Wednesday, August 5, 2015

Follow-up screening in neurocutaneous disease

Of the plethora of patients with tuberous sclerosis or neurofibromatosis I have seen since 1984, I can recall no one found to have an actionable new abnormality (aside from generating further imaging) on an MRI or other imaging study done for follow-up screening purposes.

See, however, Ventriculomegaly in NF 5/18/15.  Neither of these siblings has to date had any intervention aside from further imaging.  Also, see Renal disease in tuberous sclerosis 4/24/15.  Also,
Magnetic resonance imaging screening for optic pathway gliomas in children with neurofibromatosis type 1 8/3/15.

Another case of note.

An 8 year old girl with neurofibromatosis received orthopedics evaluation for leg length discepancy and scoliosis.  A spinal x-ray was obtained which showed an enlarged ilium on the right side with scalloping of the lateral border of the ilium just above the acetabulum. Also noted were some lytic areas in the greater trochanter worse on the right side than on the left side. There was possibly some elongation of the femoral neck on the right side. The width of the ilium was definitely narrower in the supraacetabular area on the right side than on the left side. There was no acetabular dysplasia and the femoral head was round and normal, although the size of the femoral head was enlarged on the right side compared to the left side. There were no isolated vertebral abnormalities. Associated with the enlarged ilium was an asymmetry of the pelvis which lead to an obliquity at S1. There was a compensatory lumbar curve above that to the left that results in overall good balance despite the pelvic obliquity described above. There were no dysplastic abnormalities noted in the spine, clavicles, scapulae, or the upper end of the humerus as visualized on these x-rays.

An MRI of the pelvis showed stable irregularity of the right iliac cortext dating back 2 years with small adjacent nerve sheath tumors likely acounting for the focal saucerization.  The MRI demonstrated a tumor between the iliac bone and gluteus medius measuring 3.8 x 1.2 x 2.9 cm and a tumor between the gluteus minimus and medius muscle, measuring 1 x 1 x 2.8 cm. Of note, the irregularity of the right iliac cortex dated back at least as far as December of 2004. There were additional enhancing nerve sheath tumors related to the gluteal musculature on the right.

Four years later, the patient's father, a physician, felt a mass in the right lateral hip region.  A repeat MRI showed a significant increase in the size of the lateral mass and mild increase in the size of the medial mass within the pelvis, as well as enhancement of both masses.

She underwent an open biopsy of the lateral tumor located in the right tensor fascia lata muscle. She then underwent a staging PET CT scan on 12/02/10 where a large heterogeneous soft tissue mass was noted within the soft tissue adjacent to the right iliac wing, corresponding to the previously biopsied malignant peripheral nerve sheath tumor with an SUV of 3.2. A second focus of abnormal SUV uptake superiorly and posteriorly along the right iliac wing was present that appeared to be a second distinct hypermetabolic mass on PET images, but there was apparent direct continuity on CT images. This lesion had an SUV of 3.9. There was no evidence for any metastatic disease.

She underwent a radical resection of the tumor in the right anterior hip, measuring 10 cm as well as a radical resection of the tumor in the right sciatic notch, measuring 3.5 cm in size. The pathology of the right anterior pelvic tumor was a malignant peripheral nerve sheath tumor (9.5 x 7.2 x 6.2 cm) consisting of low-grade in 55% of the tumor and high-grade in 45% of the tumor. The tumor had plexiform architecture with no intravascular invasion. Approximately 3% of the tumor was necrotic. The surgical margin showed no high-grade malignant peripheral nerve sheath tumor, but showed low-grade malignant peripheral nerve sheath tumor extending to the proximal, distal, anterior, and medial specimen margins.

The mass in the right sciatic notch showed malignant peripheral nerve sheath tumor (measuring 5.3 x 4.1 x 1.8 cm) with low grade histology. The tumor had plexiform architecture with no intravascular invasion. The tumor extended to the specimen margins.

She began treatment with ARST0332 Regimen C (6 cycles of ifosfamide and adriamycin, as well as radiation). She received Lupron ovarian suppression. She underwent radiation therapy utilizing proton beams. 4 years later, there is no evidence of residual or recurrent tumor.



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