scholarly journals A study to compare clinico-histopathological and dermoscopic findings in patients of vitiligo

Author(s):  
Krishnendra Varma ◽  
Ujjwal Kumar ◽  
Siddharth Sethi

<p><strong>Background: </strong>Vitiligo is an acquired disorder; characterised by well-defined depigmented macules and patches. Its diagnosis is clinical but histopathology aids in doubtful cases, histopathological findings depend on the duration of clinical lesions. Dermoscopy serves as an auxiliary tool for diagnostic confirmation and additionally aids in the evaluation of disease activity. <strong></strong></p><p><strong>Methods: </strong>It’s the hospital based observational study of 50 vitiligo patients. After ethical committee approval and patient’s consenting, detailed history with clinical and dermatological examination was performed using a dermoscope (10X) and biopsy sample was sent for examination. The results were statistically analysed, discussed and their correlation with clinical diagnosis was established.<strong></strong></p><p><strong>Results: </strong>Generalised vitiligo was the most common presentation found, with koebnerization signifying progressive disease. Epidermal hyperkeratosis and absence of melanocytes were found to be significant in stable disease. Perilesional/marginal hyperpigmentation was observed in stable disease, while perifollicular depigmentation, trichrome pattern, comet tail appearance, micro koebner’s phenomenon and tapioca sago appearance were the findings significant in unstable disease.<strong></strong></p><p><strong>Conclusions: </strong>Vitiligo is primarily a clinical diagnosis; additional modalities may be required either to confirm the diagnosis like histopathology or to assess the progression of disease with dermoscopy. Unstable disease display perifollicular depigmentation whereas stable disease display perifollicular pigmentation, and can be compared with epidermal hyperkeratosis and absence of melanocytes in the lesions of stable vitiligo on histopathology. Such studies with a greater number of cases are recommended for having better understanding of the findings.<strong></strong></p><p class="abstract"> </p>

2021 ◽  
Vol 15 ◽  
pp. 117955492199307
Author(s):  
Klaus Hackner ◽  
Anna Buder ◽  
Maximilian J Hochmair ◽  
Matthaeus Strieder ◽  
Christina Grech ◽  
...  

Background: Proof of the T790M resistance mutation is mandatory if patients with EGFR-mutated non-small cell lung cancer (NSCLC) progress under first- or second-generation tyrosine kinase inhibitor therapy. In addition to rebiopsy, analysis of plasma circulating tumor DNA is used to detect T790M resistance mutation. We studied whether sputum is another feasible specimen for detection of EGFR mutations. Methods: Twenty-eight patients with advanced EGFR-mutated NSCLC were included during stable and/or progressive disease. The initial activating EGFR mutations (exon 19 deletions or L858R mutations) at stable disease and at progressive disease (together with T790M) were assessed in simultaneously collected plasma and sputum samples and detected by droplet digital polymerase chain reaction (ddPCR). Results: Activating EGFR mutations were detected in 47% of the plasma samples and 41% of sputum samples during stable disease, and in 57% of plasma samples and 64% of sputum samples during progressive disease. T790M was detected in 44% of the plasma samples and 66% of the sputum samples at progressive disease. In ddPCR T790M-negative results for both specimens (plasma and sputum), negativity was confirmed by rebiopsy in 5 samples. Concordance rate of plasma and sputum for T790M was 0.86, with a positive percent agreement of 1.0 and a negative percent agreement of 0.80. Conclusions: We demonstrated that EGFR mutation analysis with ddPCR is feasible in sputum samples. Combination of plasma and sputum analyses for detection of T790M in NSCLC patients with progressive disease increases the diagnostic yield compared with molecular plasma analysis alone.


Cancers ◽  
2021 ◽  
Vol 13 (8) ◽  
pp. 1876
Author(s):  
Madlen Reschke ◽  
Eva Biewald ◽  
Leo Bronstein ◽  
Ines B. Brecht ◽  
Sabine Dittner-Moormann ◽  
...  

