SPR Unknown case # 104 -- FINAL

Edward Richer, MD

University of Kentucky


Publication Date: 2014-01-30

History

2 month old female with left side Horner’s syndrome (ptosis) and left arm weakness for 9 days, small (2 cm) palpable mass in left neck noticed by parents on day of presentation.

Findings

Chest radiograph: Multiple large masses in both lungs and left apical mass/opacity.

Neck ultrasound: Large, heterogeneous, solid vascular mass in left neck base which displaces the left common carotid artery medially. No cystic component.

Neck MRI: Large, heterogeneously enhancing, T2 bright mass extending from aortic arch through thoracic inlet and into the left neck base and axilla. The origins of the left common carotid and subclavian arteries are encased by tumor. There is intraspinal extension of tumor through a left neuroforamen at the cervicothoracic junction with compression of the spinal cord.

Chest CT: Faint calcification within the tumor. Multiple large metastases.

Abdominal/Pelvic CT: No disease. Specifically, no hepatic or renal tumors.

Diagnosis

Extra-renal rhabdoid tumor

Discussion

Differential Diagnosis: Neuroblastoma, rhabdomyosarcoma, other sarcoma, lymphoma

Discussion: Malignant rhabdoid tumors (MRTs) are rare and among the most lethal of pediatric neoplasms. First described in the kidney, these tumors were initially thought to be a variant of Wilms tumor. MRTs have subsequently been described in the brain (atypical teratoid/rhabdoid tumor) and a number of other body sites, including the liver, neck, chest, pelvis, and extremities. MRTs typically occur in infancy, with a median patient age of 20 months, and have a 1.5:1 male predilection. Prognosis is grim, with metatstatic disease often present at diagnosis and a median survival of 6 months after diagnosis.

Imaging features of extra-renal, non-CNS MRTs are poorly described due to the rarity of these tumors. The largest series was described by Garces-Inigo, et al, which included 9 cases. No specific imaging features were found for MRTs, however there was a tendency toward large size, mediastinal/paravertebral presentation, hypodense solid component on CT, and heterogeneous T2 hyperintensity on MR. The tumor may show calcification, and as noted above, often has metastatic disease at presentation, particularly to lungs or liver.

Conclusion: Extra-renal rhabdoid tumors are extremely rare, lethal neoplasms of young children that should be considered in the differential for any large, aggressive tumor presenting with metastatic disease.

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References

  1. Garces-Inigo EF, et al. Extrarenal rhabdoid tumors outside the central nervous system in infancy. Pediatric Radiology. 2009 Aug; 39(8):817-822.
  2. Abdullah A, et al. Extrarenal malignant rhabdoid tumors: radiologic findings with histopathologic correlation. Cancer Imaging. 2010; 10(1):97-101.
  3. Geller JI. Malignant rhabdoid tumor. Published online http://emedicine.medscape.com/article/993084-overview. Accessed January 29, 2014.

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