Clinical, Radiologic, and Pathologic Characteristics of Pulmonary Hamartomas With Uncommon Presentation

Abstract

Objectives To investigate the clinicopathologic and radiologic features of pulmonary hamartomas (PHs) with uncommon clinical presentation. Methods A retrospective clinicopathologic and radiologic review was performed for patients diagnosed (1999-2019) with multiple hamartomas, lesions arising adjacent to a coexisting pulmonary malignancy, and tumors with predominantly extrapulmonary localization. Results Of 979 patients diagnosed with PHs, 6 (0.6%) had multiple hamartomas, 4 (0.4%) had hamartomas adjacent to lung adenocarcinoma, and 2 (0.2%) had large mediastinal masses. Patients with multiple lesions had a median age of 65 years and mean tumor size of 0.9 cm; 1 patient had 3 hamartomas, and 5 patients had 2. Lesions next to adenocarcinomas had a mean size of 1.4 cm, and affected patients had a median age of 69 years. Predominantly mediastinal PHs, diagnosed in a 63-year-old woman and a 68-year-old man, measured 4.1 to 6 cm and were connected to the lung. All lesions were solid on imaging with absence of definitive fat or calcification, concerning for granuloma or malignancy. All cases had typical histology of PH, although one of the mediastinal tumors had an unusual amount of epithelial hyperplasia. Conclusions PHs can be clinically and radiologically challenging to diagnose. Histopathologic examination of biopsies and resection specimens is diagnostically crucial in this setting.

Computed Tomography and PET/CT Features Of Pulmonary Hamartomas

“…3 Although it can be seen in all age groups, most of them are detected in sixth or seventh decades of life. 4 Consistent with previous studies, the mean age was 53.0 ± 11.45 in our study. Previous studies suggested a 1.6-4 fold male predominance of pulmonary hamartoma.…”

Pulmonary Hamartomas: A Single-Center Analysis of 59 Cases

“…Endobronchial hamartomas account for only 1-19.5% of cases. 8 - 10 In our study, hamartomas were localized in the parenchyma in all cases, and no endobronchial localization was observed.…”

“…The main problem in asymptomatic patients is the difficulty in distinguishing pulmonary hamartoma from lung cancer. 10 , 11 In our series, 37.3% of the cases were asymptomatic in terms of the respiratory system, 27.1% of the cases had dyspnea, 23.7% had chest pain, and 20.3% had a cough. However, these findings are thought to be due to other possible pulmonary causes and not hamartoma.…”

The clinicopathological challenges of symptomatic and incidental pulmonary hamartomas diagnosis

“…PHs arise from the primitive mesenchymal tissue of the bronchial wall that can differentiate into variable mature mesenchymal tissues [ 12 ]. Cytogenetic analyses have revealed genetic aberrations of high mobility proteins, in chromosomal bands 6p21 or 12q14-15, or rarely in both bands, in PH patients [ 4 , 13 ]. In this regard, a specific translocation, t(6;14)(p21;q24), was detected in most PHs, leading to a partial fusion between the high mobility group AT-hook 1 (HMGA1) gene and RecA-like protein L (RAD51L), a gene encoding a protein kinase with a relevant role in the repair process.…”

“…In this regard, a specific translocation, t(6;14)(p21;q24), was detected in most PHs, leading to a partial fusion between the high mobility group AT-hook 1 (HMGA1) gene and RecA-like protein L (RAD51L), a gene encoding a protein kinase with a relevant role in the repair process. Additionally, the rearrangement of 12q14-q15, involving the high mobility group AT-hook 2 (HMGA2) gene, can be detected in approximately 80% of patients [ 13 , 14 ]. Recent data are suggesting that there is an association between PHs and lung or other extrapulmonary neoplasms [ 12 , 15 ].…”