Retinoblastoma and other eye tumors in childhood are rare diseases. Many eye tumors are the first signs of a genetic tumor predisposition syndrome and the affected children carry a higher risk of developing other cancers later in life. Clinical and genetic data of all children with eye tumors diagnosed between 2013–2018 in Germany and Austria were collected in a multicenter prospective observational study. In five years, 300 children were recruited into the study: 287 with retinoblastoma, 7 uveal melanoma, 3 ciliary body medulloepithelioma, 2 retinal astrocytoma, 1 meningioma of the optic nerve extending into the eye. Heritable retinoblastoma was diagnosed in 44% of children with retinoblastoma. One child with meningioma of the optic nerve extending into the eye was diagnosed with neurofibromatosis 2. No pathogenic constitutional variant in DICER1 was detected in a child with medulloepithelioma while two children did not receive genetic analysis. Because of the known association with tumor predisposition syndromes, genetic counseling should be offered to all children with eye tumors. Children with a genetic predisposition to cancer should receive a tailored surveillance including detailed history, physical examinations and, if indicated, imaging to screen for other cancer. Early detection of cancers may reduce mortality.


2021 ◽  
Vol 9 (4) ◽  
pp. e001752
Author(s):  
Rivka R Colen ◽  
Christian Rolfo ◽  
Murat Ak ◽  
Mira Ayoub ◽  
Sara Ahmed ◽  
...  

BackgroundWe present a radiomics-based model for predicting response to pembrolizumab in patients with advanced rare cancers.MethodsThe study included 57 patients with advanced rare cancers who were enrolled in our phase II clinical trial of pembrolizumab. Tumor response was evaluated using Response Evaluation Criteria in Solid Tumors (RECIST) 1.1 and immune-related RECIST (irRECIST). Patients were categorized as 20 “controlled disease” (stable disease, partial response, or complete response) or 37 progressive disease). We used 3D-slicer to segment target lesions on standard-of-care, pretreatment contrast enhanced CT scans. We extracted 610 features (10 histogram-based features and 600 second-order texture features) from each volume of interest. Least absolute shrinkage and selection operator logistic regression was used to detect the most discriminatory features. Selected features were used to create a classification model, using XGBoost, for the prediction of tumor response to pembrolizumab. Leave-one-out cross-validation was performed to assess model performance.FindingsThe 10 most relevant radiomics features were selected; XGBoost-based classification successfully differentiated between controlled disease (complete response, partial response, stable disease) and progressive disease with high accuracy, sensitivity, and specificity in patients assessed by RECIST (94.7%, 97.3%, and 90%, respectively; p<0.001) and in patients assessed by irRECIST (94.7%, 93.9%, and 95.8%, respectively; p<0.001). Additionally, the common features of the RECIST and irRECIST groups also highly predicted pembrolizumab response with accuracy, sensitivity, specificity, and p value of 94.7%, 97%, 90%, p<0.001% and 96%, 96%, 95%, p<0.001, respectively.ConclusionOur radiomics-based signature identified imaging differences that predicted pembrolizumab response in patients with advanced rare cancer.InterpretationOur radiomics-based signature identified imaging differences that predicted pembrolizumab response in patients with advanced rare cancer.


2021 ◽  
Vol 14 (6) ◽  
pp. e243058
Author(s):  
Cristian Solano ◽  
Shrinjaya Thapa ◽  
Mohammad Muhsin Chisti

Xp11.2 translocation renal cell carcinoma (TRCC) is a rare and aggressive variant of renal cell carcinoma (RCC) when presenting in adults. We report a case of a man in his early 40s who was diagnosed with stage III Xp11.2 TRCC and underwent radical nephrectomy. Seven months following the surgery, an adrenal nodule and bilateral pulmonary nodules were discovered. He underwent cryoablation of the adrenal nodule and systemic treatment with daily pazopanib. He displayed stable disease for approximately 6 years. Following this period, multiple hospitalisations interrupted daily pazopanib therapy resulting in progression of disease. His regimen was then changed to ipilimumab and nivolumab, followed by current daily therapy with axitinib. The patient now shows stable disease in his 10th year after diagnosis. This case study demonstrates the efficacy of pazopanib for metastatic Xp11.2 TRCC and warrants further investigation to supplement the guidelines regarding the use of targeted therapy for TRCC.


