scholarly journals A Case of Giant Posterior Mediastinal Mass: Gastrointestinal Stromal Tumor Developed in Neurofibromatosis Type 1 Patient.

2021 ◽  
Author(s):  
Volkan ASLAN ◽  
Fatih Gürler ◽  
ozan yazıcı ◽  
özlem erdem ◽  
ali çelik ◽  
...  
Keyword(s):  
Histopathological Examination ◽  
Genetic Disorders ◽  
Neurofibromatosis Type ◽  
Skin Lesions ◽  
Posterior Mediastinum ◽  
Pathological Examination ◽  
Imatinib Treatment ◽  
First Case ◽  
Posterior Mediastinal

Abstract Introduction: Gastrointestinal Stromal Tumors mostly located in the stomach and esophageal GIST is extremely rare. Various genetic disorders increase the risk of developing GIST, among these, NF-1 is the most common. A case of posterior mediastial GIST developing in the neurofibromatosis patient has not been reported yet.Case: A 48-year-old male patient is being evaluated with complaints of dyspnea and progressive dysphagia. Computed tomography detected a cystic, lobulated contour mass that was located at the posterior mediastinum and measuring 11 x 14x12 cm. The giant semisolid mass has been dissected from adjacent the vertebra, the esophagus, pericardium and inferior pulmonary vein and Histopathological examination revealed GİST. Pathological examination of skin lesions confirmed NF-1. Finally, NF-1-associated posterior mediastinal GIST was diagnosed and adjuvant imatinib treatment was initiated. Conclusion: To the best our knowledge, this patient was the first case, who diagnosed with posterior mediastinal GIST developing on the basis of NF-1.

scholarly journals A giant posterior mediastinal malignant peripheral nerve sheath tumor and benign neurofibroma in body surface: a case report

BMC Surgery ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yan Zhang ◽  
Hongfei Cai ◽  
Guangchao Lv ◽  
Yang Li
Keyword(s):  
Peripheral Nerve ◽  
Neurofibromatosis Type ◽  
Posterior Mediastinum ◽  
Pathological Examination ◽  
Nerve Sheath Tumor ◽  
Tumor Type ◽  
Peripheral Nerve Sheath Tumor ◽  
Nerve Tumor ◽  
Nerve Sheath ◽  
Posterior Mediastinal

Abstract Background Neurofibromatosis comprises neurofibromatosis type 1 (NF1) and type 2 (NF2). Major tumor type of NF1 are neurofibroma recognized as benign peripheral nerve tumor, malignant peripheral nerve sheath tumor (MPNST), and glioma. Case presentation We report a woman with a special condition, whose tumors in body surfaces were benign neurofibroma and tumors in posterior mediastinum are MPNST. The chest-enhanced CT suggested a round soft tissue density in posteriormediastium. The diagnosis was established by pathology and immunohistochemistry. A single-stage thoracoscopic mediastinal mass resection was performed. The whole operation went smoothly and the CT scan of lungs did not show relapse of tumor three months later. Conclusions The appearance of neurofibroma should draw particular attention to the possibility of developing MPNST. More careful imaging examinations should be carried out, and pathological examination could diagnose it.

Neurofibromatosis type 1 with subarachnoid haemorrhage from the left vertebral arteriovenous fistula: case presentation and literature review

2021 ◽  
Vol 14 (2) ◽  
pp. e239880
Author(s):  
Toshinori Nishizawa ◽  
Takahiro Tsuchiya ◽  
Yoshihiro Terasawa ◽  
Yasuhiro Osugi
Keyword(s):  
Neck Pain ◽  
Subarachnoid Haemorrhage ◽  
Arteriovenous Fistula ◽  
Neurofibromatosis Type 1 ◽  
Epidural Haematoma ◽  
Neurofibromatosis Type ◽  
Sudden Onset ◽  
Vertebral Arteriovenous Fistula ◽  
First Case

We present the case of a 47-year-old woman with neurofibromatosis type 1 (NF1) with subarachnoid haemorrhage (SAH) from the left vertebral arteriovenous fistula, along with a review of previous cases. Our patient had a family history of NF1 and presented to the emergency department with a sudden-onset severe headache and neck pain. CT scan showed SAH. CT angiography revealed a left vertebral arteriovenous fistula and an epidural haematoma. She underwent direct surgery and was discharged without neurologic deficits. To our knowledge, this is the first case of SAH caused by perimedullary drainage of a vertebral arteriovenous fistula associated with NF1. In a literature search, we identified 40 cases of vertebral arteriovenous fistula associated with NF1. The majority of vertebral arteriovenous fistulas occurred on the left side and in women. Patients with vertebral arteriovenous fistula typically experience neck pain, radiculopathy, radiculomyelopathy and bruits.

