# Transvenous biopsy of body cistyc lesions in a 32-year-old man with cloves syndrome and thrombocytopenia: a safe option for high bleeding risk patients

**Authors:** María Alejandra Martínez, Jose Rodrigo Muñoz-Ordoñez, Jorge Alberto Guzman, María Paula González‑Zambrano, Diego Alejandro Gomez Castellanos, María F. Estévez, Edgar Fabian Manrique‑Hernandez

PMC · DOI: 10.1186/s42155-025-00541-2 · 2026-03-18

## TL;DR

A 32-year-old man with CLOVES syndrome and low platelets safely underwent a transvenous biopsy to diagnose his condition.

## Contribution

Presents transvenous biopsy as a safe alternative for high-bleeding-risk patients with thrombocytopenia and vascular lesions.

## Key findings

- Transvenous biopsy confirmed PIK3CA involvement in a patient with CLOVES syndrome.
- The procedure allowed safe tissue sampling without significant bleeding.
- This approach can guide treatment in patients with complex vascular lesions.

## Abstract

Image guided percutaneous biopsy is a standard in interventional radiology but can be limited by anatomical or clinical factors. Alternative techniques, such as transvenous biopsy, can aid in cases with these constraints, particularly in patients with thrombocytopenia.

A 32-year-old male with PIK3CA related overgrowth syndrome presenting as Congenital, Lipomatous, Overgrowth, Vascular malformations, Epidermal nevi, Spinal/skeletal anomalies and/or scoliosis (CLOVES) syndrome, was admitted to the emergency department with bleeding cystic lesions and severe thrombocytopenia. The initial medical approach for patients with thrombocytopenia must be supported by a genetic or histopathologic examination, as required by insurance protocols. Percutaneous fine-needle biopsy often has low diagnostic yield in such cases. Due to the high risk of bleeding associated with thrombocytopenia and the vascular nature of the cystic lesions, direct percutaneous biopsy was contraindicated. Instead, a transvenous biopsy was performed by accessing the lesion through a venous route under image guidance, allowing for safe tissue sampling without the risk of significant hemorrhage. This approach confirmed PIK3CA involvement and guided subsequent treatment.

Transvenous biopsy serves as a safe and effective alternative to standard percutaneous biopsy in high-risk patients with thrombocytopenia and vascular lesions, enabling accurate diagnosis while minimizing bleeding complications.

## Linked entities

- **Genes:** PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) [NCBI Gene 5290]
- **Diseases:** CLOVES syndrome (MONDO:0013038), thrombocytopenia (MONDO:0002049)

## Full-text entities

- **Genes:** PIK3CB (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta) [NCBI Gene 5291] {aka P110BETA, PI3K, PI3KBETA, PIK3C1}, PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) [NCBI Gene 5290] {aka CCM4, CLAPO, CLOVE, CWS5, HMH, MCAP}, AKT1 (AKT serine/threonine kinase 1) [NCBI Gene 207] {aka AKT, PKB, PKB-ALPHA, PRKBA, RAC, RAC-ALPHA}, PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1) [NCBI Gene 5295] {aka AGM7, GRB1, IMD36, p85, p85-ALPHA, p85alpha}, MTOR (mechanistic target of rapamycin kinase) [NCBI Gene 2475] {aka FRAP, FRAP1, FRAP2, RAFT1, RAPT1, SKS}
- **Diseases:** skeletal abnormalities (MESH:D009139), abdominal tumors (MESH:D000008), blood (MESH:D006402), inflammatory (MESH:D007249), vascular lesions (MESH:D014652), thrombocytopenia (MESH:D013921), Fibroadipose Hyperplasia (MESH:D006965), bleeding cystic lesions (MESH:D052177), Epidermal nevi (MESH:D009506), lymphatic malformations (MESH:D008209), blood loss (MESH:D016063), thoracoabdominal venolymphatic and arteriovenous malformations (MESH:D058502), Vascular malformations (MESH:D054079), macrodactyly (MESH:C562546), venolymphatic malformation (MESH:C564254), tumors (MESH:D009369), Megalencephaly-Capillary Malformation syndrome (MESH:D058627), Skeletal anomalies (MESH:C535534), Sandal gap deformity (MESH:C562538), Spinal/skeletal anomalies and/or scoliosis (MESH:D012600), Overgrowth of the (MESH:C537340), splenomegaly (MESH:D013163), pancytopenia (MESH:D010198), connective tissue dysplasia (MESH:D003240), CLOVES syndrome (MESH:C567863), coagulation disorders (MESH:D001778), bleeding (MESH:D006470), ocher dermatitis (MESH:D003872), limb extremities (MESH:D001259), lesion (MESH:D009059)
- **Chemicals:** Histoacryl (MESH:D004659), lidocaine (MESH:D008012)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

5 figures with captions in the complete paper: https://tomesphere.com/paper/PMC13000033/full.md

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Source: https://tomesphere.com/paper/PMC13000033