scholarly journals Intestinal Obstruction and Pheochromocytoma in a Patient Suffering from von Recklinghausen's Disease

2009 ◽  
Vol 2 ◽  
pp. CMED.S3315
Author(s):  
B. Bouhanick ◽  
M. Berry ◽  
S. Hascouet ◽  
J. Selves ◽  
J.M. Coindre ◽  
...  
Keyword(s):  
Adrenal Gland ◽  
Intestinal Obstruction ◽  
Surgical Resection ◽  
Neurofibromatosis Type 1 ◽  
Complex Disease ◽  
Malignant Tumors ◽  
Neurofibromatosis Type ◽  
Left Adrenal Gland ◽  
Inherited Diseases

GISTs are rare neoplasms, which were recently identified to be a distinct pathologic entity. They can develop in patients with neurofibromatosis type 1 (NF1) or may be sporadic. NF1 is one of the most common inherited diseases and is a complex disease, with patients having an increased prevalence of benign and malignant tumors, including pheochromocytomas. The association of pheochromocytoma(s) and GISTs in NF1 is very rare. We report an additional case of this triple association in a normotensive 60-year-old female with NF1 admitted for intestinal obstruction: a pheochromocytoma of the left adrenal gland was discovered and surgical resection is performed. We provide an overview of the literature. The coexistence of NF1-related pheochromocytoma and GISTs is uncommon, but perhaps not fortuitous, and endocrinologists should be aware of this.

Inflammatory myofibroblastic tumour causing intestinal obstruction in a patient with neurofibromatosis type 1

2021 ◽  
Vol 103 (2) ◽  
pp. e53-e55
Author(s):  
XE Chuang ◽  
DYS Chan ◽  
ML Oon ◽  
S Wang ◽  
CLK Chia
Keyword(s):  
Intestinal Obstruction ◽  
Neurofibromatosis Type 1 ◽  
Bowel Resection ◽  
Neurofibromatosis Type ◽  
Resection Margins ◽  
Soft Tissue Tumours ◽  
En Bloc ◽  
Biological Behaviour ◽  
Rare Tumours

Inflammatory myofibroblastic tumours (IMTs) are rare tumours with unpredictable biological behaviour ranging from benign to locally invasive and rarely, distant metastasis. While neurofibromatosis type 1 (NF1) may manifest with gastrointestinal soft tissue tumours, this is the first report in the literature that describes an IMT occurring in a NF1 patient who presented with intestinal obstruction. Our patient presented with intestinal obstruction secondary to an obstructing terminal ileum mesenteric tumour. En bloc bowel resection was performed, with histology revealing an IMT and an adjacent neurofibroma. The resection margins were clear and the patient was free of recurrence at six months.

scholarly journals Surgical resection of rare internal jugular vein aneurysm in neurofibromatosis type 1

2017 ◽  
Vol 5 (12) ◽  
pp. 419-422 ◽  
Author(s):  
Khortnal Delvecchio ◽  
Fazaldin Moghul ◽  
Bipinchandra Patel ◽  
Susan Seman
Keyword(s):  
Surgical Resection ◽  
Internal Jugular Vein ◽  
Neurofibromatosis Type 1 ◽  
Jugular Vein ◽  
Neurofibromatosis Type

scholarly journals Establishing the diagnosis neurofibromatosis type 1: A rare case

2019 ◽  
Author(s):  
Dyatiara Devy ◽  
D. Damayanti
Keyword(s):  
Neurofibromatosis Type 1 ◽  
De Novo ◽  
Malignant Tumors ◽  
Neurofibromatosis Type ◽  
The Body ◽  
Multisystem Disorder ◽  
Wide Range ◽  
Multidisciplinary Clinic ◽  
History Of

Neurofibromatosis type 1 (NF1) or Von Recklinghausen's disease is a dominantly inherited genetic, multisystem disorder. Individuals with neurofibromatosis type 1 are prone to develop benign and malignant tumors of the CNS and peripheral nervous system, in addition to malignant diseases affecting other parts of the body. About 50% of individuals with neurofibromatosis type 1 have no family history of the disease and the disease is due to de novo (spontaneous) mutations. Early diagnosis is challenging because of its extremely variable characteristics. Some individuals may be mildly affected showing minimal signs, whereas others are severely afflicted. Individuals with NF-1 are best cared for within a multidisciplinary clinic, which has access to a wide range of subspecialists. The dermatologist has a role not only in the diagnosis of NF1 and differentiating it from other similar disorders, but also in the recognition of rare associated skin manifestations.