scholarly journals Cognitive phenotype in neurofibromatosis type 1

Engrami ◽  
2020 ◽  
Vol 42 (2) ◽  
pp. 69-79
Author(s):  
Jelena Todorović ◽  
Dragan Pavlović ◽  
Mirna Zelić ◽  
Lana Jerkić
Keyword(s):  
Executive Functions ◽  
Genetic Disorders ◽  
Neurofibromatosis Type ◽  
Speech Disorders ◽  
Speech Development ◽  
High Rate ◽  
Planning Problem ◽  
Preschool Period ◽  
Visuospatial Perception

Neurofibromatoses are a set of different genetic disorders that have a common characteristic of the appearance of nervous system tumors. There are three forms of the disease, of which type 1 neurofibromatosis (NF 1) is the most common. NF 1 is an inherited autosomal-dominant disease, with a high rate of new mutations. In addition to the many physical manifestations and complications that occur in persons with NF 1, there are also numerous cognitive difficulties, including lower general intellectual functioning, learning difficulties, but also problems in attention, visual abilities, executive functions, and speech. Attention disorders are up to three times more common in people with NF 1, while learning disabilities are present in more than half of these subjects. Disturbances in the field of visuospatial perception are recognisable even in the preschool period. About 80% of children with NF1 exhibit various speech and language disorders: slow early speech development, slower vocabulary enrichment, syntactic, semantic and phonological speech disorders. Disruption of executive functions will manifest itself in the areas of working memory, organisation, planning / problem solving. This will reflect as the underperformance in academic achievement. Nearly one-third of these persons have emotional and social problems.

scholarly journals Secondary Sarcomas: Biology, Presentation, and Clinical Care

2020 ◽  
pp. 463-474
Author(s):  
Vanessa Eulo ◽  
Harry Lesmana ◽  
Leona A. Doyle ◽  
Kim E. Nichols ◽  
Angela C. Hirbe
Keyword(s):  
Genetic Disorders ◽  
Clinical Care ◽  
Immunosuppressive Agents ◽  
Chemical Exposure ◽  
Neurofibromatosis Type ◽  
Li Fraumeni Syndrome ◽  
Patients With Cancer ◽  
Dicer1 Syndrome ◽  
Prompt Diagnosis

Secondary sarcomas are a subset of sarcomas that occur in patients with prior cancer diagnoses and are associated with environmental or genetic factors. Although secondary sarcomas are rare in general, there are predisposing factors that can substantially increase this risk in certain populations. Herein, we review the environmental factors with the strongest association of sarcoma risk, including chemical exposure, certain viruses, cytotoxic and immunosuppressive agents, chronic edema, and radiation exposure. Additionally, the most common genetic disorders that carry a predisposition for sarcoma development will be discussed, including hereditary retinoblastoma (RB), Li-Fraumeni syndrome (LFS), neurofibromatosis type 1 (NF1), and DICER1 syndrome. Although treatment does not generally differ for sporadic versus secondary sarcomas, awareness of the risk factors can alter therapeutic strategies to minimize risk, aid prompt diagnosis by increasing clinical suspicion, and allow for appropriate surveillance and genetic counseling for those patients with cancer predisposition syndromes.

Pseudoaneurysm of the Left Common Carotid Artery With Neurofibromatosis Type 1

2020 ◽  
Vol 54 (6) ◽  
pp. 549-552
Author(s):  
Tadashi Umeno ◽  
Takashi Shuto ◽  
Hirofumi Anai ◽  
Tomoyuki Wada ◽  
Takayuki Kawashima ◽  
...  
Keyword(s):  
Carotid Artery ◽  
Neurofibromatosis Type 1 ◽  
Common Carotid Artery ◽  
Arterial Wall ◽  
Histopathological Examination ◽  
Artery Aneurysm ◽  
Neurofibromatosis Type ◽  
Left Common Carotid Artery ◽  
Risk Of Rupture

We describe a 54-year-old man with neurofibromatosis type 1 who presented with a left-sided neck mass. Computed tomography demonstrated a left common carotid artery aneurysm (51 × 33 mm). Surgery was performed because of the risk of rupture. The left common carotid artery was found to be a huge aneurysmal dilatation, and the arterial wall partially collapsed and extensively adherent to the surrounding tissues. Left common carotid artery to internal carotid artery bypass grafting was performed with a reversed saphenous vein graft. Histopathological examination revealed vascular fragility of the left carotid arterial wall.

Brain metastasis of Wilms tumor with diffuse anaplasia and complex cytogenetic phenotype in a child with neurofibromatosis Type 1

2011 ◽  
Vol 8 (4) ◽  
pp. 353-356
Author(s):  
Marianna Shvartsbeyn ◽  
Luigi Bassani ◽  
Irina Mikolaenko ◽  
Jeffrey H. Wisoff
Keyword(s):  
Brain Metastasis ◽  
Neurofibromatosis Type 1 ◽  
Wilms Tumor ◽  
Metastatic Tumor ◽  
Neurofibromatosis Type ◽  
Radiological Features ◽  
First Case ◽  
History Of ◽  
The Brain

The authors report the first case of a Wilms tumor (WT) with diffuse anaplasia metastatic to the brain in a 13-year-old girl with a history of neurofibromatosis Type 1. At presentation, the metastatic tumor had radiological features that suggested a meningioma. Histologically it was characterized by striking anaplasia and features similar to the patient's previously resected WT with diffuse anaplasia.

