Synchronous neuroendocrine tumor and non‐small‐cell lung cancer in neurofibromatosis type 1

Hsu, Andrew; Han, Samuel

doi:10.1002/ccr3.416

Cited by 5 publications

(12 citation statements)

References 19 publications

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“…Neurofibromatosis type 1 increases the risk of cancerous transformation, especially nervous system tumours. Furthermore interstitial lung diseases, lung cancer, pulmonary hypertension and gastrointestinal tract neoplasms might occurusually in the adulthood [2,3].…”

Section: Discussionmentioning

confidence: 99%

Course of neurofibromatosis type 1 diagnosed in adult woman

Gawlewicz‐Mroczka¹,

Cempa²,

Zygulska³

et al. 2017

Birth Defect

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Neurofibromatosis type 1 (NF1, von Recklinghausen's disease) is one of phacomatoses -genetic disorders triggered by a mutation of a gene. In case of von Recklinghausen's disease the mutation has been recognized as the loss of function mutation of NF1 gene, that results in lack of neurofibromin. The disorder is usually diagnosed in early childhood since some of the symptoms are present in infants or even newborns. In some cases however, the symptoms appear in adulthood only when they might cause diagnostic problems. We present a study of a 32-year old female patient admitted to Pulmonology Department due to a found round mass in her left lung. Further diagnostics revealed other abnormalities and combined with the patient's physical findings the diagnosis of neurofibromatosis type 1 was made. This study presents further medical history of the given patient.

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Section: Discussionmentioning

confidence: 99%

Course of neurofibromatosis type 1 diagnosed in adult woman

Gawlewicz‐Mroczka¹,

Cempa²,

Zygulska³

et al. 2017

Birth Defect

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“…Therefore, in addition to being a risk factor for lung cancer, smoking is a potential risk factor for interstitial lung disease in NF1 patients. 1 , 2 Although NF1 is the most common inherited syndrome predisposing to neoplasia, particularly neural crest-derived tumors, it is not commonly reported in association with lung cancer. 3 …”

Section: To the Editormentioning

confidence: 99%

“…Two major hypotheses have been proposed to explain the association between NF1 and lung cancer. 1 One hypothesis is related to the development of tumors from previous scar tissue or bullae secondary to interstitial fibrosis. 1 The other hypothesis is related to chromosome 17p deletions, the prevalence of which is increased in certain NF1 patients.…”

Section: To the Editormentioning

confidence: 99%

“… 1 One hypothesis is related to the development of tumors from previous scar tissue or bullae secondary to interstitial fibrosis. 1 The other hypothesis is related to chromosome 17p deletions, the prevalence of which is increased in certain NF1 patients. 1 , 4 It should be noted that the p53 tumor suppressor gene is located on the short arm of chromosome 17.…”

Section: To the Editormentioning

confidence: 99%

“… 1 The other hypothesis is related to chromosome 17p deletions, the prevalence of which is increased in certain NF1 patients. 1 , 4 It should be noted that the p53 tumor suppressor gene is located on the short arm of chromosome 17. 1 , 4 Inactivation of p53 has been implicated in the development of small cell lung cancer in patients with NF1, and p53 mutations have been found in approximately 50% of patients with non-small cell lung cancer.…”

Section: To the Editormentioning

confidence: 99%

See 2 more Smart Citations

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

et al. 2019

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Neurofibromatosis type 1: State-of-the-art review with emphasis on pulmonary involvement

Júnior

Zanetti

Melo

et al. 2019

Respiratory Medicine

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Neurofibromatosis type 1 (NF-1), also known as von Recklinghausen's disease, is an autosomal dominant dysplasia of the ectoderm and mesoderm with a variable clinical expression, but near-complete penetrance before the age of 5 years. The estimated incidence is 1 in 3000 births. NF-1 is characterized by collections of neurofibromas, café-au-lait spots, axillary and inguinal freckling, and pigmented hamartomas in the iris (Lisch nodules). Pulmonary manifestations of NF-1, which usually include bilateral basal reticulations and apical bullae and cysts, are reported in 10-20% of adult patients. Clinically, neurofibromatosis-associated diffuse lung disease (NF-DLD) usually presents with nonspecific respiratory symptoms, including dyspnea on exertion, shortness of breath, and chronic cough or chest pain, at the time of diagnosis. Computed tomography (CT) is highly accurate for the identification and characterization of NF-DLD; it is the most reliable method for the diagnosis of this lung involvement. Various CT findings of NF-DLD, including cysts, bullae, ground-glass opacities, bibasilar reticular opacities, and emphysema, have been described in patients with NF-1. The typical CT pattern, however, is characterized by upper-lobe cystic and bullous disease, and basilar interstitial lung disease. Currently, the goal of NF-DLD treatment is the earliest possible diagnosis, focusing on symptom relief and interventions that positively alter the course of the disease, such as smoking cessation. The aim of this review is to describe the main clinical, pathological, and imaging aspects of NF-1, with a focus on pulmonary involvement.

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Synchronous neuroendocrine tumor and non‐small‐cell lung cancer in neurofibromatosis type 1

Cited by 5 publications

References 19 publications

Course of neurofibromatosis type 1 diagnosed in adult woman

Course of neurofibromatosis type 1 diagnosed in adult woman

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

Neurofibromatosis type 1: State-of-the-art review with emphasis on pulmonary involvement

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