Primary Oropharyngeal SMARCA4-Deficient Carcinoma: Expanding the Diagnostic Spectrum in Head and Neck Cancer.

With the advent of molecular immunohistochemistry and next generation sequencing, Switch/sucrose non-fermentable (SWI/SNF) chromatin remodeling complex altered tumors have gained recognition recently. SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily B member 1 (SMARCB1) and SMARCA4 are the primary SWI/SNF components altered in several recently described undifferentiated malignancies in head and neck region with predilection for paranasal sinuses in SMARCB1-deficient tumors and nasal cavity in SMARCA4-deficient tumors. However, to the best of our knowledge, SMARCA4-deficient tumors of the oropharynx have not been described. We present an unusual case of SMARCA4-deficient carcinoma of the oropharynx (palatine tonsil) which is the first case in the literature, expanding the topographic distribution of SMARCA4-deficient tumors in the head and neck region and emphasizing the importance of BRG1 as an essential immunohistochemical marker for the diagnosis of this distinct entity.

Posterior keratometry changes after steep axis phacoemulsification: a prospective study.

Purpose: To measure changes in posterior corneal curvature after steep axis phacoemulsification and investigate the possibility of its effect on SIA. Methods: This was a prospective longitudinal study on 60 consecutive eyes of age-related cataract with regular astigmatism and absence of co-morbidities undergoing uneventful cataract surgeries with main incision at steep meridian. Preoperative and 4 weeks postoperative measurements of anterior and posterior corneal curvatures using Scheimpflug based corneal topographer were performed. Posterior corneal curvature was assessed at 3, 5- and 7-mm diameters. Results: The study found a statistically significant change in posterior corneal K1, K2 and mean astigmatism in all zones (3, 5 and 7 mm) at 4 weeks postoperative, when compared to preoperative readings. Conclusion: Posterior keratometry is likely to be an important determinant of Surgically Induced Astigmatism (SIA) and should be factored in for refractive cataract surgery.

Effectiveness of Head-and-Neck Molecular Imaging Reporting and Data System Criterion in Head-and-Neck Squamous Cell Carcinoma PostConcurrent Chemoradiotherapy.

Purpose: Postconcurrent chemoradiotherapy (CRT) response assessment has been challenging in locally advanced head-and-neck squamous cell carcinoma (LA-HNSCC) due to prevailing postradiation changes. Molecular response methods have been encouraging, although further clarifications and validations were needed. We tested the effectiveness of a proposed semi-quantitative molecular response criterion in these patients. Materials and Methods: Two subspecialty-trained physicians evaluated 18F-fluorodeoxyglucose positron emission tomography/computed tomography of LA-HNSCC patients (n = 83) post 3 months CRT using a five points Head and Neck Molecular Imaging-Reporting and Data System (HAN-MI-RADS) criterion. Where available, histopathology examination with clinical and imaging interpretation was taken as a reference for the disease. A diagnostic accuracy comparison was done with the existing Hopkins score. Further effectiveness was analyzed with disease-free survival (DFI) and overall survival (OS). Results: Metastasis was developed in 11/83 patients at 3 months of evaluation. Of 72 patients, 39, 2, and 31 patients had a complete response, equivocal response, and partial response as per HAN-MI-RADS. Per patient sensitivity, specificity, positive predictive value, negative predictive value, and accuracy for predicting loco-regional disease up to 1 and 2 years was 93.3%, 92.5%, 90.3%, 94.9%, 92.9%, and 84.9%, 91.9%, 90.3%, 87.2%, and 88.6% respectively. One year and two years DFI for each HAN-MI-RADS score showed a statistically significant difference while it was not for OS. The receiver operating characteristic curve analysis showed significantly better outcome predictability of HAN-MI-RADS (area under the curve [AUC] 0.884) than Hopkins (AUC 0.699). Conclusions: A five points HAN-MI-RADS criterion was found promising for response assessment with less equivocal results and statistically significant higher AUC than Hopkins for loco-regional recurrence prediction.

Neurofibromatosis 1: A family case series.

Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease comes under a group of multisystem hereditary syndromes called phakomatoses. It presents with skin, ophthalmic, bony, and systemic manifestations. We present a photographically well-documented case series of NF in a family (n = 3). Skin manifestations were present in all the patients. The ophthalmic manifestations were Lisch nodules (100% of eyes), subcutaneous neurofibroma of eyelids (33% of eyes), mechanical ptosis (33% of eyes), and mechanical ectropion (16.5% of eyes). We report the rare occurrence of multiple solitary neurofibromas causing mechanical ptosis and mechanical ectropion.

