A Young Woman's Journey with Persistent Throat Pain: Understanding an Unusual Cancer Diagnosis

Table of Contents

• Case Presentation: The Patient's Story
• Initial Evaluation and Treatment
• Diagnostic Process and Imaging
• Differential Diagnosis: What Could It Be?
• Pathological Findings and Diagnosis
• Clinical Implications for Patients
• Limitations of the Case
• Patient Recommendations
• Source Information

Case Presentation: The Patient's Story

A 29-year-old previously healthy woman arrived at the hospital with concerning throat symptoms that had persisted for seven weeks. Her medical journey began with a sore throat that didn't improve after one week, leading her to seek care at a primary clinic. Initial tests for COVID-19 and strep throat came back negative, and she was advised to rest and hydrate.

Over the next four days, her throat pain intensified significantly, becoming so severe that it disrupted her sleep. She returned to the clinic and received azithromycin, an antibiotic, but after five days of treatment, her symptoms showed no improvement. The persistent pain and swelling on the right side of her throat prompted an emergency department visit 31 days before her eventual admission to Massachusetts General Hospital.

During that emergency visit, she described feeling like food was getting "stuck" when she swallowed, along with fatigue but no fever, breathing difficulties, or other systemic symptoms. Her vital signs were normal: temperature 36.9°C (98.4°F), blood pressure 105/77 mm Hg, heart rate 74 beats per minute, and oxygen saturation 99% on room air.

Initial Evaluation and Treatment

Doctors observed edema (swelling) and fluctuance (fluid-filled area) in the right peritonsillar area (the space around the tonsils), with the uvula (the dangling tissue at the back of the throat) deviating to the left. Notably, she had no trismus (jaw stiffness), lymph node enlargement, or rash. Her white blood cell count was 6,700 per microliter, within the normal range of 4,000-11,000.

Initial treatment included amoxicillin-clavulanate, another antibiotic, after which she was discharged with instructions to follow up with an ear, nose, and throat (ENT) specialist. Twenty-six days before her final admission, she underwent an incision and drainage procedure that yielded 3 ml of bloody fluid rather than pus.

The next day, she returned with increased pain, swelling, and bleeding from the incision site. Doctors noted more swelling, bruising (ecchymosis), fragile mucosa, and some necrotic tissue. They attempted to drain more fluid and evacuated a hematoma (blood collection), but bleeding continued, requiring urgent surgery to control it with specialized agents.

Diagnostic Process and Imaging

Imaging played a crucial role in her diagnosis. A computed tomography (CT) scan with contrast dye revealed a hypodense (less dense) lesion measuring 2.6 cm × 2.1 cm × 3.8 cm in the right peritonsillar area. The mass showed minimal rim enhancement and caused mild narrowing of the oropharynx (throat space).

One month later, a CT angiogram showed the lesion had grown to 3.4 cm × 3.6 cm × 4.6 cm with complex density. It now extended into the soft palate and nasopharynx (upper throat area behind the nose). The mass was inseparable from the right medial pterygoid muscle but showed no muscle enlargement or edema.

Laboratory values upon final admission showed an elevated white blood cell count of 13,470 per microliter (normal: 4,500-11,000) with increased neutrophils (8,970, normal: 1,800-7,700). Her hemoglobin was 15.1 g/dL (normal: 12.0-16.0) and hematocrit 44.9% (normal: 36.0-46.0), with normal platelet count and coagulation studies.

Differential Diagnosis: What Could It Be?

The medical team considered multiple possibilities for her condition. Initially, a peritonsillar abscess (a collection of pus near the tonsils) seemed likely given her symptoms and location. However, the absence of fever, trismus, lymph node enlargement, and the lack of pus during drainage made this less probable.

