Laryngeal Paraganglioma with Chronic Cough: A Case Report

Laryngeal paragangliomas are rare lesions originating from paraganglion cells within the supraglottis or subglottis. As per the latest review, only 76 such cases have been reported in the literature. Symptoms typically include dysphonia or dysphagia. We present, to the best of our knowledge, the first known case of laryngeal paraganglioma with chronic cough as the primary complaint. A 77-year-old male presented with chronic cough. Flexible laryngoscopy revealed a supraglottic submucosal mass emanating from the region of the right false vocal cord and aryepiglottic fold. Postcontrast computed tomography scan showed a well-defined intensely enhancing mass arising from the right paraglottic space and bulging into the right pyriform sinus. Biopsies and immunohistochemical markers supported the diagnosis of paraganglioma. A complete submucosal excision of the mass via a right transcervical approach with tracheostomy was performed. Postoperatively, the patient’s cough resolved. Laryngeal paragangliomas are rare tumors that are known to present with dysphonia or dysphagia. This is the first case report of a patient presenting with chronic cough as the primary complaint

Large Parotid Gland Lipoblastoma in a Teenager

BackgroundLipoblastomas are rare benign neoplasms that arise from fetal white fat cells. They are typically found in children under the age of 3 and have been reported in the mediastinum, extremities, and infrequently in the head and neck. We present a rare case of a lipoblastoma arising from the parotid gland and the first known report of a parotid lipoblastoma in a teenager.Case presentationA 15-year-old male presented with a painless, slowly enlarging parotid mass and left facial swelling. A fine needle aspiration was non-diagnostic and initial MRI showed a 3.8 cm × 5.0 cm × 4.0 cm fatty lesion involving the superficial and deep lobes of the left parotid gland and masticator space with widening of the stylo-mandibular tunnel and thinning of the adjacent mandibular condyle. The patient was taken to the operating room, and the mass was excised under general anesthesia via a transcervical parotid approach with facial nerve monitoring. The most superficial aspect of the parotid bed was spared and with upper and lower divisions of the facial nerve preserved. The tumor, which primarily involved the deep lobe of the parotid, was entirely excised. Final pathology revealed a 5.2 cm lipoblastoma. The patient did well post-operatively with full function of the facial nerve and 20 months of follow up without evidence of recurrence.ConclusionThis is the first reported case of a lipoblastoma of the parotid gland in a teenager. Although a rare tumor, it should be considered in the differential diagnosis of a parotid mass in this population

Hypofractionated radiation in secretory breast cancer: A case report

Secretory carcinoma is a rare and indolent breast cancer with a lack of established treatment paradigms. We describe a case of a woman who underwent breast conservative therapy in the modern era. A 48 year old woman with a screen-detected left breast cancer was found to have early-stage secretory carcinoma after definitive breast conservation surgery. Further management with adjuvant radiation was recommended. After definitive breast conservative surgery, final pathology was notable for secretory breast carcinoma due to the immunohistologic characteristics of the tumor, ETV6-NTRK3 gene fusion, and histologic findings. After multi-disciplinary discussion, it was recommended that the patient proceed with adjuvant radiation. She was treated using a modestly hypofractionated regimen of 4256 cGy in 16 fractions. She tolerated the treatment well, developing only grade 1 radiation dermatitis. At 1 year follow-up she was clinically and radiographically free of disease. With a shift in management toward breast conservative therapy, defining the role of adjuvant radiation for secretory carcinomas in the modern era is of increasing importance. Modestly hypofractionated radiation is well-tolerated. Oncologic outcomes will be assessed with continued long-term follow-up

Lowering positive margin rates at radical prostatectomy by color coding of biopsy specimens to permit individualized preservation of the neurovascular bundles: is it feasible? a pilot investigation

To evaluate whether color-coding of prostate core biopsy specimens aids in preservation of the neurovascular bundles from an oncological perspective. MRI guided transrectal ultrasound and biopsy of the prostate were performed in 51 consecutive patients suspected of being at high risk for harboring prostate cancer. Core specimens were labeled with blue dye at the deep aspect and red dye at the superficial peripheral aspect of the core. The distance from the tumor to the end of the dyed specimen was measured to determine if there was an area of normal tissue between the prostate capsule and tumor. Of the 51 patients undergoing prostate biopsy, 30 (58.8%) were found to have cancer of the prostate: grade group 1 in 13.7%, 2 in 25.5%, 3 in 7.8%, 4 in 7.8% and 5 in 3.9% of the cohort. A total of 461 cores were analyzed in the cohort, of which 122 showed cancer. Five patients opted to undergo robotic assisted laparoscopic radical prostatectomy. No patients had a positive surgical margin (PSM) or extra prostatic extension (EPE) on radical prostatectomy if there was a margin of normal prostatic tissue seen between the dye and the tumor on prostate biopsy. Color-coding of prostate biopsy core specimens may assist in tailoring the approach for preservation of the neurovascular bundles without compromising early oncological efficacy. Further study is required to determine whether this simple modification of the prostate biopsy protocol is valuable in larger groups of patients

Histologic discordance between primary tumor and nodal metastasis in breast cancer: Solving a clinical conundrum in the era of genomics

