Knowledge of cytology results affects the performance of colposcopy: a crossover study

peer reviewedAbstract Objective – To determine whether knowledge of cytology affects the colposcopist’s diagnostic accuracy in the identification of cervical intraepithelial neoplasia grade 2 and worse (≥ CIN2). Method – In this cross-over study, healthcare professionals interpreted colposcopy images from 80 patient cases with known histological diagnoses. For each case, 2 images taken with a colposcope were provided (native and after acetic acid application). Inclusion criteria consisted of women with a transformation zone type 1 or 2, who had both a cytological and histological diagnosis. Cases were distributed across two online surveys, one including and one omitting the cytology. A wash-out period of six weeks between surveys was implemented. Colposcopists were asked to give their diagnosis for each case as < CIN2 or ≥ CIN2 on both assessments. Statistical analysis was conducted to compare the two interpretations. Results – Knowledge of cytology significantly improved the sensitivity when interpreting colposcopic images, from 51.1% [95%CI: 39.3 to 62.8] to 63.7% [95%CI: 52.1 to 73.9] and improved the specificity from 63.5% [95%CI: 52.3 to 73.5] to 76.6% [95%CI: 67.2 to 84.0]. Sensitivity was higher by 38.6% when a high-grade cytology (ASC-H, HSIL, AGC) was communicated compared to a low-grade cytology (inflammation, ASC-US, LSIL). Specificity was higher by 31% when a low-grade cytology was communicated compared to a high-grade. Conclusion – Our data suggests that knowledge of cytology increases sensitivity and specificity for diagnosis of ≥ CIN2 lesions at colposcopy. Association between cytology and histology may have contributed to the findings

Vulvar intraepithelial neoplasia grade 3 associated with Behçet's disease

Little information is available regarding the association between vulvar intraepithelial neoplasia grade 3 (VIN3) and Behçet's disease (BD). We report here concomitant VIN3 and genital ulcers in a patient with BD

Odd localisation for a gastric cancer histology

Introduction: More than 96% of signet-ring cell carcinomas occur in the stomach and the rest in other organs, including the gallbladder, pancreas, urinary bladder and breast. Primary signet-ring cell carcinoma of the colon and rectum is very rare, accounting for 0.1%–2.4% of all colorectal cancers. Presentation of case: We report a case of a 55-year old man who is operated for a caecal mass evocative of an appendicitis abscess. Intraoperatively, we discover a large, ulcerated ilio-caecal mass with several lymphadenopathies. The further workup reveals a primary signet-ring cell carcinoma of the colon with multiple lymph nodes and osteolytic bony metastases. Discussion: Primary signet-ring cell carcinoma of the colon and rectum presents usually as an advanced stage disease with a dismal prognosis. It spreads mainly to the lymph nodes and to the peritoneum and very rarely to the liver. The mean age of patients diagnosed with primary signet-ring cell carcinoma is significantly younger than for ordinary adenocarcinoma. The upper endoscopy is the investigation of choice to exclude a primary gastric pathology. There are very few reports about this type of cancer and no reports about this type of cancer associated with osteolytic bony metastases. Conclusion: The characteristics and pathophysiology of a primary signet-ring cell carcinoma of the colon and rectum are not well understood. Usually only palliative treatment is possible. The importance of an early diagnosis of this tumor is mandatory to have a curative approach

What morhological MRI features enable differentiation of low-grade from high-grade soft tissue sarcoma?

Objective: To assess the diagnostic performance of morphological MRI features separately and in combination for distinguishing low- from high-grade soft tissue sarcoma (STS). Methods and materials: We retrospectively analysed pre-treatment MRI examinations with T1, T2 with and without fat suppression (FS) and contrast-enhanced T1 obtained in 64 patients with STS categorized histologically as low (n = 21) versus high grade (n = 43). Two musculoskeletal radiologists blinded to histology evaluated MRI features. Diagnostic performance was calculated for each reader and for MRI features showing significant association with histology (p &lt; 0.05). Logistic regression analysis was performed to develop a diagnostic model to identify high-grade STS. Results: Among all evaluated MRI features, only six features had adequate interobserver reproducibility (kappa&gt;0.5). Multivariate logistic regression analysis revealed a significant association with tumour grade for lesion heterogeneity on FS images, intratumoural enhancement≥51% of tumour volume and peritumoural enhancement for both readers (p &lt; 0.05). For both readers, the presence of each of the three features yielded odds ratios for high grade versus low grade from 4.4 to 9.1 (p &lt; 0.05). The sum of the positive features for each reader independent of reader expertise yielded areas under the curve (AUCs) &gt; 0.8. The presence of ≥2 positive features indicated a high risk for high-grade sarcoma, whereas ≤1 positive feature indicated a low-to-moderate risk. Conclusion: A diagnostic MRI score based on tumour heterogeneity, intratumoural and peritumoural enhancement enables identification of lesions that are likely to be high-grade as opposed to low-grade STS. Advances in knowledge: Tumour heterogeneity in Fat Suppression sequence, intratumoural and peritumoural enhancement is identified as signs of high-grade sarcoma.</p