2021 ◽  
Vol 56 (1) ◽  
pp. 56
Author(s):  
Evelyn Komaratih ◽  
Yuyun Rindiastuti ◽  
Yulia Primitasari

Glaucoma is the leading cause of irreversible blindness. The aim of this study was to review the profile of secondary glaucoma cases visiting a tertiary hospital in East Java. This is retrospective observational study, completed case records of new patients with secondary glaucoma who presented to glaucoma clinic from January 2014 to April 2016 were included. Out of the 363 case records screened, 66 cases were found to eligible for inclusion. The evaluation included a detailed history and examination performed including vision, anterior segment examination, intraocular pressure (IOP), gonioscopy, and fundus evaluation. Diagnosis of secondary glaucoma was made on the basis of presence of a secondary cause for presence of raised IOP. 66 cases were eligible for inclusion in the study, most of the cases was occurred in the range age 21-50 years. The male female ratio was 1.3:1. Frequent causes of secondary glaucoma were lens factor 30.8%, steroid induced 29.5%, uveitic 20.5%, neovascular15.4%, and surgical complication 3.8%. Most patients with secondary glaucoma have poor vision < 0.1 with high IOP at presentation. Assessment and early detection of underlying cause is the key guide to treatment strategy.


2008 ◽  
Vol 158 (2) ◽  
pp. 239-246 ◽  
Author(s):  
Anne Laure Giraudet ◽  
Abir Al Ghulzan ◽  
Anne Aupérin ◽  
Sophie Leboulleux ◽  
Ahmed Chehboun ◽  
...  

ObjectiveThe progression of medullary thyroid cancer is difficult to assess with imaging modalities; we studied the interest of calcitonin and carcinoembryonic antigen (CEA) doubling times and of Ki-67 labeling and mitotic index (MI).Patients and methodsFifty-five consecutive medullary thyroid carcinoma (MTC) patients with elevated calcitonin levels underwent repeated imaging studies in order to assess tumor burden and progression status. We looked for relationships between tumor burden and levels of calcitonin and CEA and between progression status according to the response evaluation criteria in solid tumors (RECIST) and calcitonin and CEA doubling times, and Ki-67 labeling and MI.ResultsThe calcitonin and CEA levels were correlated with tumor burden. Ten patients with calcitonin levels below 816 pg/ml had no imaged tumor foci. Among the 45 patients with imaged tumor foci, 19 had stable disease and 26 had progressive disease, according to the RECIST. The calcitonin and CEA doubling times were strongly related to disease progression, with very few overlaps: 94% of patients with doubling times shorter than 25 months had progressive disease and 86% of patients with doubling times longer than 24 months had stable disease. Ki-67 labeling and MI were not significantly associated with disease progression.ConclusionFor MTC patients, the doubling times of both calcitonin and CEA are efficient tools for assessing tumor progression.


2001 ◽  
Vol 19 (2) ◽  
pp. 289-298 ◽  
Author(s):  
J. Nemunaitis ◽  
F. Khuri ◽  
I. Ganly ◽  
J. Arseneau ◽  
M. Posner ◽  
...  

PURPOSE: To determine the safety, humoral immune response replication, and activity of multiple intratumoral injections of ONYX-015 (replication selective adenovirus) in patients with recurrent squamous cell carcinoma of the head and neck (SCCHN).PATIENTS AND METHODS: This phase II trial enrolled patients with SCCHN who had recurrence/relapse after prior conventional treatment. Patients received ONYX-015 at a dose of 2 × 1011particles via intratumoral injection for either 5 consecutive days (standard) or twice daily for 2 consecutive weeks (hyperfractionated) during a 21-day cycle. Patients were monitored for tumor response, toxicity, and antibody formation.RESULTS: Forty patients (30 standard and 10 hyperfractionated) received 533 injections of ONYX-015. Standard treatment resulted in 14% partial to complete regression, 41% stable disease, and 45% progressive disease rates. Hyperfractionated treatment resulted in 10% complete response, 62% stable disease, and 29% progressive disease rates. Treatment-related toxicity included mild to moderate fever (67% overall) and injection site pain (47% on the standard regimen, 80% on the hyperfractionated regimen). Detectable circulating ONYX-015 genome suggestive of intratumoral replication was identified in 41% of tested patients on days 5 and 6 of cycle 1; 9% of patients had evidence of viral replication 10 days after injection during cycle 1, and no patients had evidence of replication ≥ 22 days after injection.CONCLUSION: ONYX-015 can be safely administered via intratumoral injection to patients with recurrent/refractory SCCHN. ONYX-015 viremia is transient. Evidence of modest antitumoral activity is suggested.