Next-generation sequencing (NGS) technologies have become increasingly used for managing breast cancer. In addition to the conventional use of NGS for predicting recurrence risk and identifying potential actionable mutations, NGS can also serve as a powerful tool to understand clonal origin and evolution of tumor pairs and play a unique role in clarifying complex clinical presentations. We report an unusual case of early-stage breast cancer in which the primary tumor and draining axillary node were histologically discordant. The primary tumor was invasive lobular carcinoma, whereas the nodal metastasis was invasive ductal carcinoma. This discordance led us to question whether the tumors had the same origin. NGS performed on both specimens identified no overlapping variants, leading us to conclude that the patient had two separate primary breast cancers, with the nodal tumor representing metastasis from an occult breast cancer. DNA sequencing of the primary tumor and the nodal metastasis allowed us to predict the patient\u27s recurrence risk, and we initiated adjuvant chemotherapy and hormonal therapy based on these results. This case illustrates the utility of NGS for successfully managing a rare and challenging case. KEY POINTS: A degree of molecular concordance is expected for tumors originating from a common stem or progenitor cell. The histological discordance and absence of any genomic overlap should raise suspicion for two separate primary tumors. Paired DNA sequencing of the primary tumor and nodal metastasis can inform clinical decisions when primary breast tumor and axillary metastasis are histologically discordant. Molecular/Precision Oncology Tumor Board is the best setting to facilitate such decisions in these challenging cases. Paired DNA sequencing under these rare circumstances may suggest an occult breast tumor

Lowering positive margin rates at radical prostatectomy by color coding of biopsy specimens to permit individualized preservation of the neurovascular bundles: is it feasible? a pilot investigation

ABSTRACT Objective: To evaluate whether color-coding of prostate core biopsy specimens aids in preservation of the neurovascular bundles from an oncological perspective. Materials and Methods: MRI guided transrectal ultrasound and biopsy of the prostate were performed in 51 consecutive patients suspected of being at high risk for harboring prostate cancer. Core specimens were labeled with blue dye at the deep aspect and red dye at the superficial peripheral aspect of the core. The distance from the tumor to the end of the dyed specimen was measured to determine if there was an area of normal tissue between the prostate capsule and tumor. Results: Of the 51 patients undergoing prostate biopsy, 30 (58.8%) were found to have cancer of the prostate: grade group 1 in 13.7%, 2 in 25.5%, 3 in 7.8%, 4 in 7.8% and 5 in 3.9% of the cohort. A total of 461 cores were analyzed in the cohort, of which 122 showed cancer. Five patients opted to undergo robotic assisted laparoscopic radical prostatectomy. No patients had a positive surgical margin (PSM) or extra prostatic extension (EPE) on radical prostatectomy if there was a margin of normal prostatic tissue seen between the dye and the tumor on prostate biopsy. Conclusion: Color-coding of prostate biopsy core specimens may assist in tailoring the approach for preservation of the neurovascular bundles without compromising early oncological efficacy. Further study is required to determine whether this simple modification of the prostate biopsy protocol is valuable in larger groups of patients

Durable response to pembrolizumab in a patient with uterine serous carcinoma and Lynch Syndrome due to the MSH6 germline mutation

Pembrolizumab, a programmed death 1 ligand (PD-1) checkpoint inhibitor, has elicited responses in mismatch repair (MMR)-deficient advanced solid tumors, leading to its agnostic approval by the US Food and Drug Administration in 2017 when no other therapeutic options are available. However, there are still insufficient data on the response to checkpoint inhibitors in advanced endometrial cancer related to Lynch syndrome (LS) and, specifically, in uterine serous carcinoma, which is uncommon in LS. Here we report a case of metastatic uterine serous carcinoma due to a germline MSH6 mutation (Lynch syndrome) that was discovered because of a patient\u27s tumor MMR deficiency. The patient was started on first-line pembrolizumab in 2018 and sustained a partial response. She remains asymptomatic and progression free for more than 2 years. Tumor sequencing showed a high mutational burden and an upstream somatic mutation in the same gene, p.F1088fs. Immunohistochemical staining was negative for PD-L1 expression. We discuss clinical characteristics of the patient, molecular features of her tumor, and the mechanism of her tumor response. We also discuss the duration of immunotherapy in her case. Our case demonstrated a partial response and a long-term remission from the frontline single-agent pembrolizumab in a woman with metastatic uterine serous carcinoma and Lynch syndrome due to a germline MSH6 gene mutation. Our experience suggests a potential significant clinical benefit of checkpoint inhibitors used as single agents early on in the treatment of MMR-deficient/high microsatellite instability/hypermutated uterine cancers in women with Lynch syndrome. KEY POINTS: Even though checkpoint inhibitors are effective in mismatch repair-deficient endometrial cancer, it is unknown whether the response to them differs between women with endometrial cancer due to germline mutations in a mismatch repair gene (Lynch syndrome) and women with sporadic endometrial cancer. In our case, a patient with Lynch syndrome and recurrent mismatch repair-deficient serous endometrial cancer achieved a durable remission on the first-line therapy with the checkpoint inhibitor pembrolizumab and remains progression free after more than 2 years. Based on our observation and the data, suggesting the stronger immune activation in women with Lynch syndrome-associated endometrial cancer, we propose to use checkpoint inhibitor monotherapy early in the course of their treatment and stratify patients for the presence of Lynch syndrome in clinical trials