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DOI: 10.5146/tjpath.2023.01597 |
Adult Pulmonary Blastoma: A Case Report with Spectrum of Rare Manifestations |
Mayur PARKHI1, Nishtha AHUJA1, Divyesh KUMAR2, Rajender Kumar BASHER3, Navneet SINGH4, Harkant SINGH5, Amanjit BAL1 |
1Departments of Histopathology, Post Graduate Institute of Medical Education & Research (PGIMER), CHANDIGARH, INDIA
2Departments of Radiotherapy and Oncology, Post Graduate Institute of Medical Education & Research (PGIMER), CHANDIGARH, INDI
3Departments of Nuclear Medicine, Post Graduate Institute of Medical Education & Research (PGIMER), CHANDIGARH, INDIA
4Departments of Pulmonary Medicine, Post Graduate Institute of Medical Education & Research (PGIMER), CHANDIGARH, INDIA
5Departments of Cardiovascular and Thoracic Surgery, Post Graduate Institute of Medical Education & Research (PGIMER), CHANDIGARH, INDIA |
Keywords:
Pulmonary blastoma, Non-smoker, Immunohistochemistry, Next generation sequencing, MYCN, ATM |
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.
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