The Spectacular RhoC Trick May Well Fool Every One

2F). She had normal 17-OH progesterone (>25?ng/dl, normal 40�C200) and elevated 17-OH pregnenolone (>4,000?ng/dl, normal RhoC a limited autopsy was performed in which massive hepatomegaly was noted. By gross examination, the adrenal mass was initially considered to be a neuroblastoma. However, histologic analysis revealed adrenocortical hyperplasia, disorganized adrenal dysplasia, severe adrenal fetal cortical cytomegaly with atypical polyhedral cells containing eosinophilic granular cytoplasm and large hyperchromatic nuclei with pseudoinclusions. There was no fatty change or migrating neuroblasts. A large paraovarian and paratubal ectopic nodule noted on autopsy was identified by histology as an adrenal nodule of Marchand with disorganized adrenal dysplasia. These findings were consistent with adrenal cortical hyperplasia rather than neuroblastoma. Pathology of the pancreas demonstrated pancreatomegaly of the body and tail and dysplasia, with massive overgrowth of disorganized neuroendocrine tissue consistent with islet cell hyperplasia and a relative paucity of acini and ducts. The neuroendocrine cells stained positive for insulin selleck screening library and p57 and negative for chromograffin similar to control neuroendocrine cells. The detection of p57 in the pancreas suggests there is incomplete imprinting in the pancreas or there is less GWpUPD in the sections of the pancreas that were stained for histology compared to the pancreatic sample tested by SNP array. There was no known examination of the placenta. MS-MLPA analysis of skin demonstrated possible pUPD for 11p15.5. SNP array analysis demonstrated 10% mosaic GWpUPD in skin, 85% in pancreas, and 95% in adrenal mass (Table I). Here we describe clinical and molecular features of three subjects with mosaic GWpUPD. see more To further understand the clinical features and management, we performed a review of the literature and found 10 previously reported cases of live-born mosaic GWpUPD [Hoban et al., 1995; Bryke et al., 2004; Giurgea et al., 2006; Reed et al., 2008; Wilson et al., 2008; Romanelli et al., 2011; Yamazawa et al., 2011; Gogiel et al., 2012; Inbar-Feigenberg et al., 2013] (Table II). As one would expect with paternal UPD that includes the sex chromosomes, all patients are 46,XX females. Furthermore, these cases clarify that the predominant phenotype seen in GWpUPD is that of BWS caused by pUPD11 (12/13) with HH (10/13) and HI (11/13). Paternal UPD14 was suggested in three individuals and Subject 1 in our cohort has a bell-shaped thorax [Bryke et al., 2004; Yamazawa et al., 2011; Gogiel et al., 2012].