Bellew Elizabeth,  Sonstegard Anna Marie,  Finelt Nika,  Goldfisher Rachelle

Final Pr. ID: Poster #: CR-004

A full-term male was born with a 7 x 7 cm subcutaneous mass with central dark blue discoloration and peripheral erythema on the right flank/buttock. Initial hip and pelvis radiograph at one day old did not show evidence of calcifications. An ultrasound demonstrated an ill-defined, heterogeneous mass with internal vascularity with invasion of underlying muscle. MRI of the abdomen and pelvis with contrast at two days of age showed a T2 hyperintense mass with mild postcontrast enhancement within the right flank with infiltration of the underlying muscles including the right psoas, iliacus, gluteal, and the left erector spinae. The differential diagnosis included: kaposiform hemangioendothelioma, rhabdomyosarcoma (RMS), tufted angioma and neuroblastoma.

Given the broad list of differential diagnoses, a core biopsy of the right buttocks was obtained at 6 days of age to further characterize the lesion. Hematoxylin and eosin stained sections demonstrated highly collagenized and sclerotic spindle cells involving the adipose tissues extending into the dermis. Immunohistochemical stained sections showed positivity to desmin, myogenin and MyoD1. Fluorescence in situ hybridization studies indicated the presence of a VGLL2 gene rearrangement. These pathologic findings were consistent with sclerosing spindle cell RMS. At 13 days old, a PET scan showed the right flank lesion with minimal to no FDG uptake, a finding which is consistent with sclerosing RMS given that this sub-type consists mainly of collagen. There were no pulmonary nodules. After multiple chemotherapy cycles, subsequent MRIs of the abdomen and pelvis showed no residual enhancing lesion. The patient will be closely followed for local recurrence.

RMS, the most common soft tissue tumor seen in children, are mesenchymal tumors of skeletal muscle and are most often seen in head and neck, but are less commonly noted on the flank. Sclerosing spindle cell RMS is a subtype often seen in childhood, but exceedingly rare in newborns. Cutaneous RMS should be considered in the differential diagnosis of a large subcutaneous lesion in a newborn. Read More

Authors:  Bellew Elizabeth , Sonstegard Anna Marie , Finelt Nika , Goldfisher Rachelle

Keywords:  Rhabdomyosarcoma, Sclerosing Spindle Cell Rhabdomyosarcoma, Vascular Malformation

Jin Annie,  Bao Shashan

Final Pr. ID: Poster #: CR-015

Rhabdomyosarcoma is a common pediatric soft tissue cancer with about 31% of cases in the urinary tract and 25% of cases in the head and neck. Although rhabdomyosarcomas are common, primary intrahepatic rhabdomyosarcomas are very rare and have a poor prognosis. In fact, there have only been 20 reported cases from 1956 through 2017, and the mean survival time of 9.25 months.

A 3-year-old male with a history of constipation presented with a 3-days of low-grade fevers of 99-100 F, periumbilical pain, and anorexia. On physical exam, there was a palpable, tender RUQ mass. Labs showed an elevated ALT of 159, AST of 179, and alkaline phosphatase of 748. A radiograph of the abdomen showed a soft tissue opacity in the right upper quadrant which displaced the large and small bowel loops. Further imaging included an ultrasound, CT, and MRI. The ultrasound confirmed a large mostly solid mass in the right hepatic lobe. CT imaging showed a large heterogeneous liver mass measuring 10.5 x 10.0 x 14.0 cm. The mass extended superiorly to the dome of the liver, involved the caudate lobe, and compressed the IVC. An indeterminate lucency of the right femoral neck was also noted. A follow up MRI showed that the liver mass displaced the hepatic veins, main portal vein and right portal vein. Additionally, innumerable lesions were found on the axial skeleton and periportal lymphadenopathy was seen suggesting metastasis. PET scan further confirmed bony metastasis of the right femur. Initially, hepatoblastoma was highest on the differential. However, liver wedge biopsy showed myxoid spindle cell areas and small round blue cell areas. These findings favored the diagnosis of rhabdomyosarcoma as opposed to hepatoblastoma which would have had an epithelial component. Bone marrow biopsy further confirmed metastasis. As a result of this diagnosis, the patient was started on vincristine, dactinomycin, cyclophosphamide. Pain was controlled with morphine and acetaminophen. Nausea was controlled with Ativan, Zofran, Reglan, and Benadryl. The patient’s abdominal distension and constipation responded well to a stool regimen and multiple enemas. The patient was discharged in stable condition with oncology follow up.

Hepatic rhabdomyosarcoma is a rare malignancy, and early diagnosis and treatment has been beneficial in prolongation of mean survival time. Diagnostic imaging modalities and pathology findings are an essential part of the work up and can be used to guide the treatment and management. Read More

Authors:  Jin Annie , Bao Shashan

Keywords:  Hepatic Rhabdomyosarcoma, Spindle Cell, Diagnostic Imaging