2015 ◽  
Vol 49 (3) ◽  
pp. 279-285 ◽  
Author(s):  
Viljem Kovac ◽  
Metoda Dodic-Fikfak ◽  
Niko Arneric ◽  
Vita Dolzan ◽  
Alenka Franko

AbstractBackground.Fibulin-3 is a new potential biomarker for malignant mesothelioma (MM). This study evaluated the potential applicability of fibulin-3 plasma levels as a biomarker of response to treatment and its prognostic value for progressive disease within 18 months. The potential applicability of fibulin-3 in comparison with or in addition to soluble mesothelin-related peptides (SMRP) was also assessed.Patients and methods.The study included 78 MM patients treated at the Institute of Oncology Ljubljana between 2007 and 2011. Fibulin-3 levels in plasma samples obtained before treatment and in various responses to treatment were measured with the enzyme-linked immunosorbent assay.Results.In patients evaluated before the treatment, fibulin-3 levels were not influenced by histopathological sub-types, tumour stages or the presence of metastatic disease. Significantly higher fibulin-3 levels were found in progressive disease as compared to the levels before treatment (Mann-Whitney [U] test = 472.50, p = 0.003), in complete response to treatment (U = 42.00, p = 0.010), and in stable disease (U = 542.00, p = 0.001). Patients with fibulin-3 levels exceeding 34.25 ng/ml before treatment had more than four times higher probability for developing progressive disease within 18 months (odds ratio [OR] = 4.35, 95% confidence interval [CI] 1.56–12.13). Additionally, patients with fibulin-3 levels above 34.25 ng/ml after treatment with complete response or stable disease had increased odds for progressive disease within 18 months (OR = 6.94, 95% CI 0.99–48.55 and OR = 4.39, 95% CI 1.63–11.81, respectively).Conclusions.Our findings suggest that in addition to SMRP fibulin-3 could also be helpful in detecting the progression of MM.


Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 2399-2399 ◽  
Author(s):  
Klaus Hollmig ◽  
Julie Stover ◽  
Giampaolo Talamo ◽  
Athanasios Fassas ◽  
Choon-Kee Lee ◽  
...  

Abstract Velcade™ (Vel) has shown promising activity as single agent and, more recently, in combination with other antimyeloma agents (dexamethasone, thalidomide) in relapsed or refractory multiple myeloma. We have now explored the efficacy and safety of adding Adriamycin™ 2.5–10.0mg/m2 continuous infusion on days 1–4 and days 9–12 to Velcade™ 1.0 or 1.3 mg/m2 administered on days 1, 4, 9 and 11; thalidomide 50 or 100 mg days 1–12; and dexamethasone 20 or 40 mg days 1–4 and 9–12 (VATD). The treatment was administered in an out-patient, ambulatory care setting to 20 patients. Of the 20 patients evaluable for toxicity, 14 are also evaluable for response. Patient characteristics are outlined in Table 1. Prior resistance to Velcade™-based treatment was demonstrated in 19 patients, with progressive disease in 13 and stable disease in 6. All patients have received systemic therapy immediately prior to the initiation of VATD, which included Vel + thal (7), VTD (5), DT-PACE (4), Revlimid (3), and dex + thal (1). Hematologic toxicities were dependent on the pre-VATD platelet count and WBC levels, as outlined in Table 2. Out of 14 evaluable patients, partial response (≤ 75% of serum M protein reduction, ≤ 75% of urinary M excretion) was obtained in 7 (50%); none had a complete response. Serum M protein decreased by a median of 57% (21–90%) and urine M decreased by a median of 93% (21–90%). Bone marrow follow-up examinations were available in 13 patients and revealed a median reduction in monoclonal plasmacytosis of 50% (range 33–94%); none had a normal bone marrow. Pre-VATD PET scans showed evidence of disease in 10 patients. Post VATD PET scans showed improvement in 5, stable disease in 1 and progressive disease in 4 patients. Our results are promising and demonstrate that administration of Adriamycin™ can be safely added to VTD, and that this addition does overcome the resistance to Velcade-based therapy even in metronomic doses. This approach is now being formally evaluated in a randomized trial comparing VTD alone versus added Adriamycin™ 2.5 mg/m2 on days 1–4 and 9–12 as a salvage protocol in patients with recurrent or progressive MM. Patient Characteristics Velcade 1.0 mg/m² Velcade 1.3 mg/m² Parameter Total Adria 2.5 mg/m² Adria 5 mg/m² Adria 10 mg/m² Adria 5 mg/m² 1: Autotransplant; 2: Thalidomide; 3: Velcade; 4: Velcade; Thalidomide, Dexamethasone N 20 7 10 1 2 % Age ≥ 65 14 14 60 100 0 % Abn Cytogen 55 43 60 100 50 % Prior Autotx1 85 86 80 100 100 % Prior Thal2 100 100 100 100 100 % Prior Vel³ 95 100 90 100 100 % Prior VTD[sup4] 45 71 20 100 50 % LDH > 190 U/l 55 57 60 100 0 Hematologic Toxicities Pre-Treatment Median WBC Nadir Platelet Count WBC < 2,000 WBC > 2,000 WBC < 2,000 WBC > 2,000 > 100k (n=6) 1 5 .65 2.07 50k-100k (n=9) 3 6 .94 1.73 < 50k (n=4) 1 3 1.98 3.44 Median Platelet Nadir > 100k 46,000 51,000 50K–100k 11,000 20,000 < 50K 36,000 47,000


Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 5489-5489
Author(s):  
Emilio P. Alessandrino ◽  
Letizia Zenone Bragotti ◽  
Anna A. Colombo ◽  
Alessandra Algarotti ◽  
Paolo Bernasconi ◽  
...  

Abstract From 1996 to 2003, 113 consecutive patients with multiple myeloma were treated with four different high dose approaches rescued by autologous peripheral blood progenitor cells (PBPC) after four cycles of VAD or other combinations. The median age was 53 years 31–68), 58% were male and 42% female, the median interval from diagnosis to transplant was 252 days (range 160–3116 days). Twenty-five patients received as preparative regimen Carmustine, Etoposide and Melphalan (BVM) at the total dose of 600 mg/m2, 900mg/m2 and 140–180 mg m2 respectively. Nineteen pts had as preparative regimen Thiotepa and Melphalan at the total dose of 10 mg/kg and 140–180 mg/m2 respectively, 38 pts received a double transplant with Melphalan given as a single agent at the dose of 200 mg/m2, while 31 pts received a single transplant with Melphalan 200 mg/m2. In patients with poor performance status at transplant or previous history of infection or renal impairment, the dose of melphalan was reduced by 20% respect to the standard planned dose. in the group of 25patients treated by BVM, 10 had progressive disease, 6 stable disease (SD), 7 partial remission (PR), 1 very good partial remission (VGPR). At day +90 from transplant, 17 patients were in CR or PR (68%). The actuarial probability of overall survival and event free survival at 5 years were 40% and 20%, respectively. One pt died of transplant, one developed a solid tumor 24 mos after transplant. in the group of 19 pts treated with TT and Mel (TT-Mel), 3 pts were with progressive disease, 3 with stable disease, 6 in partial remission, 3 with minimal response, 3 in VGPR, 1 in CR. At day +90, 15 pts were in CR or PR (78%). The actuarial probability of survival was 50% at 5 years, and event free survival 28%. in the group of 38 pts who received a double transplant, 7 pts were with progressive disease, 3 with stable disease, 14 in PR, 12 in VGPR or CR. At day +90 after the second transplant, 31 of 38 patients (81%) were in CR or PR. Overall survival and event free survival was respectively 48% and 20% at five years. in the group of 31 pts receiving a single transplant with Melphalan alone, 8 were with progressive disease, 1 with stable disease, 6 in VGPR, 1 in CR, 13 in PR. At day +90, 21 of 31 patients (67%) were in CR or PR. Overall survival and event free survival was respectively 45% and 22% at five years. In conclusion, double transplant seems better than one transplant with melphalan alone in terms of EFS and OS (p<0.03); the BVM combination produces high response rates, the regimen, however, is toxic with a high rate of life threatening mucositis. the addition of Carmustine and Vepeside or Thiotepa to Melphalan does not produce significant improvement of OS and EFS.


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