Mortality associated with neurofibromatosis type 1: A study based on Italian death certificates (1995-2006)

Masocco, Maria; Kodra, Yllka; Vichi, Monica; Conti, Susanna; Kanieff, Mark; Pace, Monica; Frova, Luisa; Taruscio, Domenica

doi:10.1186/1750-1172-6-11

Cited by 48 publications

(46 citation statements)

References 29 publications

(26 reference statements)

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“…The overwhelming characteristic feature of NF1 is peripheral nerve sheath tumors (neurofibromas, malignant peripheral nerve sheath tumors [MPNST]), which form as a result of the loss of the tumor suppressor protein neurofibromin 3–6. MPNST are a major cause of reduced life expectancy in NF1 patients 5,7,8…”

Section: Neurofibromatosis (Type 1)mentioning

confidence: 99%

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Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors

Evans

Ingham²

2013

TACG

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There are several hereditary diseases that are a predisposition to early-onset tumors. These include syndromic conditions like neurofibromatosis 1 and 2, von Hippel-Lindau syndrome, Gorlin syndrome, multiple endocrine neoplasia, and familial adenomatous polyposis; and conditions which are usually not possible to diagnose clinically in a single individual, such as Lynch syndrome and BRCA1/2. Understanding of the mortality in hereditary cancer predisposing diseases is important for developing effective disease treatment programs. A number of studies have been undertaken to investigate the genetic predictors, prevalence and incidence, and treatment outcomes of these diseases; however, the majority examine only the most common of these diseases (eg, neurofibromatosis or BRCA), or look into postoperative survival. The mortality of individuals who are diagnosed with one of these hereditary diseases remains an area for investigation. This review is the first to attempt identification of studies investigating life expectancy in hereditary diseases which predispose to early-onset tumors.

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Section: Neurofibromatosis (Type 1)mentioning

confidence: 99%

“…To date, a number of studies have examined the impact of these diseases (mainly focusing on the most common of these conditions [eg, neurofibromatosis]) and postsurgical survival 1–5. The number of studies which investigate the full effect of hereditary diseases that predispose to early-onset tumors upon life expectancy remains limited.…”

Section: Introductionmentioning

confidence: 99%

Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors

Evans

Ingham²

2013

TACG

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“…Neurofibromatosis type I (NF1) or von Recklinghausen disease is an autosomal dominant disorder affecting one in 3,000 individuals [1]. Typically, the disease is diagnosed clinically during childhood, as the first sign in 80% of NF1 individuals is usually café-au-lait macules by 1 year of age.…”

Section: Discussionmentioning

confidence: 99%

“…Multiple neurofibromatosis is an autosomal dominant disorder with an incidence of approximately one in 3,000 live births [1]. The gene locus of neurofibromatosis is characteristically localized to a chromosome 17.…”

Section: Introductionmentioning

confidence: 99%

A safe method for excision of a giant neurofibroma on both buttocks using a loop-shaped suture

et al. 2011

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Neurofibromatosis(NF) is an autosomal dominant systemic disease. Up to 50% of patients with NF are reported to have concomitant vascular abnormalities. In the resection of a larger NF, the risk of uncontrolled hemorrhage is much higher due to the difficulty of hemostasis of large vessels within the tumor. We ligated the base of the giant NF with a simple loop-shaped ligation before removal of the giant NF in both buttocks, following this, we could successfully reduce the amount of hemorrhage during the operation. A 46-yearold female patient presented with giant masses of both gluteal areas, which had been growing slowly for the last 10 years. Each mass was about 35×25 cm in size. After designing the elliptical resection margin, we tightened the tumor base by using continuous loop-shaped suture ligation (weaving the thread up and down in a loop-shaped pattern, leaving a space of 2 cm between each loop) a straight needle and prolene 2-0 was used after skin incision. We proceeded with the dissection towards the central and inferior side of the mass obliquely while we avoided opening large vascular sinuses. We resected the tumor in a wedge shape. Subcutaneous tissue was sutured layer by layer, and skin was closed by vertical mattress and interrupted sutures. The loop-shaped ligation of the base was removed, and compressive dressing was done with gauze and elastic bandages. Postoperative complications such as infection, hemorrhage, hematoma, and dehiscence did not occur. Perioperatively, the patient was sufficiently transfused with only two units of blood. During the subsequent 1 year followup, the functional and cosmetic results were excellent. A continuous loop-shaped suture ligation procedure along the base of the giant NF effectively reduced the amount of hemorrhage during the operation, made dissection and ligation of vessels easy and quick, shortened the operating time and postoperative recovery time.

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“…Some cohort studies have reported a mean reduction of 8 to 15 years 4,5 while studies based on death certificates have shown a greater reduction (of about 16 to 20 years) 6,7 in life expectancy. The leading reported cause of early death in all age groups is malignant neoplasm, especially malignant peripheral nerve sheath tumor (MPNST).…”

Section: Mortality and Associated Conditionsmentioning

confidence: 99%

Neurofibromatosis: part 2 – clinical management

Batista

Goloni-Bertollo

Costa

et al. 2015

Arq. Neuro-Psiquiatr.

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Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients. Most medical doctors are able to perform NF diagnosis, but the wide range of clinical manifestations and the inability to predict the onset or severity of new features, consequences, or complications make NF management a real clinical challenge, requiring the support of different specialists for proper treatment and genetic counseling, especially in NF2 and SCH. The present text suggests guidelines for the clinical management of NF, with emphasis on NF1.Keywords: neurofibromatosis, neurofibromatosis type 1, neurofibromatosis type 2, schwannomatosis, Legius syndrome. resumo A primeira parte desta diretriz abordou o diagnóstico diferencial das neurofibromatoses (NF): neurofibromatose do tipo 1 (NF1), neurofibromatose do tipo 2 (NF2) e schwannomatose (SCH). As NF compartilham algumas características, como a origem neural dos tumores e sinais cutâneos, e afetam cerca de 80 mil brasileiros. O aumento do conhecimento científico sobre as NF tem permitido melhor manejo clínico e redução da morbidade das complicações, resultando em melhor qualidade de vida para os pacientes com NF. A maioria dos médicos é capaz de realizar o diagnóstico das NF, mas a variedade de manifestações clínicas e a dificuldade de se prever o surgimento e a gravidade de complicações, torna o manejo da NF um desafio para o clínico e envolve diferentes especialistas para o tratamento adequado e aconselhamento genético, especialmente a NF2 e a SCH. O presente texto sugere algumas orientações para o acompanhamento dos portadores de NF, com ênfase na NF1.Palavras-chave: neurofibromatoses, neurofibromatose 1, neurofibromatose 2, schwannomatose, síndrome de Legius. 532Arq Neuropsiquiatr 2015;73(6): [531][532][533][534][535][536][537][538][539][540][541][542][543] Part 1 of this guideline addressed differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH) 1 . This second part aims to offer some practical suggestions on the clinical management of NF.NF shares some features, such as the genetic origin of the neural tumors, cutaneous manifestations, heterogeneous phenotype and unpredictable and usually progressive natural course. However, they differ in age of onset, progression of the symptoms and prognosis. Moreover, NF clinical presentation and severity vary among patients and even between twins carrying the same NF gene mutation 2 . The wide range of NF clinical manifestations and the difficulties to predict the onset or the severity of new features, consequences, o...

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Mortality associated with neurofibromatosis type 1: A study based on Italian death certificates (1995-2006)

Cited by 48 publications

References 29 publications

Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors

Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors

A safe method for excision of a giant neurofibroma on both buttocks using a loop-shaped suture

Neurofibromatosis: part 2 – clinical management

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