What is the differential diagnosis of a right supraclavicular swelling in a young female with Fine Needle Aspiration Cytology (FNAC) features suggestive of haemangioma?

Differential Diagnosis of Right Supraclavicular Swelling with FNAC Suggesting Haemangioma in a Young Female

While FNAC suggests haemangioma, a right supraclavicular swelling in a young female requires consideration of both vascular anomalies and serious pathology including tuberculosis and malignancy, as supraclavicular lymphadenopathy is strongly associated with these conditions in 64% of cases. 1

Primary Differential Considerations

Vascular Anomalies (FNAC-Concordant Diagnoses)

Venous Malformation (Most Likely Vascular Diagnosis)

• Venous malformation is the most common congenital vascular malformation (70% of all vascular malformations), presenting at birth as an inborn vascular defect that never regresses spontaneously and grows proportionally with body growth 2, 3
• FNAC may misinterpret venous malformation as haemangioma due to the presence of vascular channels and blood-filled spaces 3
• Key distinguishing feature: Venous malformations are present from birth and grow slowly throughout life, whereas true haemangiomas appear after birth and undergo involution 3, 4

Infantile Hemangioma (Less Likely in Young Female)

• True neoplasm with increased mitotic activity and endothelial cell turnover, distinct from vascular malformations 2
• Becomes clinically evident within first weeks of life, undergoes rapid proliferation in first year, then predictable involution by age 4 years (90% of cases) 2
• Female predominance (female:male ratio 1.4:1 to 3:1) 2
• Critical limitation: If patient is beyond early childhood, this diagnosis is unlikely as involution should be complete 2, 4

Rapidly Involuting Congenital Haemangioma (RICH)

• Rare vascular tumor presenting as congenital purplish bulky mass with exuberant vascular component 5
• Undergoes complete involution in first year of life 5
• Age consideration: Unlikely in a "young female" beyond infancy 5

Non-Vascular Pathology (FNAC-Discordant but Clinically Critical)

Tuberculosis (Most Common Non-Malignant Cause)

• Granulomatous inflammation from tuberculous lymphadenitis represents 37.7% of supraclavicular lymphadenopathy cases 1
• Mean age for non-malignant supraclavicular disease is 33.7 years 1
• Clinical clue: Discrete, firm, tender lymph nodes were found to be non-malignant in 100% of cases 1

Malignant Lymphadenopathy (Second Most Common)

• Bronchial carcinoma accounts for 26.4% of supraclavicular lymphadenopathy 1
• Other malignancies include lymphoma, breast cancer, ovarian cancer, and upper GI malignancies 1
• Mean age for malignant supraclavicular disease is 49.7 years 1
• Clinical clue: Discrete, hard, non-tender, fixed or non-fixed lymph nodes were malignant in 100% of cases 1

Diagnostic Algorithm

Step 1: Clinical Characterization

Physical examination findings that determine next steps:

• If discrete, firm, tender: Strongly suggests non-malignant etiology (tuberculosis most likely) 1
• If discrete, hard, non-tender, fixed: Strongly suggests malignancy (100% specificity) 1
• If soft, compressible, increases with Valsalva: Suggests venous malformation 3
• If present since birth with slow growth: Venous malformation 3
• If appeared after birth with rapid growth then regression: Infantile hemangioma (unlikely in young female) 2, 4

Step 2: Initial Imaging

Ultrasound with Duplex Doppler is the appropriate first-line imaging modality 2

• Distinguishes infantile hemangiomas from venous malformations: combination of arterial and venous waveforms indicates hemangioma, while low-flow pattern indicates venous malformation 2
• Visualizes well-circumscribed mixed echogenicity solid masses with central and peripheral vessels in hemangiomas 2
• Limitation: US may be limited if extensive embolization material present from prior treatment 2

Step 3: Advanced Imaging (When US Inconclusive)

MRI/MRA without and with IV contrast is usually appropriate for definitive characterization 2

• Defines venous and arterial anatomy, differentiates tissue types involved 2
• Dynamic MRA acquisitions distinguish slow versus fast flow, identify nidus in arteriovenous malformations 2
• Particularly indicated when deep extent or infiltrative involvement needs assessment 2

Step 4: Tissue Diagnosis Refinement

Repeat biopsy or core needle biopsy if FNAC-clinical discordance:

• FNAC has limitations in distinguishing vascular lesions from lymphadenopathy 2
• If clinical features suggest tuberculosis or malignancy despite FNAC showing hemangioma, ultrasound-guided core biopsy of solid components is recommended 2, 6
• Cell block preparation from FNAC material allows additional immunostaining and molecular studies 6

Critical Clinical Pitfalls

Do not accept FNAC diagnosis of hemangioma without clinical correlation:

• Supraclavicular location is atypical for hemangioma and strongly associated with serious pathology (tuberculosis 37.7%, malignancy 26.4%) 1
• FNAC may misinterpret blood-filled venous malformation channels as hemangioma 3
• Cystic degeneration in metastatic carcinoma can mimic vascular lesions on FNAC 6

Age-appropriate diagnosis is essential:

• True infantile hemangiomas should have involuted by age 4-8 years 2
• If patient is adolescent or adult, consider venous malformation or misdiagnosed lymphadenopathy rather than hemangioma 2, 3

Physical examination trumps cytology for malignancy risk:

• Hard, non-tender, fixed nodes have 100% malignancy rate regardless of FNAC findings 1
• Firm, tender nodes have 100% non-malignant rate (tuberculosis most common) 1