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Prolonged response to checkpoint inhibitor therapy in two metastatic mucoepidermoid salivary gland carcinoma cases: a research report.

ABSTRACT: Salivary gland tumors (SGTs) are heterogeneous tumors that range from benign masses to aggressive high-grade carcinomas with distant metastatic potential and limited response to chemotherapy. Mucoepidermoid carcinoma (MEC) accounts for 10% of SGTs and has a poor prognosis. In this research report, we describe two cases of metastatic high-grade MECs with prolonged response to immune checkpoint inhibitor pembrolizumab. Case 1 presented with a left neck mass, and biopsy of the parotid mass revealed MEC. The patient underwent surgical resection and adjuvant chemoradiation therapy for stage IVB disease. Post-treatment, she was found to have brain and spinal metastases and was placed on pembrolizumab. Case 2 presented with a left neck mass, and biopsy of the right parotid gland revealed MEC. Further staging demonstrated metastatic disease in the lungs, and he was placed on pembrolizumab. Both cases of MEC demonstrated prolonged extracranial responses to pembrolizumab. Although both cases reported little to no PD-L1 expression, these results demonstrate immunotherapy efficacy in advanced/metastatic MEC.

SUBMITTER: Pharaon RR

PROVIDER: S-EPMC9059780 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature

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Prolonged response to checkpoint inhibitor therapy in two metastatic mucoepidermoid salivary gland carcinoma cases: a research report.

Pharaon Rebecca R RR Gernon Thomas T Chang Sue S Vora Nayana N Villaflor Victoria M VM Bell Diana D Afkhami Michelle M Amini Arya A Sampath Sagus S Kang Robert R Maghami Ellie G EG Massarelli Erminia E

Cold Spring Harbor molecular case studies 20220428 3

Salivary gland tumors (SGTs) are heterogeneous tumors that range from benign masses to aggressive high-grade carcinomas with distant metastatic potential and limited response to chemotherapy. Mucoepidermoid carcinoma (MEC) accounts for 10% of SGTs and has a poor prognosis. In this research report, we describe two cases of metastatic high-grade MECs with prolonged response to immune checkpoint inhibitor pembrolizumab. Case 1 presented with a left neck mass, and biopsy of the parotid mass revealed ...[more]

PMID: 35483880

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Project description:BackgroundSecretory carcinoma of the salivary gland (SCSG) is a recently discovered salivary gland tumor that occurs mostly in the major salivary glands and occasionally in the skin, cervix, trachea, etc. Secretory carcinoma of the lung is extremely rare. To our knowledge, this is the third report of SCSG arising as a primary pulmonary tumor. The two SCSG cases reported in this paper are unique in that one was primary and the other was metastasized to the lung.Case descriptionCase 1 is a primary endobronchial tumor in a 66-year-old man. He went to the doctor complaining of fever, cough and yellow phlegm, and his body weight was significantly reduced by 3 kg. The bronchoscope showed the growth of new organisms in the right upper lobe of the lung. Immunohistochemistry of his biopsy specimen was positive for AE1/AE3, Keratin7 (CK7), S-100, mammaglobin, and pan-TRK, but negative for thyroid transcription factor-1 (TTF-1), napsin-A, synaptophysin (SYN), chromogranin A (CGA), and discovered on GIST-1 (Dog-1), and the MKI-67 (Ki-67) proliferation index was 2%. This case lacked the typical ETV-6 gene rearrangement. After one cycle of chemotherapy, the tumor was significantly reduced, and surgical excision was planned. Case 2 was a metastatic secretory carcinoma with a history of parotid pleomorphic adenoma resection 30 years ago and malignant pleomorphic adenoma resection 16 years ago before the study, respectively. He presented with a complaint of a parotid gland mass. Chest CT examination revealed a mass in the upper lobe of the left lung. The biopsy tissue of him exhibited a typical histological appearance under the microscope. Immunohistochemistry was positive for AE1/AE3, CK7, S-100, and mammaglobin; partially positive for estrogen receptor (ER) and pan-TRK; and negative for TTF-1, Napsin-A, SYN, CGA, P63, P40, and Dog-1. The Ki-67 proliferation index was approximately 3%. Fluorescence in situ hybridization (FISH) revealed ETV-6 gene rearrangement. After the diagnosis of SCSG, the patient underwent resection of the lung mass, and there was no recurrence of the lung after 1 month's follow-up.ConclusionsBy examining these two cases, we have a better understanding of the clinicopathological features of secretory carcinoma, which will help to improve the accuracy of pathological diagnosis.

