SMARCA4-Deficient Undifferentiated Tumor Presenting as a Tonsillar Mass With Widespread Metastases: A Rare Head and Neck Manifestation and Complete Response to Chemoimmunotherapy.

Julie Huynh, Joshua Segal, Lauren Eisenbud, Rodolfo Gutierrez, Samuel J Slomowitz

Abstract readCase Reports

In one paragraph

Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

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0 citing papers in PubMed.

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4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Julie HuynhHematology and Medical Oncology, University of California, Los Angeles, Los Angeles, USA.

Joshua SegalPathology, TOPA Diagnostics, Los Angeles, USA.

Lauren EisenbudHematology and Medical Oncology, University of California, Los Angeles, Los Angeles, USA.

Rodolfo GutierrezHematology and Medical Oncology, University of California, Los Angeles, Los Angeles, USA.

Samuel J SlomowitzHematology and Medical Oncology, University of California, Los Angeles, Los Angeles, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A (SMARCA4)-deficient undifferentiated tumors (SMARCA4-UTs) are rare, aggressive malignancies typically arising in the thoracic cavity. We present a case of a 73-year-old male who initially presented with symptoms consistent with acute tonsillitis but rapidly developed odynophagia, dysphagia, cervical lymphadenopathy, and profound weight loss. Imaging revealed a left tonsillar mass with extensive metastases to lymph nodes, lungs, bones, and mediastinum. A biopsy of the tonsillar mass confirmed a SMARCA4-deficient undifferentiated tumor. The patient underwent systemic treatment with carboplatin, paclitaxel, and pembrolizumab, complicated by refeeding syndrome, perforated appendicitis, and pulmonary embolism. Despite this, he achieved complete remission after six cycles and continues on maintenance pembrolizumab. This case illustrates the potential for durable response with chemoimmunotherapy in this rare and aggressive malignancy, even when presenting in atypical anatomic locations.

Indexed as

cancer immunotherapypembrolizumabsmarca4 deficientsmarca4-deficient undifferentiated tumorthoracic smarca4-deficient undifferentiated tumor

Identifiers

PMID40978837

DOI10.7759/cureus.90665

PMCPMC12449849

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