Molecular Response Assessment with Immune Adaptive PERCIST in Lung Cancer Patients Treated with Nivolumab: Is It Better Than iRECIST?

Aims We compared the immune response evaluation criteria in solid tumors (iRECIST) with immune adaptive positron emission tomography response criteria in solid tumors (imPERCIST) in lung cancer patients treated with nivolumab. Materials and Methods Twenty lung cancer patients underwent fluorodeoxyglucose positron emission tomography/computed tomography (FDG PET/CT) scan at baseline (PET-0), after four cycles (PET-1) and six to eight cycles (PET-2) of nivolumab were included. Kappa coefficient ( k ) was derived to see the level of agreement in two response criteria. Progression-free survival (PFS) curves were computed by the Kaplan-Meier method and compared with the Log Rank test. Univariate and multivariate regression for the percentage change in the sum of diameters (SoD), standard uptake value maximum (SUVmax), sum of metabolic tumor volume (SoMTV), and sum of total lesion glycolysis (SoTLG) was computed. A p -value less than 0.05 was considered significant. Results Kappa coefficient showed a substantial level of agreement (k 0.769) in two response criteria. Mean PFS in partial response, stable disease, and progressive disease (PD) patients in iRECIST and imPERCIST was 27.3, 17.7, 4.2, and 23.3, 18.8, 3.8 months, respectively. The Kaplan-Meier method with the log rank test showed a significant difference in PFS on intracomparison within both criteria; however, it was not significant on intercomparison. On univariate analysis, the percentage change in SoD, SoMTV, SoTLG was significant. However, on multivariate analysis, only percentage change in SoD was a significant predictor. Conclusions We concluded that imPERCIST was equally effective as currently recommended criteria iRECIST for response evaluation of nivolumab in lung cancer patients.

Adamantinoma-like Ewing Sarcoma of the Nasal Cavity: A Rare Clinical Presentation with Deceptive Histopathologic Features.

Ewing sarcoma (ES) is a malignant round cell tumour (MRCT) that usually involves bone and soft tissue of young and paediatric populations. ES of the head and neck region is uncommon. Adamantinoma-like Ewing sarcoma (ALES) is a rare variant of ES that shows complex epithelial differentiation on histopathology and immunohistochemistry (IHC). It demonstrates a t(11;22) translocation and EWSR1- FLI1 fusion. Most documented cases of ALES of the head and neck region were initially misdiagnosed as epithelial tumours. We present a rare case of ALES of the nasal cavity in a young female. The patient subsequently underwent chemotherapy and showed an excellent response. Awareness of this entity is important for pathologists and oncologists due to its distinct therapeutic and prognostic implications. We propose performing upfront NKX2.2 and CD99 IHC studies, as well as other lineage specific IHC markers, in any poorly differentiated MRCT of head and neck region.

Rare Case of Spontaneous Pneumorrhachis in a Young Male with COVID-19.

Here we present a rare case of spontaneous pneumomediastinum complicated with pneumorrhachis (PR) in a young man who is a known case of carcinoma rectosigmoid region. Our young male was diagnosed with novel coronavirus disease 2019 (COVID-19) and remained asymptomatic for any respiratory complaints. Though an association of pneumomediastinum has been reported in COVID 19 patients, to the best of our knowledge, this is the first report of PR in a COVID-19 oncological case. The role of a radiologist is to identify this condition as cases reported earlier may have serious neurological consequences. Pursuing the cause can be a diagnostic challenge but it reaps the clinical benefit in the appropriate management.

Multicentric real world evidence with palbociclib in hormone positive HER2 negative metastatic breast cancer in Indian population.