Chromosome 17 loss-of-heterozygosity studies in benign and malignant tumors in neurofibromatosis type 1

2000 ◽  
Vol 28 (4) ◽  
pp. 425-431 ◽  
Author(s):  
Sonja A. Rasmussen ◽  
Jennifer Overman ◽  
Susanne A.M. Thomson ◽  
Steven D. Colman ◽  
Corinne R. Abernathy ◽  
...  
Keyword(s):  
Loss Of Heterozygosity ◽  
Neurofibromatosis Type 1 ◽  
Malignant Tumors ◽  
Neurofibromatosis Type ◽  
Chromosome 17

scholarly journals A Case Report of a Malignant Peripheral Nerve Sheath Tumor of the Oral Cavity in Neurofibromatosis Type 1

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Özmen Öztürk ◽  
Alper Tutkun
Keyword(s):  
Peripheral Nerve ◽  
Neurofibromatosis Type 1 ◽  
Malignant Tumors ◽  
Rapid Change ◽  
Neurofibromatosis Type ◽  
Nerve Sheath Tumor ◽  
Peripheral Nerve Sheath Tumors ◽  
Nerve Sheath ◽  
Adjacent Structures

Patients with neurofibromatosis type 1 develop both benign and malignant tumors at an increased frequency. Most of the malignant peripheral nerve sheath tumors (MPNSTs) are considered as high-grade sarcomas originating from tissues of mesenchymal origin. It is generally accepted that MPNSTs occur in about 2% to 5% of neurofibromatosis patients. In this paper, we present a 16-year-old male patient with neurofibromatosis who developed MPNST of the retromolar area. The mass enlarged rapidly in a period of 6 weeks. The patient was treated surgically, and a tumor mass with a diameter of  cm was excised, but after 8 months a recurrence was observed at the same site. The sarcomatous change in a neurofibroma has an extremely poor prognosis, so patients with neurofibromatosis should be closely monitored for a possible malignancy. A rapid change in size of a preexisting neurofibroma, infiltration of the adjacent structures, intralesional hemorrhage, and pain indicate a possible malignant transformation to MPNST.

scholarly journals Malignant Peripheral Nerve Sheath Tumor of the Inguinum and Angiosarcoma of the Scalp in a Child with Neurofibromatosis Type 1

2017 ◽  
Vol 2017 ◽  
pp. 1-4
Author(s):  
Marija Milković Periša ◽  
Tihana Džombeta ◽  
Jasminka Stepan Giljević ◽  
Božo Krušlin
Keyword(s):  
Peripheral Nerve ◽  
Neurofibromatosis Type 1 ◽  
Malignant Tumors ◽  
Young Patients ◽  
Neurofibromatosis Type ◽  
Nerve Sheath Tumor ◽  
Peripheral Nerve Sheath Tumor ◽  
Nerve Sheath ◽  
The Right

Benign and malignant tumors are common in the setting of neurofibromatosis type 1 (NF1). Malignant peripheral nerve sheath tumor (MPNST) and angiosarcoma are rare tumors in children and adolescents and mostly occur in young patients in relation to NF1. Both histological types can be present in the same tumor mass in patients with NF1. We present a case of 12.5-year-old girl with NF1 who first presented with MPNST of the right inguinal region and 1.5 years later with unrelated angiosarcoma of the scalp.

scholarly journals Association between Neurofibromatosis Type 1 and Breast Cancer: A Report of Two Cases with a Review of the Literature

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Yoon Nae Seo ◽  
Young Mi Park
Keyword(s):  
Breast Cancer ◽  
Neurofibromatosis Type 1 ◽  
Malignant Tumors ◽  
Genetic Diseases ◽  
Neurofibromatosis Type ◽  
Review Of The Literature ◽  
Increased Risk