Project description:Restricted availability of cell and animal models is a rate-limiting step for investigation of salivary gland neoplasm pathophysiology and therapeutic response. Conditionally reprogrammed cell (CRC) technology enables establishment of primary epithelial cell cultures from patient material. This study tested a translational workflow for acquisition, expansion and testing of CRC-derived primary cultures of salivary gland neoplasms from patients presenting to an academic surgical practice. Results showed that cultured cells were sufficient for epithelial cell-specific transcriptome characterization to detect candidate therapeutic pathways and fusion genes, and for screening for cancer risk-associated single nucleotide polymorphisms (SNPs) and driver gene mutations through exome sequencing. Focused study of primary cultures of a low-grade mucoepidermoid carcinoma demonstrated amphiregulin-mechanistic target of rapamycin-protein kinase B (AKT; AKT1) pathway activation, identified through bioinformatics and subsequently confirmed as present in primary tissue and preserved through different secondary 2D and 3D culture media and xenografts. Candidate therapeutic testing showed that the allosteric AKT inhibitor MK2206 reproducibly inhibited cell survival across different culture formats. By contrast, the cells appeared resistant to the adenosine triphosphate competitive AKT inhibitor GSK690693. Procedures employed here illustrate an approach for reproducibly obtaining material for pathophysiological studies of salivary gland neoplasms, and other less common epithelial cancer types, that can be executed without compromising pathological examination of patient specimens. The approach permits combined genetic and cell-based physiological and therapeutic investigations in addition to more traditional pathologic studies, and can be used to build sustainable bio-banks for future inquiries.This article has an associated First Person interview with the first author of the paper.

Project description:To analyze the patterns of failure and factors affecting recurrence and overall survival in mucoepidermoid carcinoma of the salivary gland. The hospital records were retrospectively analyzed from October 2010 to January 2016. Patients diagnosed as mucoepidermoid carcinoma of the salivary gland were eligible for analysis. All patients received surgery as the primary treatment modality with or without post operative radiotherapy. Statistical analysis for factors affecting recurrence was done by cox regression analysis and p value less than 0.05 was considered significant. A total of 116 patients were diagnosed to have malignant salivary gland tumors of which 69 were mucoepidermoid carcinomas (69.5%). The median age was 43 years (8-75 years). Majority of the tumors occurred in major salivary glands gland (77%). 51% patients were females. Most common stage was stage II (36%) followed by stage I (27.5%), stage IV (20.3%) and stage III (16%). High grade carcinomas comprised 34.8%, intermediate grade 30.4% and low grade 34.8%. 36 patients (52.2%) received adjuvant radiotherapy (60 Gy in 30 fractions). At a median follow up of 42 months (8-70 months), 8 (11.6%) patients died (7 cancer related and 1 noncancer related). The locoregional recurrence rate was 4.3% whereas the distant metastasis rate was 11.6%. Most common site of distant metastasis was lung. The mean disease free survival time was 61.4 months and the mean overall survival was 62 months. On univariate analysis, age < 50 years, node positive, presence of PNI, high grade, presence of LVI and local recurrence were significant factors for distant metastasis (p < 0.05). On multivariate analysis, high grade, presence of LVI and local recurrence were significant factors for distant metastasis (p < 0.05). Mucoepidermoid carcinomas of salivary gland have good long term local control and overall survival. Majority of the recurrences are distant metastasis. High grade, LVI and local recurrence are significant risk factors for distant relapse.

Project description:BackgroundSalivary gland-like tumors are extremely unusual in the breast, and their histology is very similar to primary salivary gland neoplasms. Mucoepidermoid carcinoma (MEC), a common salivary gland tumor, displays an infrequent occurrence in the breast, accounting for a mere 0.2-0.3% incidence. Given its rarity, it is critical to accurately distinguish it from metastatic cases before diagnosing it as a primary breast MEC for appropriate treatment. Currently, there is no consensus on the treatment of MEC, and there is a paucity of literature highlighting the ideal treatment modality, especially for estrogen receptor (ER)-positive cancers. Therefore, the aim of our case report was to underscore the diagnostic process, surgical and adjunctive treatments for our patient with ER-positive, progesterone receptor (PR)-negative and human epidermal growth factor receptor 2 (HER2)-negative MEC while also conducting a literature review to contribute to the limited existing data.Case descriptionA 67-year-old African American woman presented with a lobulated 3.1-cm left breast mass on mammography, for which she underwent ultrasound-guided core needle biopsy that revealed invasive carcinoma with squamous differentiation. The carcinoma was ER-positive, PR-negative and HER2-negative. Subsequently, she underwent a lumpectomy with sentinel lymph node biopsy. Her final pathology revealed an intermediate-grade MEC with negative lymph nodes. She had a past medical history of benign salivary gland tumor, as well as a family history of BReast CAncer gene 1 (BRCA1)-associated breast cancer in her daughter.ConclusionsMEC of the breast is a rare tumor with a relatively favorable overall prognosis. The early and precise diagnosis of this condition plays a pivotal role in formulating effective treatment strategies and ensuring positive survival rates. Nonetheless, future studies are recommended to further explore the role of surgical approaches and adjuvant therapy to improve treatment outcomes.

Dataset Information

Prolonged response to checkpoint inhibitor therapy in two metastatic mucoepidermoid salivary gland carcinoma cases: a research report.

Publications

Prolonged response to checkpoint inhibitor therapy in two metastatic mucoepidermoid salivary gland carcinoma cases: a research report.

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