The combination of cyclin dependent kinase 4/6 inhibitors with endocrine therapy is the standard therapy in hormone receptor positive HER-2 negative metastatic breast cancer (HR+/HER2- MBC). Several randomized trials have shown the benefits of this combination, however, real world evidence in the Indian patients is warranted. The present study reports the largest real world multicentric data from Indian population on the use of Palbociclib in HR+/HER2- MBC. A multicentric study on the HR+/HER2- MBC patients who received palbociclib with hormonal agent (Aromatase inhibitors/Fulvestrant) between February 2017 and May 2020 was conducted. Clinical and demographic information and survival data was retrieved from the Hospital medical records. Among a total of 188 patients, 57% patients were premenopausal and 17% patients had bone only disease. Altogether, 115 (61%) patients received palbociclib with Aromatase inhibitors in the first line whereas 73 (39%) patients received it in the second line with Fulvestrant. The median follow up period with advanced disease was 13 months. The median progression free survival in the first line and second line was 20.2 months and 12 months, respectively (p-value < 0.0001). The objective response rate was 80% and 47.9% in first and second lines, respectively. Dose interruptions/ discontinuation were done in 14.9% and 2.7% patients in the first and second lines, respectively. In terms of toxicity, 10% patients had grade 3-4 adverse events. The present real world data of the use of palbociclib in Indian population suggests similar effectiveness to previously published real world evidences and has been adapted as the standard of care in the first and second line treatment of HR+/HER2- MBC.

Should fluorodeoxyglucose positron emission tomography/computed tomography be the first-line imaging investigation for restaging the laryngeal carcinoma patients?

Posttreatment detection of residual/recurrence disease in the head and neck cancers is not an easy task. Treatment induces changes create difficulties in diagnosis on conventional imaging (computed tomography [CT], magnetic resonance imaging) as well as macroscopic inspection (direct laryngoscopy). Hence, we evaluate the diagnostic performance of contract-enhanced F-18 fluorodeoxyglucose positron emission tomography (FDG PET)/CT in restaging of laryngeal carcinoma Postchemotherapy-surgery and/or radiation therapy. We retrospectively analyzed patients of carcinoma larynx (n = 100) who has completed treatment and were referred for FDG PET/CT. Two reviewers performed image analysis to determine recurrence at primary site and/lymph nodes and distant metastases. Receiver operating characteristic (ROC) was used to determine the maximum standardized uptake value (SUVmax) cut off for disease detection. Histopathological examination and clinical or imaging follow-up were taken as gold standard for recurrence. One hundred laryngeal carcinoma patients with mean age of 57.2 years (range of 40-76) were included in the present study. Among the 100 patients, 96 were male and remaining 4 were female. The average interval between completion of treatment and FDG PET/CT scan was 8.5 months (minimum 6 months). Of the 100 patients, FDG PET/CT detected FDG avid lesions in 66 patients. Sensitivity, specificity, positive predictive value, negative predictive value, and diagnostic accuracy of FDG PET/CT for residual/recurrence disease detection was 90.3%, 73.7%, 84.8%, 82.3%, and 84.0%, respectively (P < 0.05). In addition, in 10 patients, metachronous primaries were detected (lung-4, thyroid-2, tongue, colon, esophagus, and lymphoma-one each). On ROC curve analysis, SUVmax >6.1 had sensitivity and specificity of 80.6% and 94.7% respectively for detection of recurrent/metastatic disease. FDG PET/CT demonstrates high diagnostic accuracy for detection of residual/recurrent disease in treated laryngeal cancer patients and our findings suggest that this imaging modality should be the first-line diagnostic investigation in this cohort of patients.

Is F-18 FDG PET/computed tomography a useful tool to restage the patients with tongue carcinoma?

OBJECTIVE: The aim of this study was to evaluate the diagnostic performance of contrast-enhanced F-18 fluoro-2-deoxyglucose (F-18 FDG) PET/computed tomography (CT) in restaging of tongue carcinoma. MATERIAL AND METHODS: Retrospectively analysis of carcinoma tongue patients (n = 110) who were treated and referred for FDG PET/CT. Histopathological examination and clinical or imaging follow-up were taken as gold standard. RESULTS: Of 110 patients, FDG PET/CT detected FDG avid lesions in 69 (62.7%) patients. Sensitivity, specificity and diagnostic accuracy of FDG PET/CT were 92.9%, 90.0% and 91.8%, respectively, for residual/recurrence disease detection (P < 0.05). Additionally, in six patients, metachronous primaries were also detected [lung (4), esophagus and lymphoma (1) each]. The mean maximum standardized uptake value (SUVmax) with 95% confidence interval for primary site recurrence, regional lymph nodes and metastatic lesions was 11.51 (9.53-13.48), 69 (62.7%) (7.88-11.48) and 8.94 (3.11-14.76), respectively. CONCLUSION: FDG PET/CT demonstrates high diagnostic accuracy for detection of residual/recurrent disease in treated tongue cancer patients and PET/CT should be considered as first-line diagnostic investigation in these patients.

