W. (2017). Cutaneous Anaplastic Large T-Cell Lymphoma with Invasion of the Central Nervous System: A Case Report. Brain tumor research and treatment, 5(1), 45-48. https://doi.org/10.14791/btrt.2017.5.1.45
Seo, Hyun-Nam, et al. "Cutaneous Anaplastic Large T-Cell Lymphoma with Invasion of the Central Nervous System: A Case Report." Brain tumor research and treatment vol. 5,1 (2017): 45-48. doi: https://doi.org/10.14791/btrt.2017.5.1.45
Seo HN, Seo JH, Lee CY, Song J, Kim JH, Kim HW. Cutaneous Anaplastic Large T-Cell Lymphoma with Invasion of the Central Nervous System: A Case Report. Brain Tumor Res Treat. 2017 Apr;5(1):45-48. doi: 10.14791/btrt.2017.5.1.45. Epub 2017 Apr 30. PMID: 28516080; PMCID: PMC5433952.
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Determination of the mutant allele frequency in patients with neurofibromatosis type 2 and somatic mosaicism by means of deep sequencing.

Genes, chromosomes & cancer

Spyra M, Otto B, Schön G, Kehrer-Sawatzki H, Mautner VF.
PMID: 26031996
Genes Chromosomes Cancer. 2015 Aug;54(8):482-488. doi: 10.1002/gcc.22259. Epub 2015 May 29.

Neurofibromatosis Type 2 (NF2) is an autosomal disorder caused by mutations of the NF2 gene. More than half of all NF2 patients have unaffected parents and carry de novo mutations, which may be of prezygotic or postzygotic origin. The...

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Spyra M, Otto B, Schön G, et al. Determination of the mutant allele frequency in patients with neurofibromatosis type 2 and somatic mosaicism by means of deep sequencing. Genes Chromosomes Cancer. 2015;54(8):482-488doi: 10.1002/gcc.22259.
Spyra, M., Otto, B., Schön, G., Kehrer-Sawatzki, H., & Mautner, V. F. (2015). Determination of the mutant allele frequency in patients with neurofibromatosis type 2 and somatic mosaicism by means of deep sequencing. Genes, chromosomes & cancer, 54(8), 482-488. https://doi.org/10.1002/gcc.22259
Spyra, Melanie, et al. "Determination of the mutant allele frequency in patients with neurofibromatosis type 2 and somatic mosaicism by means of deep sequencing." Genes, chromosomes & cancer vol. 54,8 (2015): 482-488. doi: https://doi.org/10.1002/gcc.22259
Spyra M, Otto B, Schön G, Kehrer-Sawatzki H, Mautner VF. Determination of the mutant allele frequency in patients with neurofibromatosis type 2 and somatic mosaicism by means of deep sequencing. Genes Chromosomes Cancer. 2015 Aug;54(8):482-488. doi: 10.1002/gcc.22259. Epub 2015 May 29. PMID: 26031996.
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Role of ultrasonography in detection of renal artery pseudoaneurysm caused by retroperitoneal malignant peripheral nerve sheath tumor in a patient with neurofibromatosis type 1.

Journal of medical ultrasonics (2001)

Jha A, Gupta P, Wahab S, Gupta G, Zaidi SY.
PMID: 27277639
J Med Ultrason (2001). 2014 Jan;41(1):87-91. doi: 10.1007/s10396-013-0467-y. Epub 2013 Jun 11.

Malignant peripheral nerve sheath tumors (MPNSTs) are extremely uncommon neoplasms, predominantly seen within the deep soft tissues of the extremities, in close proximity to the nerve trunks. Retroperitoneal MPNSTs are exceedingly rare, usually seen in association with neurofibromatosis type...

