Coleman Jay,  Collard Michael,  Pfeifer Cory

Final Pr. ID: Poster #: EDU-087

Molecular biology has come to the forefront of modern oncology. Knowledge of specific genetic mutations within tumors drives prognostic information and can guide therapy. Keeping up with new terminology in oncology can be difficult for pediatric radiologists who often host oncology conferences and present regularly at grand rounds. The purpose of this educational exhibit is to describe DICER1 syndrome and discuss its implications for pediatric radiology. Read More

Authors:  Coleman Jay , Collard Michael , Pfeifer Cory

Keywords:  cystic nephroma, DICER1, pleuropulmonary blastoma

Poletto Erica,  Fox Evan,  Malik Archana,  Geller Evan

Final Pr. ID: Poster #: CR-020

Hypertrophic pulmonary osteoarthropathy (HPOA) is a syndrome characterized by excessive proliferation of skin and bone in the distal extremities. The classic imaging finding is symmetric, smooth periosteal reaction of the bones of the forearm or lower leg. The pathogenesis of this new bone formation is not well understood. Proposed mechanisms include growth factor release mediated by the tumor itself or the shunting of megakaryocytes through the pulmonary vasculature. These growth factors may contribute to vascular proliferation and bone formation. HPOA can be idiopathic but is more commonly secondary in patients with a variety of pulmonary disorders, congenital heart disease, and inflammatory bowel disease. HPOA is more commonly seen in adults than children. We present a case of HPOA in a patient with pleuropulmonary blastoma, a rare pediatric intrathoracic tumor.


A 3 year-old girl was diagnosed with pleuropulmonary blastoma after presenting to the emergency department with a twelve-day history of fever and leg pain. As part of a fever of unknown origin workup, chest radiographs were performed, which showed a large left lower lobe mass. Contrast-enhanced computed tomography characterized the mass as mixed cystic and solid. As part of the preoperative evaluation for osseous metastatic disease, a technetium-99m bone scan was performed, which revealed bilateral, symmetric radiotracer uptake within the ulnar and fibular shafts, and the distal humeri. Subsequent radiographs of these bones demonstrated bilateral, symmetric smooth periosteal reaction. Following surgical resection of the pleuropulmonary blastoma and completion of chemotherapy, a bone scan was repeated which showed resolution of the previously seen scintigraphic findings.

To date, HPOA has never been reported in a patient with pleuropulmonary blastoma. This case report highlights that HPOA, commonly thought of as an entity of adult lung disease, can also present in children. Read More

Authors:  Poletto Erica , Fox Evan , Malik Archana , Geller Evan

Keywords:  Hypertrophic Pulmonary Osteoarthropathy, Pleuropulmonary Blastoma

Tijerin Bueno Marta,  De La Puente Gregorio Alejandro,  Martinez-rios Claudia,  Malkin David,  Greer Mary-louise

Final Pr. ID: Poster #: SCI-045

To determine the spectrum of abnormalities associated with DICER1 syndrome.
To review imaging studies performed in oncologic staging and surveillance.
To delineate the screening protocol used in those with positive genetic testing. Read More

Authors:  Tijerin Bueno Marta , De La Puente Gregorio Alejandro , Martinez-rios Claudia , Malkin David , Greer Mary-louise

Keywords:  DICER1, Pleuropulmonary blastoma, pineoblastoma, cystic nephroma

Lee Ruri,  Gerard Perry,  Sandoval Claudio

Final Pr. ID: Poster #: CR-055

DICER1 is an RNA endoribonuclease that plays a role in the biogenesis of microRNAs (miRNAs). These miRNAs regulate gene expression by suppressing the translation of messenger RNA (mRNA) into proteins. Dysfunction of this mRNA suppression can result in oncogenic transformation. Patients with germ-line mutations of the DICER1 gene are predisposed to the development of certain organ-based childhood neoplasms such as pleuropulmonary blastoma (PPB), cystic nephroma (CN), nasal chondromesenchymal hamartoma (NCMH), and other rare tumors.

Our case report describes a patient who presented with multiple primary tumors consistent with DICER1 syndrome but tested negative for germ-line DICER1 mutation. Somatic DICER1 mutation with resultant mosaicism resulting in this phenotypic presentation has been recently described (de Kock et al. J Med Genet 2015); however, this DICER1 mosaicism is an extremely rare phenomenon with very few cases reported in literature. Here we describe the radiographic manifestations of a patient with such mosaicism of DICER1.

Our patient was initially diagnosed with pulmonary cystic lesions on prenatal ultrasound. Initial non-contrast CT of the thorax was performed on the first day of life and showed cystic lesions in both the right middle and lower lobes. A predominant lesion in the right middle lobe contained multiple cystic and possibly solid components (Figure 1). The patient subsequently underwent right middle lobe cyst resection with a final pathologic diagnosis of Type I PPB.

At nine months of age, the patient experienced repeated episodes of intussusception. Colonoscopy showed multiple polyps that were removed and returned benign pathology. At two years of age, the patient was diagnosed with Type II PPB. MRI of the brain was performed at that time, which showed large hemorrhagic metastases in the brain (Figure 2). He underwent multiple brain mass resections as well as chemotherapy, radiation therapy, and stem cell transplant. Additionally, he was diagnosed with NCMH at 8 years of age.

Although our patient presented with multiple primary tumors that are characteristic of DICER1 germ-line mutation, genetic testing for germ-line DICER1 mutation yielded negative results. As this case illustrates, for patients presenting with this constellation of radiographic findings and pathologic diagnoses of characteristic rare organ-based neoplasms, further genetic testing for somatic DICER1 mutation mosaicism is necessary. Read More

Authors:  Lee Ruri , Gerard Perry , Sandoval Claudio

Keywords:  pleuropulmonary blastoma