Indian clinical practice consensus guidelines for the management of squamous cell carcinoma of head and neck.

Head and neck cancers (HNCs) are malignant tumors of the upper aerodigestive tract and are the sixth most common cancer worldwide. In India, around 30-40% of all cancers are HNCs. Even though there are global guidelines or recommendations for the management of HNCs, these may not be appropriate for Indian scenarios. In an effort to discuss current practices, latest developments and to come to a consensus to recommend management strategies for different anatomical subsites of HNCs for Indian patients, a group of experts (medical, surgical and radiation oncologists and dentists) was formed. A review of literature from medical databases was conducted to provide the best possible evidence base, which was reviewed by experts during a consensus group meeting (January, 2019) to provide recommendations.

Role of Maintenance Gemcitabine in Advanced Carcinoma Gallbladder.

Objective The aim of this study is to investigate the effects of gemcitabine maintenance on progression-free survival (PFS) in patients with metastatic gallbladder cancer (GBC). Materials and Methods Sixty patients with unresectable or metastatic GBC having ongoing response to treatment with initial six cycles of gemcitabine and a platinum-based doublet chemotherapy were prospectively randomized on day 21 of the 6th cycle in 1:1 fashion to receive either maintenance gemcitabine 1 g/m 2 intravenously on day 1 and day 8 of three weekly cycle or observation. Survival analysis was performed using the Kaplan-Meier method and comparisons by the log-rank test. A p -value < 0.05 was considered as statistically significant. Results Of 60 patients, a total of 56 were available for final analysis. The median PFS was 4.7 months (3.1-6.3) in gemcitabine arm and 2.6 months (2.4-2.8) in observation arm, hazard ratio (HR) 0.196 (95% confidence interval [CI]: 0.1-0.39), p < 0.001. Median overall survival in gemcitabine arm was 12.4 months (9.15-15.6) as opposed to 9.9 months (8.29-11.5) in observation arm, HR 0.76 (95% CI: 0.43-1.35), p = 0.354. The grade 3 or 4 side effects in maintenance arm were transaminitis (17.9%), thrombocytopenia (17.8%), neutropenia (14.2%), and febrile neutropenia (7.1%). Conclusions Maintenance gemcitabine therapy in unresectable/metastatic GBC patients responding to first-line gemcitabine and platinum treatment contributes to increase PFS with minimal and manageable side effects.

Value of diffusion MR imaging in differentiation of recurrent head and neck malignancies from post treatment changes.

PURPOSE: Role of diffusion-weighted (DW) MR imaging in differentiating residual or recurrent neck malignancies from postoperative/post-radiation changes with histopathological correlation and comparison with PET-CT. METHODS AND MATERIALS: Prospective observational study for a period of 1 year in 62 post-radiation/post-operative patients suspected to have residual/recurrent tumors of neck with lesion diameter more than 5 mm measured on MRI. RESULTS: Mean ADC for recurrent/residual tumors: 1.008 ±â€¯0.220 × 10-3 mm2/s - significantly lower than mean ADC value for post-treatment changes of 1.69 ±â€¯0.40 × 10-3 mm2/s (p < 0.0001). The overall diagnostic accuracy, positive predictive value (PPV) and negative predictive value (NPV) of the qualitative assessment for the use of DWI in differentiating tumors recurrence from post-treatment changes were 96.6%, 96% and 83.3%, respectively. Upon quantitative analysis of the DW imaging data, a threshold ADC value of 1.3 × 10-3 mm2/s used for differentiating between post-treatment changes and recurrent cancers showed the highest combined sensitivity of 94%, specificity of 83.3%, accuracy of 93.6%, positive predictive value of 95.9%, and negative predictive value of 83.3%. CONCLUSION: DW MRI is a promising non-invasive MRI technique used to differentiate recurrent/residual head and neck malignancies from posttreatment changes based on ADC values. DWI offers advantage as it has a short scanning time and can be safely added to standard MRI protocol with minimum patient discomfort. Complementary use of DWI and PET/CT imaging may increase diagnostic confidence for differentiating recurrent disease from radiation therapy-induced changes after 6-12 months in posttreatment cases.