Novel patient-derived xenograft and cell line models for therapeutic testing of pediatric liver cancer.
Journal of Hepatology 65(2):325 (2016)
Pediatric liver cancer is a rare but serious disease whose incidence is rising, and for which the therapeutic options are limited. Development of more targeted, less toxic therapies is hindered by the lack of an experimental animal model that captures the heterogeneity and metastatic capability ...
Rapid, noninvasive quantitation of skin disease in systemic sclerosis using optical coherence elastography.
Journal of Biomedical Optics 21(4):46002 (2016)
Systemic sclerosis (SSc) is a connective tissue disease that results in excessive accumulation of collagen in the skin and internal organs. Overall, SSc has a rare morbidity (276 cases per million adults in the United States), but has a 10-year survival rate of 55%. Currently, the modified Rodna...
Childhood and adolescent tracheobronchial mucoepidermoid carcinoma (MEC): a case-series and review of the literature.
Pediatric Surgery International 32(4):417 (2016)
Tracheobronchial mucoepidermoid carcinomas (MEC) are rare in the pediatric population with literature limited primarily to case reports. Here we present our institutional experience treating MEC in three patients and review the literature of 142 pediatric cases previously published from 1968 to ...
The Emergence of Zoonotic Onchocerca lupi Infection in the United States--A Case-Series.
Clinical Infectious Diseases 62(6):778 (2016)
This case-series describes the 6 human infections with Onchocerca lupi, a parasite known to infect cats and dogs, that have been identified in the United States since 2013. Unlike cases reported outside the country, the American patients have not had subconjunctival nodules but have manifested m...
Dermatologic findings of focal dermal hypoplasia (Goltz syndrome).
American Journal of Medical Genetics. Part C: S... 172C(1):44 (2016)
Goltz syndrome, caused by mutations in PORCN, is an X-linked dominant ectodermal dysplasia which is also known as focal dermal hypoplasia. This name is derived from the predominant pathologic skin findings of the syndrome. Nineteen Goltz-affected participants attended a multidisciplinary scienti...
Risk-Based Therapy for Localized Osteosarcoma.
Pediatric Blood & Cancer 63(3):412 (2016)
The outcome of localized osteosarcoma has remained constant over the past 30 years. Histological response to preoperative chemotherapy is the best predictor of outcome. Strategies to alter treatment based on histological response have not resulted in increased survival.
Patients with localized o...
Nephron Progenitor But Not Stromal Progenitor Cells Give Rise to Wilms Tumors in Mouse Models with β-Catenin Activation or Wt1 Ablation and Igf2 Upregulation.
Neoplasia 18(2):71 (2016)
Wilms tumor, a common childhood tumor of the kidney, is thought to arise from undifferentiated renal mesenchyme. Variable tumor histology and the identification of tumor subsets displaying different gene expression profiles suggest that tumors may arise at different stages of mesenchyme differen...
Primitive Myxoid Mesenchymal Tumor of Infancy Involving Chest Wall in an Infant: A Case Report and Clinicopathologic Correlation.
Pediatric and Developmental Pathology 19(3):244 (2016)
Primitive myxoid mesenchymal tumor of infancy (PMMTI) is a rare mesenchymal tumor of early childhood characterized by aggressive local infiltration of surrounding structures, rare metastases, and poor response to chemotherapy. Surgery alone appears to be the most effective treatment given the la...
Mucoepidermoid Carcinoma in Children: A Single Institutional Experience.
Pediatric Blood & Cancer 63(1):27 (2016)
To determine the clinicopathologic and molecular features and outcome of children with mucoepidermoid carcinoma (MEC).
A retrospective analysis of clinical and histopathologic findings was performed in patients with MEC diagnosed at Texas Children's Cancer Center between 2000 and 2014.
Loss of Runx2 sensitises osteosarcoma to chemotherapy-induced apoptosis.
British Journal of Cancer 113(9):1289 (2015)
Osteosarcoma (OS) is the most common bone malignancy in the paediatric population, principally affecting adolescents and young adults. Minimal advancements in patient prognosis have been made over the past two decades because of the poor understanding of disease biology. Runx2, a critical transc...
Management of appendiceal carcinoid tumors in children.
Journal of Surgical Research 198(2):384 (2015)
Appendiceal carcinoid tumors, also know as well-differentiated neuroendocrine neoplasms, are rare lesions detected incidentally after appendectomy in children. There are limited data about the natural history of these tumors, and guidelines regarding family counseling and need for additional sur...
Persistent cat scratch disease requiring surgical excision in a patient with MPGN.
Pediatrics 135(6):e1514 (2015)
We present the case of a 13-year-old immunosuppressed patient with unrelenting cat scratch disease despite 9 months of antibiotic therapy. The patient was being treated with mycophenolate and prednisone for membranoproliferative glomerulonephritis (type 1) diagnosed 13 months before the onset of...
BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children.
Modern Pathology 28(4):575 (2015)
The BCOR-CCNB3 fusion gene, resulting from a chromosome X paracentric inversion, was recently described in translocation-negative 'Ewing-like' sarcomas arising in bone and soft tissue. Genetic subclassification of undifferentiated unclassified sarcomas may potentially offer markers for reproduci...
Elevated placental adenosine signaling contributes to the pathogenesis of preeclampsia.
Circulation 131(8):730 (2015)
Preeclampsia is a prevalent hypertensive disorder of pregnancy and a leading cause of maternal and neonatal morbidity and mortality worldwide. This pathogenic condition is speculated to be caused by placental abnormalities that contribute to the maternal syndrome. However, the specific factors a...
BRAF-V600E expression in precursor versus differentiated dendritic cells defines clinically distinct LCH risk groups.
Journal of Experimental Medicine 212(2):281 (2015)
High titer anti-basement membrane antibodies in a subset of patients with pediatric systemic lupus erythematosus.
American Journal of Nephrology 41(3):241 (2015)
There is a critical need for more noninvasive biomarkers to identify nephritis in patients with systemic lupus erythematosus (SLE). Recent studies in a model mouse and an adult SLE patient cohort suggest that anti-basement membrane antibody levels correlate well with lupus activity and kidney in...
Association of immunohistochemical markers with premalignancy in Gonadal Dysgenesis.
International Journal of Pediatric Endocrinology 2015(1):14 (2015)
Gonadal dysgenesis (GD) is associated with increased risk of gonadal malignancy. Determining a patient's risk and appropriate timing of gonadectomy is challenging, but immunohistochemical markers (IHM) may help establish the diagnosis of malignant germ cell tumors (GCT). Our objective was to ide...
Further evidence that human acellular dermal matrix decreases inflammatory markers of capsule formation in implant-based breast reconstruction.
Aesthetic Surgery Journal 35(1):40 (2015)
Human acellular dermal matrix (HADM; previously termed "acellular cadaveric dermis") may limit inflammatory changes believed to play a role in capsular contracture, a common complication of implant-based breast reconstruction.
Differences between HADM and native breast capsule specimens were eva...
Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney.
Nature Communications 6:8891 (2015)
The X-linked BCL-6 co-repressor (BCOR) gene encodes a key constituent of a variant polycomb repressive complex (PRC) that is mutated or translocated in human cancers. Here we report on the identification of somatic internal tandem duplications (ITDs) clustering in the C terminus of BCOR in 23 of...
Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis.
Blood 124(19):3007 (2014)
Langerhans cell histiocytosis (LCH) is a myeloproliferative disorder characterized by lesions composed of pathological CD207(+) dendritic cells with an inflammatory infiltrate. BRAFV600E remains the only recurrent mutation reported in LCH. In order to evaluate the spectrum of somatic mutations i...