Neurofibromatosis type 1 (NF1) is one of the most common genetic diseases in humans and is associated with various benign and malignant tumors, including breast cancer. However, an increased risk of breast cancer in NF1 patients has not been widely recognized or accepted. Here, we report two cases of breast cancer in NF1 patients and review the literature on the association between NF1 and breast cancer.

scholarly journals Deep Vein Thrombosis in the Setting of Neurofibromatosis Type 1: Case Report

2021 ◽  
Author(s):  
Fernando Guedes ◽  
Francisco Torrão ◽  
Gabriel E. Sanches ◽  
Ana Caroline Siquara-de-Sousa ◽  
Arno von Ristow ◽  
...  
Keyword(s):  
Deep Vein Thrombosis ◽  
Surgical Resection ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Neurological Deficits ◽  
Histopathological Diagnosis ◽  
Genetic Syndrome ◽  
Vein Thrombosis ◽  
Deep Vein

Abstract Background Neurofibromatosis type 1 (NF1) is a genetic syndrome which typically presents with neurological manifestations. Some of the patients may also present with vasculopathies, among which arterial aneurysms and stenosis are the most common. Deep vein thrombosis (DVT) has rarely been described, and, to the best of our knowledge, the present is the first report of DVT due to venous compression by a neurofibroma in the setting of NF1. Case presentation This is the case of a 23-year-old male with NF1 who experienced DVT due to compression of the left posterior tibial veins by a large tumor arising from the tibial nerve. The DVT was acutely treated with enoxaparin and then with rivaroxaban. Two months after the diagnosis, Doppler ultrasonography showed partial recanalization and persistence of the DVT. The patient was then referred to neurosurgery for surgical resection of the tumor. There were no complications during the procedure, and the patient did not present postoperative neurological deficits. The final histopathological diagnosis was of a benign neurofibroma. After one year of follow-up with vascular surgery, the patient presented no more episodes of DVT. Conclusion In case there is a tumor compressing the deep vessels of the leg and promoting DVT, surgical resection with microsurgical techniques may be curative.

Trametinib for aggressive gliomas in adults with neurofibromatosis type 1.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e13562-e13562
Author(s):  
Carlos G Romo ◽  
Bronwyn L Slobogean ◽  
Lindsay Karen Blair ◽  
Jaishri O'Neill Blakeley
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Clinical Benefit ◽  
Malignant Tumors ◽  
Synergistic Effects ◽  
Single Agent ◽  
Retrospective Chart Review ◽  
Optimal Dose ◽  
Neurofibromatosis Type ◽  
Low Grade

e13562 Background: Neurofibromatosis type 1 (NF1) is caused by mutations of the tumor suppressor gene NF1 resulting in decreased levels of neurofibromin and dysregulation of the RAS pathway, including MEK/ERK upregulation. NF1 is characterized by multiple benign and malignant tumors. Central nervous system tumors have an overall standardized incidence ratio of 37.5 in population studies with high rates of aggressive gliomas in adults with NF1. The response to standard glioma therapies is mixed. MEK1/2 inhibitors have shown activity in NF1 driven plexiform neurofibromas and low grade gliomas, however, data is lacking about the optimal dose or sequencing of MEK1/2 inhibitors for adults with NF1 associated aggressive gliomas. We present recent experiences with the MEK1/2 inhibitor trametinib in adults with NF1 and aggressive gliomas. Methods: A retrospective chart review was conducted on all adult patients with NF1 and astrocytoma treated with trametinib at the Johns Hopkins Brain Cancer Program between 2016-2018. Results: Three patients met selection criteria. Two received trametinib as initial therapy (2 mg daily). All developed an acneiform rash; one had transient transaminitis requiring temporary discontinuation and subsequent dose reductions. Clinical benefit was achieved associated with two partial radiographic responses. Conclusions: Astrocytomas in adults with NF1 often have a more aggressive course than suggested by histology. The cases presented here demonstrate clinical benefit from single agent MEK inhibition as well as possible synergistic effects with conventional therapies for gliomas in this patient population. These observations highlight the need for further research in this area. [Table: see text]

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