Giant Cell Tumor of Bone With Pseudosarcomatous Changes Leading to Premature Denosumab Therapy Interruption: A Case Report With Review of the Literature

Denosumab has shown promising results in the management of giant cell tumor of bone, a primary bone tumor with locally aggressive behaviour. We report a case of premature denosumab interruption due to radiological and clinical tumor expansion of a giant cell tumor of the distal ulna. Although denosumab is known to induce tumor regression, with progressive ossification and loss of the characteristic morphology of giant cell tumor of bone, the ulnar tumor specimen showed a moderately to highly cellular proliferation of short spindle-shaped cells, and no osteoclast-like giant cells. There were no abnormal mitotic figures. We considered the surgical specimen as a giant cell tumor of bone with partial regression after prematurely interrupted denosumab treatment. This case illustrates the diagnostic issues of an initially unfavourable evolution raising concern for malignancy, and the difficulties in histological assessment of a partially treated giant cell tumor of bone, that may mimic osteosarcoma

Unusual phosphaturic mesenchymal tumor mimicking osteoid osteoma

Phosphaturic mesenchymal tumor is a rare tumor characterized by paraneoplastic osteomalacia. The diagnosis is often delayed because of nonspecific symptoms and difficulty to localize the tumor. In this study we report a case of PMT of the left femur detected by Ga-68-DOTATATE PET-CT with radiological features mimicking osteoid osteoma. We report a 31-year-old female patient who presented to our hospital for evaluation due to progressive bone pain and muscle weakness. Her laboratory data showed hypophosphatemia and increased fibroblast growth factor 23 (FGF-23) together with reduced bone mineral density on bone densitometry. The diagnosis of PMT was suspected and the tumor was identified on Ga-68-DOTATATE PET-CT as a focal uptake in a lucent lesion of the left femoral head with a central sclerotic dot mimicking a nidus as seen in osteoid osteoma. The lesion was treated with percutaneous radiofrequency ablation. Laboratory tests and bone densitometry rapidly improved post-treatment. The present case emphasizes the difficulty to diagnose PMT due to its nonspecific biochemical and clinical presentation and the relevance of functional imaging for locating these tumors despite different radiological presentation

A cross-sectional study exploring triage of human papillomavirus (HPV)-positive women by visual assessment, manual and computer-interpreted cytology, and HPV-16/18-45 genotyping in Cameroon

High-risk human papillomavirus (HPV)-positive women require triage to identify those at higher risk of cervical intraepithelial neoplasia grade 2 or worse (CIN2+). We aimed to compare visual assessment of the cervix, manual cytology and automated cytology as triage tests to screen HPV-positive women, and to assess over-treatment rates after visual assessment and over-referral rates to colposcopy after cytology

IDH1 immunohistochemistry reactivity and mosaic IDH1 or IDH2 somatic mutations in pediatric sporadic enchondroma and enchondromatosis

Mosaic somatic mutations in the isocitrate dehydrogenase 1/2 (IDH1/2) genes have been identified in most enchondromas by targeted mutation analysis. Next-generation sequencing (NGS), that may detect even low-level mosaic mutation rates, has not previously been applied to enchondromas. Immunohistochemistry using the H09 clone is routinely used as a surrogate for the common R132H IDH1 mutation in gliomas. We compared immunohistochemistry and NGS results in a series of 13 enchondromas from 8 pediatric patients. NGS identified a heterozygous IDH mutation in all enchondromas, showing identical mutation status in patients with multiple tumors assessed, thereby confirming somatic mosaicism. A majority of the tumors harbored an IDH1 mutation (p.R132H in 3 tumors; p.R132C in 4 tumors from 2 patients; p.R132L and p.R132G in one tumor each). A p.R172S IDH2 mutation was identified in 4 enchondromas, but not in the ependymoma from one patient with Ollier disease, who further displayed a heterozygous STK11 missense mutation. IDH mutation rates varied between 14% (indicative of mutations in 28% of the cells and of intratumoral mosaicism) and 45% (tumor content was close to 100%). Cytoplasmic H09 reactivity was observed as expected in tumors with an IDH1 p.R132H mutation; cross-reactivity was seen with the p.R132L variant. This first NGS study of pediatric enchondromas confirms that IDH mutations may occur in a mosaic fashion. STK11 gene mutations may provide insights in the development of multiple cartilaginous tumors in enchondromatosis, this tumor suppressor gene having been shown in animal models to regulate both chondrocyte maturation and growth plate organization during development