Turkish Journal of Pathology

Türk Patoloji Dergisi

Turkish Journal of Pathology

Turkish Journal of Pathology

2024, Vol 40, Num, 1     (Pages: 063-068)

Adult Pulmonary Blastoma: A Case Report with Spectrum of Rare Manifestations

Mayur PARKHI 1, Nishtha AHUJA 1, Divyesh KUMAR 2, Rajender Kumar BASHER 3, Navneet SINGH 4, Harkant SINGH 5, Amanjit BAL 1

1 Departments of Histopathology, Post Graduate Institute of Medical Education & Research (PGIMER), CHANDIGARH, INDIA
2 Departments of Radiotherapy and Oncology, Post Graduate Institute of Medical Education & Research (PGIMER), CHANDIGARH, INDI
3 Departments of Nuclear Medicine, Post Graduate Institute of Medical Education & Research (PGIMER), CHANDIGARH, INDIA
4 Departments of Pulmonary Medicine, Post Graduate Institute of Medical Education & Research (PGIMER), CHANDIGARH, INDIA
5 Departments of Cardiovascular and Thoracic Surgery, Post Graduate Institute of Medical Education & Research (PGIMER), CHANDIGARH, INDIA

DOI: 10.5146/tjpath.2023.01597
Viewed: 162
 - 
Downloaded : 111

Pulmonary blastoma (PB) is an exceedingly rare and aggressive malignant lung neoplasm that has distinct biphasic morphology. In this report, we document rare manifestations and molecular alterations in PB.

A 59-year-old non-smoker female, presented with cough and hemoptysis for 4 months. The high-resolution computed tomography chest scan showed a 3.5x2.7 cm mass in the basal segment of the left lung. Positron emission tomography and computed tomography revealed a fluorodeoxyglucose avid lobulated mass in the superior segment of the lower lobe of the left lung. On core biopsy, the diagnosis of pleomorphic carcinoma in a background of adenocarcinoma was made. A definite diagnosis of pulmonary blastoma was established on the left lung lobectomy specimen based on morphological and immunohistochemical findings. Post-surgical biopsy from the scalp swelling showed metastatic deposits. On Next Generation Sequencing (NGS), in addition to conventional CTNNB1 gene mutation, new pathogenic MYCN and ATM gene mutations were detected. Post-chemotherapy, the patient was doing well after 10 months of close follow-up.

PB exhibited rare associations in the form of non-smoker status, scalp metastasis, and MYCN and ATM gene mutations on NGS in addition to conventional CTNNB1 gene mutation. Large cohort studies are required to discover the incidence, significance and therapeutic implications of these co-existing pathogenic molecular alterations in PB.

Keywords : Pulmonary blastoma, Non-smoker, Immunohistochemistry, Next generation sequencing, MYCN, ATM