ABSTRACT
Introduction: Core needle biopsies of solid masses in children are a minimally invasive technique. It guides to a definitive diagnosis and facilitates management. Aims and Objectives: To determine the accuracy, sensitivity, and specificity of core needle biopsies in diagnosing pediatric solid masses. Materials and Methods: A retrospective analysis of 430 children, who underwent core needle biopsy for solid masses between January 2007 and December 2016 at CMC Vellore, was done. Results: Retroperitoneal and intra-abdominal masses constituted 66% of cases. Real-time image guidance was used in 44% of cases. An accurate diagnosis was obtained in 93.6% of cases, while results did not correlate with the final diagnosis in 3.4%. Three percent had inadequate or necrotic tissue. None of the children had postprocedure complications. Conclusion: Core needle biopsies serve as good diagnostic modality, with minimal risks, in making a conclusive diagnosis and deciding on the line of management.
ABSTRACT
Constitutional mismatch repair deficiency (CMMRD) syndrome results from bi-allelic mutations in DNA mismatch repair genes-MLH1, MSH2, MSH6, or PMS2. We present two siblings with CMMRD having p.Arg802Ter (c.2404C >T) homozygous mutations in PMS2 exon 14 with typical cutaneous features. This case report highlights the role of the dermatologist in early diagnosis of this condition.
Subject(s)
Brain Neoplasms , Hair Diseases , Neoplastic Syndromes, Hereditary , Pilomatrixoma , Skin Neoplasms , Brain Neoplasms/diagnosis , Brain Neoplasms/genetics , Colorectal Neoplasms , Hair Diseases/diagnosis , Hair Diseases/genetics , Humans , Mutation , Neoplastic Syndromes, Hereditary/diagnosis , Neoplastic Syndromes, Hereditary/genetics , Pilomatrixoma/diagnosis , Pilomatrixoma/genetics , Skin Neoplasms/diagnosis , Skin Neoplasms/geneticsABSTRACT
PURPOSE: To evaluate the time required for effective action of phenol against the giant cell tumour (GCT) cells. METHODS: Fresh GCT cells were harvested from 9 patients with primary GCT of the distal femur (n=4), proximal tibia (n=4), and proximal humerus (n=1), with the Campanacci tumour grades 3 (n=6), 2 (n=2), and 1 (n=1). Specimens were immersed in 80 % phenol for one, 3, 6, and 10 minutes, and were assessed by a single pathologist for irreversible cell death and the depth of phenol penetration. RESULTS: Phenol caused consistent GCT cell death in 6 of the 9 specimens after 3 minutes and in all 9 specimens after 6 minutes, compared to none in controls (p<0.0001). The mean depths of phenol penetration were 15 (range, 11-20) and 19 (range, 15-25) cell thickness after 6 and 10 minutes, respectively (p<0.0001). CONCLUSION: GCT cells immersed in 80% phenol for 6 minutes resulted in consistent cell death.
