Chronic diarrhea and facial dysmorphism in children--a clue to men 2B syndrome: a case report.
Medullary thyroid cancer (MTC) is a highly malignant tumor of the thyroid gland in children, rarely diagnosed and treated by pediatric oncologists. The authors describe a 9-year-old male who presented with facial dysmorphism and history of chronic diarrhea before being diagnosed with advanced MTC. Familiarity with its clinical variants, associated RET protooncogene mutation and its clinical implication, can lead to early identification of this aggressive tumor. To date, surgery remains the only definitive therapy, with continuing dismal prognosis in metastatic disease. However, evolving newer therapeutic strategies like tyrosine kinase inhibitors and pretargeted radioimmunotherapy (pRAIT) may provide hope to children with this aggressive tumor.
Khatua
Soumen
S
Department of Pediatrics, University School of Medicine, Las Vegas, Nevada 89135, USA. soumenkhatua@aol.com
Bilodeau
Laura L
LL
D002648:Child; D002908:Chronic Disease; D003967:Diarrhea / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000601:surgery*; D005145:Face / Q000002:abnormalities*; D006801:Humans; D008297:Male; D018814:Multiple Endocrine Neoplasia Type 2b / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000601:surgery*; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics / Q000378:metabolism; D013577:Syndrome; D013964:Thyroid Neoplasms / Q000150:complications / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000601:surgery*
D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human