They expanded their consideration to include:

• Autoimmune conditions like systemic lupus erythematosus or vasculitis
• Granulomatous diseases such as sarcoidosis
• Infiltrative disorders like amyloidosis
• Benign tumors including papillomas, fibromas, or salivary gland tumors
• Malignant cancers such as squamous cell carcinoma, lymphoma, salivary gland cancer, or sarcoma

The rapid growth pattern, bleeding tendency, and absence of lymph node involvement made sarcoma (a type of connective tissue cancer) a strong consideration. The location in the peritonsillar space containing various tissue types made several cancer types possible without biopsy confirmation.

Pathological Findings and Diagnosis

The definitive diagnosis came from biopsy results. Microscopic examination revealed tumor cells with skeletal muscle differentiation. Immunohistochemical staining (special tissue tests) showed the tumor cells were positive for desmin and myoD1 (muscle-specific markers), and focally positive for myogenin (another muscle marker).

Molecular testing was crucial for confirmation. Fluorescence in situ hybridization (FISH) testing ruled out FOXO1 rearrangements, effectively eliminating alveolar rhabdomyosarcoma from consideration. Next-generation sequencing identified variants in the RAS pathway, including mutations in HRAS and GNAS genes.

The final diagnosis was embryonal rhabdomyosarcoma, a rare soft tissue sarcoma that typically affects children but can occasionally appear in adults. Cytogenetic analysis revealed a complex karyotype including trisomy 8 (an extra chromosome 8), which can occur in rhabdomyosarcoma cases.

Clinical Implications for Patients

This case demonstrates several important points for patients experiencing persistent symptoms. First, throat symptoms that don't respond to appropriate antibiotic therapy warrant further investigation beyond infection. The absence of typical infection signs like fever or pus doesn't rule out serious conditions.

Second, the diagnostic process for rare conditions often requires multiple approaches: physical examination, imaging studies, laboratory tests, and ultimately tissue biopsy with specialized molecular testing. The seven-week journey from initial symptoms to diagnosis highlights how complex rare conditions can be to identify.

Third, rhabdomyosarcoma in adults is exceptionally rare, accounting for less than 1% of adult cancers. When it occurs in the head and neck region, it can present with symptoms mimicking common infections, making diagnosis challenging. Early detection is crucial for optimal treatment outcomes.

Limitations of the Case

This case report describes a single patient's experience, which means the findings cannot be generalized to all patients with similar symptoms. The rarity of embryonal rhabdomyosarcoma in adults means this represents an unusual presentation rather than a common scenario.

The diagnostic process took several weeks and multiple interventions, which might not reflect the ideal timeline for identifying such conditions. The case doesn't provide long-term follow-up information about treatment response or outcomes, focusing instead on the diagnostic challenge.

Additionally, the patient's relatively young age and absence of typical cancer risk factors (non-smoker, no alcohol use) made cancer a less immediate consideration, which might delay diagnosis in similar cases.

Patient Recommendations

Based on this case, patients should:

1. Seek reevaluation if symptoms persist beyond expected timeframes despite appropriate treatment
2. Request referral to specialists when general treatments fail to resolve symptoms
3. Consider advanced imaging when physical findings don't match expected patterns
4. Understand that biopsy may be necessary when less invasive methods don't provide answers
5. Be aware that rare conditions can sometimes explain persistent symptoms that don't fit common patterns

For persistent throat symptoms specifically, patients should note the absence of typical infection signs (fever, pus, lymph node enlargement) might indicate non-infectious causes requiring different diagnostic approaches. Bleeding from throat areas, especially without clear cause, always warrants thorough investigation.

Source Information

Original Article Title: Case 14-2025: A 29-Year-Old Woman with Peritonsillar Swelling and Bleeding

Authors: Rahmatullah Wais Rahmati, Katherine L. Reinshagen, Rosh K.V. Sethi, David S. Shulman, Emily M. Hartsough

Publication: The New England Journal of Medicine, 2025;392:1954-1964

DOI: 10.1056/NEJMcpc2300972

This patient-friendly article is based on peer-reviewed research from the Case Records of the Massachusetts General Hospital.