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Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

2012; BMJ; Volume: 50; Issue: 2 Linguagem: Inglês

10.1136/jmedgenet-2012-101320

1468-6244

Donna M. McDonald‐McGinn, Somayyeh Fahiminiya, Timothée Revil, Beata Nowakowska, Joshua A. Suhl, Alice Bailey, Elisabeth E. Mlynarski, David R. Lynch, Albert C. Yan, Larissa T. Bilaniuk, Kathleen E. Sullivan, Stephen T. Warren, Beverly S. Emanuel, Joris Vermeesch, Elaine H. Zackai, Loydie A. Jerome‐Majewska,

Congenital Heart Disease Studies

Localization of sentinel lymph nodes can be challenging if they are in difficult anatomic locations or near high radiotracer activity. The purpose of this study was to assess the value of intraoperative real-time imaging using a portable γ-camera in conjunction with a conventional γ-counting probe when it is difficult to localize the sentinel node. Methods: After 99m Tc-nanocolloid injection, patients with various malignancies underwent presurgical lymphoscintigraphy followed by surgery (usually the next day). We evaluated 20 patients who required sentinel lymph node biopsy and in whom the location or other characteristics of the sentinel node would make intraoperative retrieval difficult. During surgery, the sentinel node was localized using a portable γ-camera together with a hand-held γ-probe. A 153 Gd pointer or 125 I seed was used to better depict the sentinel node location in real time. Results: Using only a conventional hand-held γ-probe, surgeons were able to definitively localize the sentinel node in 15 of 20 patients. Intraoperatively, the portable γ-camera showed uptake by the definite sentinel node in 19 of 20 patients and helped to precisely localize the node with the hand-held γ-probe in 4 patients. In 1 of these patients, the sentinel node was metastatic. Conclusion: The combination of a standard hand-held γ-probe and real-time imaging provided by a portable γ-camera offers a high intraoperative detection rate in patients with difficult sentinel node localization as assessed by presurgical lymphoscintigraphy.