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Jha A, Gupta P, Wahab S, et al. Role of ultrasonography in detection of renal artery pseudoaneurysm caused by retroperitoneal malignant peripheral nerve sheath tumor in a patient with neurofibromatosis type 1. J Med Ultrason (2001). 2013;41(1):87-91doi: 10.1007/s10396-013-0467-y.
Jha, A., Gupta, P., Wahab, S., Gupta, G., & Zaidi, S. Y. (2014). Role of ultrasonography in detection of renal artery pseudoaneurysm caused by retroperitoneal malignant peripheral nerve sheath tumor in a patient with neurofibromatosis type 1. Journal of medical ultrasonics (2001), 41(1), 87-91. https://doi.org/10.1007/s10396-013-0467-y
Jha, Abhishek, et al. "Role of ultrasonography in detection of renal artery pseudoaneurysm caused by retroperitoneal malignant peripheral nerve sheath tumor in a patient with neurofibromatosis type 1." Journal of medical ultrasonics (2001) vol. 41,1 (2014): 87-91. doi: https://doi.org/10.1007/s10396-013-0467-y
Jha A, Gupta P, Wahab S, Gupta G, Zaidi SY. Role of ultrasonography in detection of renal artery pseudoaneurysm caused by retroperitoneal malignant peripheral nerve sheath tumor in a patient with neurofibromatosis type 1. J Med Ultrason (2001). 2014 Jan;41(1):87-91. doi: 10.1007/s10396-013-0467-y. Epub 2013 Jun 11. PMID: 27277639.
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Giant xanthogranuloma of the pelvis with S1 origin: Complete removal with only posterior approach, technical note.

World journal of clinical cases

Marotta N, Landi A, Mancarella C, Rocco P, Pietrantonio A, Galati G, Bolognese A, Delfini R.
PMID: 25610853
World J Clin Cases. 2015 Jan 16;3(1):77-80. doi: 10.12998/wjcc.v3.i1.77.

Xanthogranulomas (XG) are benign proliferative disorder of histiocytes, a non-Langerhans cell histiocytosis. Whose etiology is unknown. The nature of these lesions is controversial and could be either reactive or neoplastic; the presence of monoclonal cells does, however, favor the...

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Marotta N, Landi A, Mancarella C, et al. Giant xanthogranuloma of the pelvis with S1 origin: Complete removal with only posterior approach, technical note. World J Clin Cases. 2015;3(1):77-80doi: 10.12998/wjcc.v3.i1.77.
Marotta, N., Landi, A., Mancarella, C., Rocco, P., Pietrantonio, A., Galati, G., Bolognese, A., & Delfini, R. (2015). Giant xanthogranuloma of the pelvis with S1 origin: Complete removal with only posterior approach, technical note. World journal of clinical cases, 3(1), 77-80. https://doi.org/10.12998/wjcc.v3.i1.77
Marotta, Nicola, et al. "Giant xanthogranuloma of the pelvis with S1 origin: Complete removal with only posterior approach, technical note." World journal of clinical cases vol. 3,1 (2015): 77-80. doi: https://doi.org/10.12998/wjcc.v3.i1.77
Marotta N, Landi A, Mancarella C, Rocco P, Pietrantonio A, Galati G, Bolognese A, Delfini R. Giant xanthogranuloma of the pelvis with S1 origin: Complete removal with only posterior approach, technical note. World J Clin Cases. 2015 Jan 16;3(1):77-80. doi: 10.12998/wjcc.v3.i1.77. PMID: 25610853; PMCID: PMC4295222.
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Bilateral and symmetrical anteromedial bowing of the lower limbs in a patient with neurofibromatosis type-I.

Case reports in orthopedics

Al Kaissi A, Klaushofer K, Grill F, Ganger R.
PMID: 25815222
Case Rep Orthop. 2015;2015:425970. doi: 10.1155/2015/425970. Epub 2015 Feb 28.

An 8-year-old girl was referred to our department because of generalized bowing of long bones (radii, ulnae, and femora) and significant bilateral and symmetrical posteromedial bowing of the tibiae and fibulae. The femora were laterally bowed whereas the tibiae...

