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NUT midline carcinoma: report of 2 cases suggestive of pulmonary origin
Mio Tanaka1, Keisuke Kato, Kiyoshi Gomi
1Kanagawa Children's Medical Center, Division of Pathology, Yokohama, Japan. mio@zc4.so-net.ne.jp
Insights
This study details two pediatric cases of NUT midline carcinoma (NMC) originating in the lungs. Both young patients experienced severe symptoms and succumbed to the aggressive cancer despite intensive treatment.
Area of Science:
- Oncology
- Pediatric Pathology
- Molecular Diagnostics
Background:
- Nuclear protein of the testis (NUT) midline carcinoma (NMC) is a rare and aggressive malignancy.
- Pulmonary origin of NMC is uncommon, particularly in pediatric cases.
- Early diagnosis and effective treatment strategies for pediatric NMC remain challenging.
Observation:
- Two pediatric patients, a 14-year-old boy and a 7-year-old girl, presented with symptoms suggestive of pulmonary NMC.
- Both patients exhibited prolonged cough and chest pain; the girl also had bone metastases.
- Imaging revealed hilar tumors, and biopsies showed undifferentiated or combined undifferentiated and squamous cell carcinoma.
Findings:
- Genetic analysis confirmed the presence of the NUT midline carcinoma (NMC) diagnosis through the detection of a NUT gene rearrangement (BRD4-NUT fusion).
- Tumor cells expressed p63 and NUT, with variable cytokeratin and thyroid transcription factor-1 expression.
- Histological examination suggested a basal cell origin from bronchiolar epithelia in one case.
Implications:
- This report highlights the occurrence of pulmonary NUT midline carcinoma (NMC) in pediatric patients.
- The aggressive nature of these tumors underscores the need for improved diagnostic and therapeutic approaches.
- Understanding the cellular origin may aid in developing targeted therapies for pediatric lung cancers.
Abstract:
In this study, we report 2 pediatric cases of nuclear protein of the testis (NUT) midline carcinoma (NMC) suggestive of pulmonary origin: case 1 was a 14-year-old Japanese boy and case 2 was a 7-year-old Japanese girl. Initial symptoms of both cases were prolonged cough and chest pain, and the case 2 patient also complained of lumbago and lumbar mass due to bone metastases. Imaging studies revealed that pulmonary tumors from both patients were located at the hilar region of the lower lobe. Biopsies of the tumors showed undifferentiated carcinoma in case 1 and combined undifferentiated and squamous cell carcinoma in case 2. Despite intensive treatment with chemotherapy and radiation, progression of neither tumor was controlled, and both patients died of the tumors at 1 year (case 1) and 4 months (case 2) after onset of disease. Both tumors were diffusely positive for p63 and NUT expression and were partially positive for various cytokeratins. Reverse transcription polymerase chain reaction analysis and subsequent direct sequencing revealed that the bromodomain-containing protein 4-NUT chimeric gene was present in tumor tissue of both patients, leading to a diagnosis of NMC. The tumor cells of case 1 were also positive for thyroid transcription factor-1 expression, but those of case 2 were negative. Histologic examination of the surgically removed lung tumor of case 1 indicated that the origin of the tumor was basal cells of the bronchiolar epithelia.