ABSTRACT
Every child should have a baseline hematology evaluation with hemoglobin and hematocrit levels starting at age 12 months, or younger if clinically indicated. Although history and physical examination provide key information needed to diagnose blood disorders, the addition of a complete blood count (CBC) with differential count and reticulocyte count allows the clinician to narrow the differential diagnosis and tailor the subsequent evaluation. The interpretation of CBC results is a skill that requires practice. Every clinician can learn to identify possible diagnoses before consulting a specialist. This review provides a step-by-step approach for CBC interpretation with tools to help the clinician diagnose and interpret the most common blood disorders seen in the general pediatric clinic or inpatient setting.
Subject(s)
Pediatricians , Physical Examination , Child , Humans , Infant , Diagnosis, Differential , Referral and ConsultationABSTRACT
BACKGROUND: Wilms tumor (WT) is the most common childhood kidney cancer worldwide, yet its incidence and clinical behavior vary according to race and access to adequate healthcare resources. To guide and streamline therapy in the war-torn and resource-constrained city of Baghdad, Iraq, we conducted a first-ever molecular analysis of 20 WT specimens to characterize the biological features of this lethal disease within this challenged population. METHODS: Next-generation sequencing of ten target genes associated with WT development and treatment resistance (WT1, CTNNB1, WTX, IGF2, CITED1, SIX2, p53, N-MYC, CRABP2, and TOP2A) was completed. Immunohistochemistry was performed for 6 marker proteins of WT (WT1, CTNNB1, NCAM, CITED1, SIX2, and p53). Patient outcomes were compiled. RESULTS: Mutations were detected in previously described WT "hot spots" (e.g., WT1 and CTNNB1) as well as novel loci that may be unique to the Iraqi population. Immunohistochemistry showed expression domains most typical of blastemal-predominant WT. Remarkably, despite the challenges facing families and care providers, only one child, with combined WT1 and CTNNB1 mutations, was confirmed dead from disease. Median clinical follow-up was 40.5 months (range 6-78 months). CONCLUSIONS: These data suggest that WT biology within a population of Iraqi children manifests features both similar to and unique from disease variants in other regions of the world. These observations will help to risk stratify WT patients living in this difficult environment to more or less intensive therapies and to focus treatment on cell-specific targets.
Subject(s)
Kidney Neoplasms/genetics , Kidney Neoplasms/metabolism , Wilms Tumor/genetics , Wilms Tumor/metabolism , Adaptor Proteins, Signal Transducing/genetics , Apoptosis Regulatory Proteins , Child, Preschool , DNA Topoisomerases, Type II/genetics , Female , Homeodomain Proteins/genetics , Homeodomain Proteins/metabolism , Humans , Immunohistochemistry , Infant , Insulin-Like Growth Factor II/genetics , Iraq , Kidney Neoplasms/pathology , Male , Multiplex Polymerase Chain Reaction , Mutation , N-Myc Proto-Oncogene Protein/genetics , Nerve Tissue Proteins/genetics , Nerve Tissue Proteins/metabolism , Neural Cell Adhesion Molecules/metabolism , Nuclear Proteins/genetics , Nuclear Proteins/metabolism , Poly-ADP-Ribose Binding Proteins/genetics , Receptors, Retinoic Acid/genetics , Sequence Analysis, DNA/methods , Trans-Activators , Transcription Factors/genetics , Transcription Factors/metabolism , Tumor Suppressor Protein p53/genetics , Tumor Suppressor Protein p53/metabolism , Tumor Suppressor Proteins/genetics , WT1 Proteins/genetics , WT1 Proteins/metabolism , Wilms Tumor/pathology , beta Catenin/genetics , beta Catenin/metabolismABSTRACT
Editor's Note.-RadioGraphics continues to publish radiologic-pathologic case material selected from the American Institute for Radiologic Pathology (AIRP) "best case" presentations. The AIRP conducts a 4-week Radiologic Pathology Correlation Course, which is offered five times per year. On the penultimate day of the course, the best case presentation is held at the American Film Institute Silver Theater and Cultural Center in Silver Spring, Md. The AIRP faculty identifies the best cases, from each organ system, brought by the resident attendees. One or more of the best cases from each of the five courses are then solicited for publication in RadioGraphics. These cases emphasize the importance of radiologic-pathologic correlation in the imaging evaluation and diagnosis of diseases encountered at the institute and its predecessor, the Armed Forces Institute of Pathology (AFIP).
Subject(s)
Desmoplastic Small Round Cell Tumor/diagnostic imaging , Desmoplastic Small Round Cell Tumor/pathology , Kidney Neoplasms/diagnostic imaging , Kidney Neoplasms/pathology , Tomography, X-Ray Computed , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Child , Combined Modality Therapy , Contrast Media , Desmoplastic Small Round Cell Tumor/therapy , Diagnosis, Differential , Humans , Kidney Neoplasms/therapy , Male , Neoplasm Metastasis , Neoplasm StagingABSTRACT
Tenosynovial chondromatosis is a benign chondrogenic metaplasia of extra-articular synovial tissue. The most common locations for tenosynovial chondromatosis to develop are the hands and feet. The condition has rarely been reported in children. We present a case of tenosynovial chondromatosis of the flexor hallucis longus in a 17-year-old girl. The presentation was unusual not only due to the location and young age of the patient but also the absence of any palpable mass on physical exam and complete lack of calcification of the cartilage bodies. Initial diagnosis was made by MRI. The patient underwent tenosynovectomy with an excellent postoperative recovery at 6-month follow-up. Histopathology confirmed the diagnosis of tenosynovial chondromatosis.
