Malignant triton tumor in the setting of segmental neurofibromatosis: A rare case report and review of the literature
Bibliographic record
Abstract
Malignant triton tumors (MTTs) are a rare and highly aggressive subtype of malignant peripheral nerve sheath tumors (MPNSTs) displaying rhabdomyoblastic differentiation. Similarly, segmental neurofibromatosis (SN) is a rare subtype of neurofibromatosis (NF), a condition predisposing patients to MPNSTs and MTTs. Few reports have documented MTTs in the setting of NF, and none have detailed its occurrence in SN. Here, we describe such a case, its management, and cytogenetic analysis in the context of literature review. A healthy 25-year old female presented with a 1.5-year history of left anteromedial thigh pain, sensory deficit, and growth of a palpable mass prompting magnetic resonance imaging at an outside hospital. The patient underwent initial intralesional resection, however upon diagnosis of MTT, the patient was referred to the peripheral nerve service at our institution. On examination, the patient was found to have asymmetric inguinal freckling and multiple café-au-lait spots isolated to the extremity, in addition to leg extension weakness. After negative metastatic staging and repeat imaging showing residual/recurrent tumor, the patient was taken back for an en-bloc resection. Cytogenetic profiling revealed gene mutation to NF, TP53, CDKN2A/B, EED and a myriad of large structural chromosomal abnormalities. Despite completing an en-bloc resection with negative margins, the patient had another recurrence requiring a third resection. At last follow-up, the patient was doing clinically well with some persistent weakness, and was undergoing postoperative radiotherapy. MTTs represent a rare subset of MPNST, not previously detailed in a SN patient. Given their poor overall prognosis, early clinical and radiological follow-up is necessary for these patients due to MTT tendency to recur early and metastasize.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".