Pulmonary Granular Cell Tumors

Abstract

Granular cell tumors are lesions of Schwannian phenotype that most frequently arise in the skin, breast, and tongue. Pulmonary granular cell tumors (pGCTs) are exceedingly rare and only a handful of cases worldwide have been reported as malignant. We report here a series of 4 pGCTs, including an extremely rare case of a malignant pGCT which underwent next-generation sequencing to identify a novel pathogenic mutation. We are the first to report any prognostic data and response to treatment. Consistent with granular cell tumors of other primary sites, the majority of pGCTs (75%) were deemed histologically and biological benign without metastasis or recurrence after resection (mean follow-up, 750 d). pGCTs occurred predominantly in women (75%) with a mean age of 57 years (range, 49 to 66 y) and variable smoking history. Notably, 2 women also developed an associated lung carcinoma (adenocarcinoma and small cell carcinoma). We also report here an exceedingly rare case of a 51-year-old nonsmoker woman diagnosed with a malignant pGCT. She presented with a 6.4×6.1×4.4 cm infrahilar left lower lobe mass with extrinsic compression and obstruction of the left mainstem on enhanced computed tomography. Pathology of the resection specimen confirmed a pGCT composed of sheets of tumor cells with pleural, pericardial, and diaphragmatic metastases. Molecular analysis by next-generation sequencing failed to yield any driver mutations common to primary lung adenocarcinomas. Only 2 previous malignant pGCTs have been reported; our case revealed a novel pathologic ATM mutation.

Granular cell tumor of the lung and tracheobronchial tree: Two case-presentation with a review of the literature

“…Five cases were reported in the trachea. 14,22,47,57,58 Most patients in this review presented with an asymptomatic nodule or mass discovered incidentally (32, 26.7%). 8,9,45,57,58,59 Pulmonary multiple GCT was documented in nine lesions (7.5%).…”

“…8,9,45,57,58,59 Pulmonary multiple GCT was documented in nine lesions (7.5%). 14,20,26,45,56,58 The coexistence with bronchopulmonary carcinoma was noticed in 14 cases (11.6%). 25,48,56,58 Two patients had presented metastases at the moment of the diagnosis.…”

Bladder Malignant Granular Cell Tumor with EP300 Gene Mutation: A Case Report and Literature Review

“…To date, few cases of bladder malignant GCT have been reported [7] [17]. Few studies on the driving genes of malignant GCT, especially the specific driving genes of malignant GCT, are not clear [1] [18] [19]. Here, we report a case of malignant bladder GCT with vulvar, vaginal, and pelvic soft tissue invasion.…”

“…Granular cell tumor (GCT) is a benign tumor thought to originate from nerve sheath cells. It accounts for about 2% of soft tissue tumors and could occur in any part of the body [1] [2] [3] [4] [5]. The most common sites are the mouth, skin, soft tissue, breast, and female reproductive organs.…”

“…Recently, Richard Davis et al reported a case of malignant GCT of the lung with ATM gene mutation. ATM gene encodes DNA repair protein involved in cell cycle regulation[1]. Xu and colleagues apply the NGS to identify mutations in the genes of ASXL, NOTCH, and PARP pathways as potential driver mutations in pulmonary malignant GCT[23].…”