Alexander Maraveyas, MBChB
Physician
Mount Sinai St Luke's & Mount Sinai Roosevelt Hospital Center
New York, New York, United States
Disclosure information not submitted.
Bruno Costa
Physician
Icahn School of Medicine at Mount Sinai (Morningside/West), United States
Disclosure information not submitted.
Paulino Tallon De Lara
Physician
Icahn School of Medicine at Mount Sinai (Morningside/West), United States
Disclosure information not submitted.
James Salonia, MD,
Assistant Professor, Division of Pulmonary and Critical Care Medicine
n/a, United States
Disclosure information not submitted.
Title: NUT Carcinoma of the Lung with Rapid Progression to Acute Hypoxemic Respiratory Failure
Case Report Body:
Introduction: NUT carcinoma is a tumor defined by translocation of the NUTM1 gene and characterized by extreme rarity and aggression: between 20-30 cases are reported per year in the United States, with a reported median survival time from diagnosis of 6.7 months. Most cases have a devastating course and poor response to chemotherapy. We present a case of pulmonary NUT carcinoma demonstrative of the rapid natural history of this formidable diagnosis.
Description: A 33-year old previously healthy non-smoker presented to clinic complaining of hemoptysis. Chest CT demonstrated a 2.7 x 2.5cm mass encasing the left lower lobe bronchus with subsequent biopsy cytopathology suggestive of poorly-differentiated squamous cell carcinoma. PET-CT staging detected diffuse skeletal metastases. The patient was commenced on carboplatin and abraxane; following NGS detection of the hallmark NUT-BRD fusion protein, pembrolizumab was added. CT images obtained four months from the diagnosis of cancer (and one month from the identification of NUT-BRD) demonstrated the mass had grown to involve the entirety of the left lower lobe and a portion of the left upper lobe. The patient continued to deteriorate: within days of intrapleural catheter placement for symptomatic relief of a malignant pleural effusion, he presented to hospital with limb weakness requiring spinal surgery for metastases refractory to radiotherapy. During hospitalization the patient was admitted to ICU twice: first for airway monitoring due to a post-obstructive pneumonia, and the second, 16 days later, for intubation and vasopressor support for acute hypoxemic respiratory failure and septic shock.
Discussion: Fewer than 50 cases of pulmonary NUT carcinoma are described in the literature despite advances in its molecular characterization. This case report contributes to our understanding of its presentation, natural history, and treatment response. Importantly, testing for NUT should be considered for poorly differentiated lung cancers lacking glandular differentiation or specific etiology, particularly in young patients and non-smokers. Finally, this patient progressed to respiratory failure despite chemotherapy and immunotherapy, highlighting the aggressive nature of this malignancy and the importance of early goals of care discussion.