Targeted Next Generation Sequencing (NGS) to Diagnose Hereditary Hemolytic Anemias.

Hereditary hemolytic anemias present a unique diagnostic challenge due to their wide phenotypic and genotypic spectrum. Accurate diagnosis is essential to ensure appropriate treatment. We report two cases, which presented as hemolytic anemias, but initial workup was inconclusive and they were finally diagnosed with the help of Next Generation Sequencing (Dehydrated Hereditary Stomatocytosis and KÓ§ln Hemoglobinopathy). The introduction of gene sequencing to aid diagnosis of these disorders is a revolutionary step forward and should be incorporated earlier in the workup of such patients.

Pediatric Inflammatory Myofibroblastic Tumors of the Airway: Two Case Reports with Varying Clinical Presentation.

INTRODUCTION: An inflammatory myofibroblastic tumor (IMT) is a rare tumor of intermediate malignant potential. It may occur in a wide range of anatomical locations. One-third are found in the respiratory tract. We report two cases of IMT of the airway diagnosed at our institution. CASE REPORT: Case 1: A 6-year-old male child presented with a 1-month history of hoarseness of the voice. On evaluation, a polypoid nodule was noted in the right vocal cord which was excised through the endolaryngeal route. Histopathology was suggestive of anaplastic lymphoma kinase (ALK)-negative IMT. He presented with recurrence after 4 months, for which he underwent endolaryngeal reexcision and tracheostomy for airway protection. A third recurrence after 6 months was managed with laser excision, and the patient was started on oral celecoxib. After 1.5 years of follow up, endoscopic examination showed no recurrence, and celecoxib was continued. Case 2: A 7-year-old male child presented with cough and respiratory distress. Bronchoscopy and high resolution computed tomography showed a polypoidal lesion with calcification arising from the left anterolateral wall of the trachea with significant narrowing of the lumen. The patient underwent biopsy followed by endoscopic excision, and was diagnosed with IMT. Currently the patient is under follow up with no recurrence. CONCLUSION: IMT indicates a proliferative myofibroblastic growth. Surgical resection should be recommended for all lesions if not prohibited by anatomic location or morbidity. Patients should be followed up closely for recurrence. In most cases, complete surgical excision will suffice; however multiple recurrences can be managed with chemotherapy. These two cases highlight the importance of a multidisciplinary approach in rare tumors in difficult anatomical locations.