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Finding the Unexpected: Pulmonary Sclerosing Pneumocytoma in a Pediatric Patient

Finding the Unexpected: Pulmonary Sclerosing Pneumocytoma in a Pediatric Patient 1024 575 Pam Georgiana

A case study demonstrates the need for a structured evaluation and consideration of genetic risk factors in rare pediatric tumors.

Primary lung tumors in children are rare and present diagnostic uncertainty. A recent case study published in Pediatric Pulmonology highlights the evaluation and management of an unusual benign lung nodule in a school-age child. This unique case demonstrates the importance of systematic investigation and multidisciplinary care.

Eric S. Mull, DO, pulmonologist and member of the Aerodigestive Team in Pulmonary Medicine in the Department of Pediatrics at Nationwide Children’s Hospital, and colleagues report the case of an otherwise healthy 8-year-old boy who presented with cough and fever for approximately one month. Initial testing identified a viral respiratory infection. However, a chest X-ray also revealed a well-defined circular nodule in the right middle lobe. A follow-up CT scan confirmed a 16 millimeter nodule extending from the lung tissue to the lining around the lung. There were no enlarged lymph nodes.

Although pulmonary nodules in children are often associated with infection, the lesion’s size prompted further evaluation.

Studio portrait of Eric Mull, MD, wearing a lavender shirt and purple checked tie.

Eric Mull, MD

“Guidelines from both the American Thoracic Society and American College of Chest Physicians (CHEST) recommend that we investigate any nodule larger than 8 millimeters, regardless of presumed benignity,” says Dr. Mull. “In this case, the imaging findings warranted a comprehensive diagnostic workup.”

Doctors conducted lab tests for inflammation, infection and cancer markers. All were normal except for one test, suggesting possible recent histoplasmosis, which later tested negative.

Because the cause of the nodule remained unclear, the team proceeded with CT-guided needle biopsy. Tissue analysis revealed the characteristic features of pulmonary sclerosing pneumocytoma (PSP). This included small spaces lined by lung-type epithelial cells and two distinct cell populations that tested positive for markers found in lung tissue.

PSP is a rare benign lung tumor typically reported in middle-aged Asian women. Its occurrence in a pediatric male patient is a notable deviation from the usual demographic profile.

“We were not expecting to identify a condition usually seen in a completely different patient population,” Dr. Mull explains. “The biopsy illustrates the importance of maintaining a broad differential diagnosis, particularly when imaging findings are atypical.”

The lesion was successfully removed via video-assisted thoracoscopic surgery with negative margins. Given emerging evidence linking PSP to alterations in the AKT1 pathway, genetic testing was performed. Analysis identified a somatic AKT1 variant within the tumor, and blood testing revealed a pathogenic BRCA1 variant. A family history of tumor-related genetic abnormalities further supported the need for genetic counseling and long-term surveillance.

“Evaluating underlying genetic factors in rare medical cases is essential because the findings can inform both patient management and family counseling,” says Dr. Mull. “Although the patient is otherwise healthy, his genetic profile may have implications for future risk.”

The patient and family were referred to oncology genetics specialists to determine appropriate monitoring strategies. Notably, the pulmonary nodule itself was asymptomatic and unrelated to the child’s viral illness.

The authors also note evolving management considerations. While surgery is often recommended for larger lesions in younger patients, clinical observation may be appropriate in selected cases when nodules are stable and asymptomatic.

“For clinicians, this case reinforces several key principles,” Dr. Mull adds. “Pulmonary nodules larger than 8 millimeters require structured evaluation and tissue diagnosis may be necessary when noninvasive testing is inconclusive. Lastly, genetic assessment can provide important insight into long-term risk.”

Dr. Mull reports that a second pediatric PSP case has since been identified at Nationwide Children’s. This raises questions about whether the condition may be underrecognized in children.

“As imaging technologies continue to improve, awareness of rare benign pulmonary tumors will be essential to optimize pediatric care,” Dr. Mull concludes.

 

Reference:

Mull ES, Gaudio R, Adler B, Carrillo SA, Honegger JR, Supinger R, Arva NC, Conces M, Babcock M, Fagan N, Paul GR. Breaking the Mold! A Rare Lung Neoplasm in Childhood. Pediatric Pulmonology. 2025 Nov;60(11):e71385.

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About the author

Pam Georgiana is a brand marketing professional and writer located in Bexley, Ohio. She believes that words bind us together as humans and that the best stories remind us of our humanity. She specialized in telling engaging stories for healthcare, B2B services, and nonprofits using classic storytelling techniques. Pam has earned an MBA in Marketing from Capital University in Columbus, Ohio.

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