Novel neuropathologic findings in the Haddad syndrome.

Haddad syndrome (congenital central hypoventilation syndrome and Hirschsprung's disease) is a rare disorder for which in-depth neuropathologic analysis is lacking. We report the brain findings in a full-term male infant with Haddad syndrome who died at 27 days of life. Bilateral hypoplasia of the superior temporal lobe and gyral anomalies in the frontal cortex were present. Immunohistochemistry with an antibody to tyrosine hydroxylase (noradrenaline synthesis) demonstrated hypoplasia of the locus coeruleus (implicated in chemoreception) and A5 region. Other findings included delayed maturation of the arcuate nucleus (putative human homologue of ventral medullary neurons in animals critical for chemoreception) and aberrant fascicles in the nucleus of the solitary tract. Efforts to determine the putative gene mutation were unsuccessful. This study implicates novel brain findings in Haddad syndrome mimicking those in murine Phox2b null mutants. This case suggests that abnormalities occur in CCHS in a network of sites critical to chemoreception.

Solid pseudopapillary tumor in a pancreatic rest of the jejunum.

Solid pseudopapillary tumors of the pancreas (SPTP) are very rare, and an SPTP arising in a pancreatic rest has been reported only 4 times previously and never in association with the jejunum. We report this unusual case of a 16 year old girl who presented with 4 days of intermittent, crampy abdominal pain and was found to have an SPTP arising in a pancreatic rest of the jejunum.

Cytologic diagnosis of Ewing sarcoma/peripheral neuroectodermal tumor with paired prospective molecular genetic analysis.

BACKGROUND: Ewing sarcoma/peripheral neuroectodermal tumor (EWS/PNET), since its characterization immunophenotypically and cytogenetically, has emerged as one of most common sarcomas of childhood. Currently, it is recognized that EWS/PNET can occur in any number of extraosseous sites and is one of several distinctive tumor types with an EWS translocation. In the past, the pathologic diagnosis of EWS/PNET relied on an open biopsy with the application of various ancillary studies, ranging from periodic acid-Schiff stain to molecular testing, but the tumor increasingly is diagnosed on the basis of cytologic specimens alone. METHODS: The authors report 3 cases of EWS/PNET in patients aged 11 years to 53 years. These 3 patients had tumors that involved the parotid gland, cervical soft tissue, and pelvis, and were diagnosed by cytologic evaluation of fine-needle aspiration (FNA) biopsy material alone. The FNA materials also were evaluated prospectively by fluorescence in situ hybridization and/or reverse transcriptase-polymerase chain reaction. RESULTS: The results emphasized the diagnostic utility of FNA biopsy material for morphologic and molecular analysis without compromising conventional cytologic and immunocytochemical analysis, and that prospective molecular testing of FNA specimens has utility in routine practice although it is subject to many of the same limitations that impact molecular analysis when applied to conventional tissue biopsy specimens. CONCLUSIONS: The current results demonstrated that molecular genetic techniques can provide clinically useful ancillary information for FNA specimens when cytologic features and/or immunophenotype are equivocal on the basis of limited sampling or secondary changes, such as hemorrhage and/or necrosis.