Not All That’s Vascular Has a Name: A Unique Case of a Vascular Neoplasm with PTCH1 Mutation and No Definitive Classification in a Young Female

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Authors

• Casey P. Schukow, Corewell Health Resident
• Emily Jagenburg, Oakland University William Beaumont School of Medicine Medical Student
• Christopher K. Hysell, Corewell Health East/Oakland University William Beaumont School of Medicine

Description

Background ▪ Vascular neoplasms are a broad and complex group of soft tissue entities, arising in both younger and older populations. ▪ While tumor morphology, immunophenotypic patterning, and clinical correlation are essential in establishing accurate diagnoses, molecular profiling has increasingly become a vital tool in deciphering challenging cases. Case Presentation ▪ We present a case of a female in her mid-twenties who presents with a shoulder mass that was detected on imaging (outside institution, image not available). Core biopsy of the mass showed a vascular neoplasm most compatible with retiform hemangioendothelioma, which is an uncommon entity with propensity to locally recur unless wide local excision is performed. ▪ Surgical resection was performed, and the gross specimen showed a fleshy, well-demarcated soft tissue lesion (4.4 cm greatest dimension

Publication Date

4-15-2026

Keywords

Vascular Neoplasms

Disciplines

Pathology

Recommended Citation

Schukow CP, Jagenburg E, Hysell CK. Not All That’s Vascular Has a Name: A Unique Case of a Vascular Neoplasm with PTCH1 Mutation and No Definitive Classification in a Young Female. Poster presented at: 2nd Annual Corewell Health East Medical Education Research Day. Virtual, April 15, 2026.

Comments

2nd Annual Corewell Health East Medical Education Research Day. Virtual, April 15, 2026