Case Report:
Our patient is a 17-month old male who was found to have hydrocephalus
on his 32-week fetal ultrasound. An MRI at birth (34 weeks, 4 days
gestational age) revealed a large right-sided cystic mass and
intraventricular hemorrhage, thought to be consistent with congenital
hydrocephalus (Fig. 1A). A ventriculoperitoneal shunt was placed at one
month of age due to increasing ventricular size and signs of increased
intracranial pressure, including macrocephaly, nystagmus, and
significant visual impairment. At seven months of age, a repeat MRI with
intravenous contrast material was obtained, which showed a large cystic
mass with a peripheral, avidly enhancing solid component (Fig. 1B). The
concern for a neoplastic process increased, prompting surgical
intervention. A frontotemporoparietal craniotomy and near-complete tumor
resection were performed without complication (Fig. 1C). The child had
left-sided extremity and truncal weakness, though these symptoms are
improving, and he is now crawling and pulling to stand.
The pathology of the patient’s tumor was complex. While a portion of the
resected tissue had features of desmoplastic infantile ganglioglioma, a
WHO grade I tumor (Fig. 2A-D), other features were more suggestive of a
high-grade neuroepithelial tumor, or HGG (Fig. 2E-Q). See Figure 2 text
for additional details. Notably, transcriptome sequencing of tumor RNA
identified an EML4-NTRK3 fusion.
At 8 months of age, following surgical resection, the patient was
started on chemotherapy with vincristine, cisplatin, etoposide, and
cyclophosphamide. He completed four cycles of chemotherapy three months
later.
Repeat imaging two months post-therapy failed to show reduction of the
tumor volume (Fig. 1D). Given the patient’s young age, radiation therapy
was deferred. He was started on larotrectinib, a TRK inhibitor, for
salvage therapy. His repeat MRI (Fig. 1E) two months later revealed a
substantial decrease in size of his residual tumor. He continues on
larotrectinib 100 mg/m2/dose twice daily and has shown
no signs of progression to date, after nine months on therapy.
Discussion :
Infantile high-grade glioma, while having superior outcomes compared to
gliomas in older pediatric patients, has a 50% chance of progression
despite conventional chemotherapy and radiotherapy
treatment3. Our case highlights a challenging tumor,
which presented as hydrocephalus at birth, but was not diagnosed as a
neoplastic process until 7 months of age. The tumor was also initially
identified as desmoplastic infantile ganglioglioma, and while it did
have features of this diagnosis, aggressive features consistent with
high-grade glioma were more prevalent. The finding of anEML4-NTRK3 fusion oncogene provided an indication for a trial of
larotrectinib, after progression on conventional chemotherapy. His
significant response to larotrectinib provides further evidence that TRK
inhibitors can be effective in TRK fusion-positive CNS tumors.
Based on phase I/II studies to date, in both pediatric and adult
patients, the side effect profile of larotrectinib is tolerable. In a
recent review of three phase I/II trials, dose reduction of
larotrectinib due to side effects only occurred in 8% of patients with
TRK-fusion positive tumors, and discontinuation due to a drug-related
adverse event only occurred in 2% of the overall
cohort6. The most common adverse events were ALT
elevation in 3% of patients, anemia in 2%, and neutropenia in 2%.
Compared with the numerous adverse effects of conventional chemotherapy,
including bone marrow suppression, infertility, and secondary
malignancies, among others, the acute effects of larotrectinib are
tolerable. While there is limited side effect data for larotrectinib in
infants, the devastating neurocognitive effects of radiation therapy in
this age group made a trial of targeted therapy an appealing
alternative. We are monitoring carefully for side effects of TRK
inhibitor therapy in our patient, but he has done well to date.
Larotrectinib has shown promising results in patients with TRK-fusion
positive tumors, particularly infantile fibrosarcoma, in which
larotrectinib use for progressive tumors has prevented debilitating
surgeries in a number of patients5. Due to emerging
evidence of the promising effects of TRK fusion-targeted therapy,
numerous clinical trials are ongoing in both adults and children with
relapsed cancer.
With regards to infantile high-grade glioma in particular, Ziegler et
al.7 also described an infant with an encouraging
response to larotrectinib, following disease progression with a standard
chemotherapy regimen. That patient’s tumor contained anETV6-NTRK3 fusion, as opposed to the EML4-NTRK3 fusion
found in our patient’s tumor. Our patient’s tumor also contained
pathologic features of desmoplastic infantile ganglioglioma, a rare,
grade I pediatric brain tumor that can sometimes develop malignant
potential.
Our case provides a promising example of larotrectinib’s utility in
infants with TRK fusion-positive HGGs. Clinical trials, such as the
Children’s Oncology Group study APEC1621A, are underway to investigate
the use of larotrectinib in a variety of TRK fusion-positive solid and
CNS tumors. This study is only enrolling patients over twelve months of
age, however, and our report helps demonstrate the potential benefit for
infants with refractory HGG who would otherwise have a poor prognosis.
While questions regarding duration of therapy and long-term side effects
of larotrectinib remain, we would advocate for the establishment of a
clinical trial including infants with TRK fusion-positive HGGs.