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May 18, 2026Journal of Association of Pulmonologist of Tamil Nadu0 citationsOpen Access

Neurofibromatosis Type 1 and Lung Cancer: An Unusual Clinical Encounter

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SMSonali MallikAKAmanpreet KaurPMPranita Mohanty

Key Points

  • The aim is to explore the rare connection between neurofibromatosis type 1 and lung cancer.
  • Clinical assessment of a 38-year-old male with neurofibromatosis type 1 and lung cancer symptoms.
  • Diagnostic imaging including chest X-ray and computed tomography was employed.
  • Histopathological examination confirmed lung cancer diagnosis.
  • Chest X-ray indicated right lung collapse and consolidation, minimal pleural effusion, and nodules on the left.
  • CT scan revealed a mass in the right upper lung lobe with bronchial cutoff.
  • Histopathology confirmed the presence of adenocarcinoma.

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by various clinical features including café-au-lait spots, cutaneous neurofibromas, axillary and inguinal freckling, and iris Lisch nodules. The association of lung cancer with NF1 is quite rare. Here, we discuss a case involving a 38-year-old male smoker with a previous diagnosis of NF1. He presented with a 1-year history of cough with scanty mucoid expectoration, breathlessness, and loss of appetite for 1 month. Upon investigation, the chest X-ray revealed collapse and consolidation of the right side and a minimal pleural effusion with multiple random nodules on the left side. Further imaging with a computed tomography scan of the thorax showed a mass in the right upper lobe with an abrupt cutoff of the corresponding segmental bronchi. Histopathological examination confirmed the diagnosis of adenocarcinoma lung.

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Cite This Study

Mallik et al. (2025) studied this question.

synapsesocial.com/papers/6a0aaccf5ba8ef6d83b70363https://doi.org/10.4103/japt.japt_30_24
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Molecular genetics of neurofibromatosis type 1 (NF1).1996 · 379 citations
  2. 2Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis2021 · 252 citations
  3. 3Carcinosarcoma of the lung associated with neurofibromatosis type 1: a case report2011 · 9 citations
  4. 4Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population1997 · 382 citations
  5. 5A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations1990 · 1,099 citations