Hanna Carolyn,  Rajderkar Dhanashree,  Baxi Ameya,  Sharma Priya

Final Pr. ID: Poster #: EDU-022

In this educational exhibit we plan:
1. To identify and illustrate the spectrum of blastomas on various imaging modalities
2. To review the pathogenesis of these tumors
3. To describe and illustrate the typical and atypical imaging appearances and organ-wise differential diagnosis Read More

Authors:  Hanna Carolyn , Rajderkar Dhanashree , Baxi Ameya , Sharma Priya

Keywords:  Blastomas, Rare neoplasms, Primitive tissues

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

Hammer Matthew,  Kim Joseph,  Shukla Neal,  Tu Long,  Rao Balaji

Final Pr. ID: Poster #: CR-062

Pleuropulmonary blastoma represents a rare, primary pulmonary malignancy with an incidence of 25-50 cases a year within the United States (Knight 2019). In children under 6 years of age, it is the most common primary pulmonary malignancy, comprising approximately 25% of cases (Dehner 2019). It is an autosomal-dominant condition associated with the DICER1-related tumor susceptibility syndrome. This syndrome includes other neoplastic etiologies such as Sertoli-Leydig tumors of the ovary and cystic nephroma. It is usually diagnosed in childhood, as early as months after birth, and can be subdivided into three types based on tumor composition: cystic, mixed cystic and solid, and solid. The disease is believed to start as a cystic lesion that progressively becomes more solid over time, with morbidity/mortality outcomes directly tied to time of diagnosis.

Our patient was a 2-month-old female, with a known family history of DICER1 mutation in the mother, who presented to the hospital for projectile vomiting. Abdominal ultrasound revealed ileocolic intussusception, which was confirmed to be secondary to an ileal hamartoma on surgical small bowel resection. Subsequent genetic testing confirmed the presence of DICER1 mutation. Follow up CT chest at 6-months-old showed a right lower lobe multi-septate 2.1 x 2.0 cm cystic lesion as well as an adjacent sub-centimeter cystic lesion suspicious for type 1 pleuropulmonary blastoma versus congenital pulmonary airway malformation (CPAM). A multi-disciplinary conference opted for right lower lobectomy given the risk of the lesion. Pathology confirmed type 1 pleuropulmonary blastoma. Subsequent retroperitoneal and pelvic ultrasounds were negative for renal or ovarian abnormality.

Pleuropulmonary blastoma is an exceedingly rare diagnosis that is easily overlooked or misdiagnosed as benign etiology such as CPAM. It is important to note that any pulmonary cystic lesion in a pediatric patient warrants interval follow-up for continued assessment of the lesion. If a pulmonary cystic lesion is identified, subsequent renal and pelvic imaging should be obtained to rule out other lesions that may co-exist as part of a genetic syndrome such as DICER1. Timely diagnosis is critical as it directly influences patient mortality/morbidity. Read More

Authors:  Hammer Matthew , Kim Joseph , Shukla Neal , Tu Long , Rao Balaji

Keywords:  Pleuropulmonary Blastoma, Thoracic

Stephen Steve,  Carlock Hunter,  Chen Irene,  Chaturvedi Apeksha

Final Pr. ID: Poster #: CR-060

A 3-year-old male presented to the emergency department with a 3-day history of wheezing, dyspnea, and mild hypoxia. Patient was afebrile with diminished left-sided breath sounds. Chest radiograph demonstrated expansile opacification of left upper lung, raising concern for pneumonia and prompting ceftriaxone administration. Patient did not improve on antibiotics, and laboratory findings remained inconclusive for infection. A contrast-enhanced chest CT revealed a large left upper lung mass with associated airway compression and atelectasis. Subsequent biopsy and histology initially proposed unspecified sarcoma and malignant spindle cell neoplasm; later refined to pleuropulmonary blastoma (PPB) type III. Fluorodeoxyglucose (FDG) PET-MRI and bone marrow biopsy confirmed localized disease. Molecular genetic testing revealed DICER1 mutation. Patient completed 12 cycles of IVADo (ifosamide, vincristine, actinomycin-D, and doxorubicin) chemotherapy and underwent left lung pneumonectomy, now 2 years in remission.

PPB is a rare embryonal lung neoplasm in children (ages 0-6) classified into cystic (type I/Ir), mixed cystic and solid (type II), and purely solid (type III). Pathogenic germline DICER1 variations have been seen in PPB, as well as cystic nephroma, botryoid-type embryonal rhabdomyosarcoma, and ovarian sex cord-stromal tumors. Diagnosis of PPB can be initially challenging as they may present as pneumonia with nonspecific respiratory symptoms including dyspnea, chest pain, cough, and fever. Pathologic subtype is the only independent prognostic factor (with types II and III having worse outcomes). Treatment varies depending on the type and location of PPB. Given this tumor’s aggressive nature, accurate diagnosis and early treatment with surgical resection and/or concurrent chemotherapy is critical. Read More

Authors:  Stephen Steve , Carlock Hunter , Chen Irene , Chaturvedi Apeksha

Keywords:  Oncology, Thoracic, Blastomas

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