Abstract
Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder caused by mutations of the NF1 gene that can lead to the development of benign neurofibroma-like tumours and Malignant Peripheral Nerve Sheath Tumours (MPNST). Pulmonary Arterial Hypertension (PAH) is a rare but severe complication associated with NF1 (PAH-NF). PH-NF1 is classified as group 5 PH, defined as “PH with unclear and/or multifactorial mechanisms”, because the mechanisms of PH remain poorly understood. A better understanding of the genetic and molecular mechanisms underlying the disease may require new ways to develop specific therapies. We present the clinical outcomes of a 51-year old female previously diagnosed with NF1, who presented with progressively worsening dyspnea.
Highlights
Neurofibromatosis -1 is an autosomal dominant genetic disorder caused by mutations of the Neurofibromatosis Type 1 (NF1) gene, identified in 1990, which is located at chromosome 17q11.2 [1] and comprises 60 exons
Eco-guided biopsy allowed the diagnosis of Malignant Peripheral Nerve Sheath Tumors (MPNST), G3 according to French Federation of Cancer Centers Sarcoma Group (FFCCS), compatible with the already known basic pathology
An echocardiography showed a slight reduction of systolic function of the left ventricle with paradox movement of the interventricular septum, dilated and hypokinetic right ventricle, Actpo 65msc, severe tricuspid regurgitation (PISA radius> 0.9cm) with a right ventricular-right atrial gradient of about 80mmHg indicative of severe pulmonary hypertension (Figure 2, Panel A & B)
Summary
Neurofibromatosis -1 is an autosomal dominant genetic disorder caused by mutations of the NF1 gene, identified in 1990, which is located at chromosome 17q11.2 [1] and comprises 60 exons. Eco-guided biopsy allowed the diagnosis of Malignant Peripheral Nerve Sheath Tumors (MPNST), G3 according to FFCCS, compatible with the already known basic pathology. The inactivation of the gene can lead to the development of benign neurofibroma-like tumours and malignant peripheral nerve sheath tumours [4].
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