Lung cancer and parenchymal lung disease in a patient with neurofibromatosis type 1

Melo, Alessandro Severo Alves de; Alves, Sérgio Ferreira; Antunes, Paulo de Moraes; Zanetti, Gláucia; Marchiori, Edson

doi:10.1590/1806-3713/e20180285

Cited by 4 publications

(6 citation statements)

References 4 publications

(11 reference statements)

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“…NF1 increases the sensitivity of the lungs to cigarette smoking which in turn increases the risk of interstitial lung disease which further raises risk of cancer development [ 5 ]. However, the association of lung cancers with NF1 is uncommon and rarely reported in the medical literature [ 6 ].…”

Section: Discussionmentioning

confidence: 99%

“…To explain the link between NF1 and lung cancer, two basic hypotheses have been proposed. The first hypothesis is that since NF1 is a potential risk in the occurrence of interstitial lung diseases, the scars or bullae secondary to the latter can give way to the development of tumors [ 6 , 7 ]. The second hypothesis is the inactivation of the p53 tumor suppressor gene secondary to the deletion of chromosome 17p.…”

Section: Discussionmentioning

confidence: 99%

“…The second hypothesis is the inactivation of the p53 tumor suppressor gene secondary to the deletion of chromosome 17p. Inactivation of p53 has been linked to the development of small-cell lung cancer in individuals with NF1 as well as the p53 mutation was detected in half of the patients with non-small-cell lung cancer [ 6 ]. This underscores that NF1 is a potential risk factor for lung cancer in non-smoking patients.…”

Section: Discussionmentioning

confidence: 99%

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A Rare Case of Neuroendocrine Tumor in a Patient With Neurofibromatosis Type 1: Is There Any Association?

Baddi¹,

Ahsayen²,

Ramdani³

et al. 2022

Cureus

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Neurofibromatosis type 1 (NF1) is an autosomal dominant condition characterized by café-au-lait spots, cutaneous neurofibromas, axillary and inguinal freckling, and iris Lisch nodules; however, the presentations vary greatly, even within families. NF1 is also a recognized risk factor for the development of malignancy particularly malignant peripheral nerve sheath tumors (MPNST), optic gliomas, other gliomas, and leukemia. Nevertheless, the occurrence of lung cancer in a patient with neurofibromatosis type 1 is a rare phenomenon.Here we present a case of neuroendocrine tumor in a patient with neurofibromatosis type 1, highlighting the association between the two diseases. This case report also aimed to raise awareness of possible malignancies in patients with neurofibromatosis type 1.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

A Rare Case of Neuroendocrine Tumor in a Patient With Neurofibromatosis Type 1: Is There Any Association?

Baddi¹,

Ahsayen²,

Ramdani³

et al. 2022

Cureus

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“…There are studies linking adenocarcinoma of the lung to NF-DLD. Still, there is a paucity of cases in the literature, and further studies are required to establish the relationship between the two [15].…”

Section: Complicationsmentioning

confidence: 99%

Neurofibromatosis-Associated Diffuse Lung Disease: A Case Report and Review of the Literature

Dehal¹,

Gastelum²,

Millner³

2020

Cureus

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“…In the chest, NF1 has a variety of manifestations, including intrathoracic neurogenic tumors, meningoceles, kyphoscoliosis, rib deformities, cutaneous/subcutaneous neurofibromas of the chest wall, bullous lung disease, and interstitial lung disease ( 1 , 6 - 8 ) . Although cases of neurofibromatosis-associated diffuse lung disease (NF-DLD) have been reported, little is known about its severity, overall prevalence, and clinical characteristics ( 6 , 9 , 10 ) .…”

Section: Introductionmentioning

confidence: 99%

Neurofibromatosis type 1: evaluation by chest computed tomography

et al. 2021

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Objective: The aim of this study was to evaluate chest computed tomography (CT) findings in patients diagnosed with neurofibromatosis type 1 (NF1). Material and Methods: This was a retrospective study in which we reviewed the chest CT scans of 14 patients diagnosed with NF1 and neurofibromatosis-associated diffuse lung disease (NF-DLD). The sample comprised eight women and six men. The median age was 55 years (range, 11-75 years). The diagnosis of NF1 was made on the basis of the diagnostic criteria established by the U.S. National Institutes of Health. The images were analyzed by two chest radiologists, who reached decisions by consensus. Results: The predominant CT finding of NF-DLD was multiple cysts, which were observed in 13 patients (92.9%), followed by emphysema, in eight (57.1%) and subpleural bullae, in six (42.9%). Other findings included subcutaneous neurofibromas, in 12 patients (85.7%), ground-glass opacities, in one (7.1%), and tracheobronchial neurofibromas, in one (7.1%). The pulmonary abnormalities were bilateral in 12 cases (85.7%). The abnormalities were predominantly in the upper lung fields in eight cases (57.1%), and their distribution was random in 11 (78.6%). Conclusion: Pulmonary cysts, emphysema, and subpleural bullae appear to be the chest CT findings that are most characteristic of NF-DLD.

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Lung cancer and parenchymal lung disease in a patient with neurofibromatosis type 1

Cited by 4 publications

References 4 publications

A Rare Case of Neuroendocrine Tumor in a Patient With Neurofibromatosis Type 1: Is There Any Association?

A Rare Case of Neuroendocrine Tumor in a Patient With Neurofibromatosis Type 1: Is There Any Association?

Neurofibromatosis-Associated Diffuse Lung Disease: A Case Report and Review of the Literature

Neurofibromatosis type 1: evaluation by chest computed tomography

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