Gingival Enlargement in Neurofibromatosis Type 1: A Case Report and Literature Review

2010 ◽  
Vol 11 (2) ◽  
pp. 57-63 ◽  
Author(s):  
Ashu Bhardwaj ◽  
Ajay Mahajan
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Skin Lesions ◽  
Neurological Complications ◽  
Malignant Potential ◽  
Gingival Tissue ◽  
Gingival Enlargement

Abstract Aim The purpose of this article is to describe a rare case of neurofibromatosis1 (NF1) of the gingiva and a review of the current literature. Background Neurofibromatosis1 (NF1) of the gingiva is an uncommon cause of gingival enlargement. The disease is clinically characterized by epidermal melanosis, nevi, and flabby skin or bone malformations; in addition, the lesions may undergo malignant transformation. Involvement of the gingiva with or without concurrent skin lesions has been reported only occasionally. Case Description A 40-year-old male patient with a history of NF1 came to us with a chief complaint of enlargement of the gums. Clinical examination revealed diffuse gingival enlargement with no signs of inflammation. The characteristic skin lesions associated with NF1 were also present. A gingival specimen was sent for biopsy. Results Based on the history, clinical, and histological findings, NF1 was established as the cause of the gingival enlargement. Summary NF1 may affect the gingival tissue; considering the neurological complications and malignant potential, NF1 must be diagnosed early and monitored regularly. Clinical Significance The clinician should be aware of clinical and histopathological findings of NF1 considering the fact that the condition has malignant potential. Citation Mahajan A, Dixit J, Bhardwaj A. Gingival Enlargement in Neurofibromatosis Type 1: A Case Report and Literature Review. J Contemp Dent Pract [Internet]. 2010 March; 11(2):057-063. Available from: http://www.thejcdp. com/journal/view/volume11-issue2-mahajan.

scholarly journals Severe Hypercholesterolemia: A Unique Presentation of Non-Hodgkin’s Lymphoma in a Patient with Neurofibromatosis Type 1

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Kenechukwu Chudy-Onwugaje ◽  
Nnaemeka Anyadike ◽  
Yuriy Tsirlin ◽  
Ira Mayer ◽  
Rabin Rahmani
Keyword(s):  
Obstructive Jaundice ◽  
Neurofibromatosis Type 1 ◽  
Hodgkin’S Lymphoma ◽  
Neurofibromatosis Type ◽  
Hodgkin's Lymphoma ◽  
Initial Manifestation ◽  
Non Hodgkin’S Lymphoma ◽  
First Case ◽  
Non Hodgkin's Lymphoma

We report a case of non-Hodgkin’s lymphoma (NHL) with an unusual initial manifestation as severe hypercholesterolemia and obstructive jaundice in a patient with neurofibromatosis type 1 (NF 1). NHL should be considered in the evaluation of obstructive jaundice alone or in combination with severe hypercholesterolemia. Relief of biliary obstruction led to the resolution of hypercholesterolemia in our 59-year-old male patient, followed by doxorubicin-based chemotherapy for the underlying lymphoma. NF 1 is a genetic condition that results from a defect in a tumor-suppressor gene and it is likely that this led to the development of NHL in our patient. It is important that clinicians are familiar with the gastrointestinal manifestations of NF 1, especially its association with intra-abdominal malignancies, when treating patients with a personal or family history. To the best of our knowledge, this is the first case of NHL presenting initially as severe hypercholesterolemia and it is also one of the few instances where NHL has been reported in association with NF 1.

scholarly journals Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Esteban Uribe-Bojanini ◽  
Sara Hernandez-Quiceno ◽  
Alicia María Cock-Rada
Keyword(s):  
Xeroderma Pigmentosum ◽  
Excision Repair ◽  
Genetic Disorders ◽  
Clinical Manifestations ◽  
Skin Lesions ◽  
Panel Testing ◽  
First Case ◽  
Skin Malignancy ◽  
Increased Risk ◽  
History Of

Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis–Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis. Very few cases of DSC syndrome have been reported in the literature. We present a case of a 12-year-old Colombian male, with multiple skin lesions in sun-exposed areas from the age of 3 months and a history of 15 skin cancers. He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia), short stature, and microcephaly, which are features associated with DSC. Genetic testing revealed a novel germline mutation in the XP-C gene (c.547A>T). This is the first case of an XP-C mutation causing De Sanctis–Cacchione syndrome. Multigene panel testing is becoming more widely available and accessible in the clinical setting and will help rapidly unveil the molecular etiology of these rare genetic disorders.

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