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Al Kaissi A, Klaushofer K, Grill F, et al. Bilateral and symmetrical anteromedial bowing of the lower limbs in a patient with neurofibromatosis type-I. Case Rep Orthop. 2015;2015:425970doi: 10.1155/2015/425970.
Al Kaissi, A., Klaushofer, K., Grill, F., & Ganger, R. (2015). Bilateral and symmetrical anteromedial bowing of the lower limbs in a patient with neurofibromatosis type-I. Case reports in orthopedics, 2015425970. https://doi.org/10.1155/2015/425970
Al Kaissi, Ali, et al. "Bilateral and symmetrical anteromedial bowing of the lower limbs in a patient with neurofibromatosis type-I." Case reports in orthopedics vol. 2015 (2015): 425970. doi: https://doi.org/10.1155/2015/425970
Al Kaissi A, Klaushofer K, Grill F, Ganger R. Bilateral and symmetrical anteromedial bowing of the lower limbs in a patient with neurofibromatosis type-I. Case Rep Orthop. 2015;2015:425970. doi: 10.1155/2015/425970. Epub 2015 Feb 28. PMID: 25815222; PMCID: PMC4359824.
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Isolated Primary Schwannoma of Urinary Bladder.

Journal of clinical and diagnostic research : JCDR

Srinivasa Y, Bhat S, Paul F.
PMID: 27437301
J Clin Diagn Res. 2016 May;10(5):PD12-3. doi: 10.7860/JCDR/2016/19021.7829. Epub 2016 May 01.

Primary schwannoma of urinary bladder is a very rare tumour. It usually occurs in association with Von Recklinghausen's disease. It arises from Schwann's cells in the nerve sheath. We report here a very rare case of primary schwannoma of...

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Srinivasa Y, Bhat S, Paul F. Isolated Primary Schwannoma of Urinary Bladder. J Clin Diagn Res. 2016;10(5):PD12-3doi: 10.7860/JCDR/2016/19021.7829.
Srinivasa, Y., Bhat, S., & Paul, F. (2016). Isolated Primary Schwannoma of Urinary Bladder. Journal of clinical and diagnostic research : JCDR, 10(5), PD12-3. https://doi.org/10.7860/JCDR/2016/19021.7829
Srinivasa, Yateesh, et al. "Isolated Primary Schwannoma of Urinary Bladder." Journal of clinical and diagnostic research : JCDR vol. 10,5 (2016): PD12-3. doi: https://doi.org/10.7860/JCDR/2016/19021.7829
Srinivasa Y, Bhat S, Paul F. Isolated Primary Schwannoma of Urinary Bladder. J Clin Diagn Res. 2016 May;10(5):PD12-3. doi: 10.7860/JCDR/2016/19021.7829. Epub 2016 May 01. PMID: 27437301; PMCID: PMC4948477.
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Isolated plexiform neurofibroma of arm with unusual presentation - a rare case report.

Journal of clinical and diagnostic research : JCDR

Mishra PK, Dwivedi R, Shrivastava DC, Gaur SC.
PMID: 25738048
J Clin Diagn Res. 2015 Jan;9(1):RD03-4. doi: 10.7860/JCDR/2015/10530.5407. Epub 2015 Jan 01.

Plexiform neurofibroma (PNF) arises as a diffuse mass from nerve trunk and leads to overgrowth of cutis and subcutis structure. This is a case report of 20-year-old male, presented to our hospital with a giant ulcerated swelling over his...

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Mishra PK, Dwivedi R, Shrivastava DC, et al. Isolated plexiform neurofibroma of arm with unusual presentation - a rare case report. J Clin Diagn Res. 2015;9(1):RD03-4doi: 10.7860/JCDR/2015/10530.5407.
Mishra, P. K., Dwivedi, R., Shrivastava, D. C., & Gaur, S. C. (2015). Isolated plexiform neurofibroma of arm with unusual presentation - a rare case report. Journal of clinical and diagnostic research : JCDR, 9(1), RD03-4. https://doi.org/10.7860/JCDR/2015/10530.5407
Mishra, Pankaj Kumar, et al. "Isolated plexiform neurofibroma of arm with unusual presentation - a rare case report." Journal of clinical and diagnostic research : JCDR vol. 9,1 (2015): RD03-4. doi: https://doi.org/10.7860/JCDR/2015/10530.5407
Mishra PK, Dwivedi R, Shrivastava DC, Gaur SC. Isolated plexiform neurofibroma of arm with unusual presentation - a rare case report. J Clin Diagn Res. 2015 Jan;9(1):RD03-4. doi: 10.7860/JCDR/2015/10530.5407. Epub 2015 Jan 01. PMID: 25738048; PMCID: PMC4347139.
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Showing 1 to 12 of 1897 entries