Beyond Infantile Hemangiomas: A Glimpse into Overlapping Rare Syndromes Emphasizing the Vigilant Screening for PHACE and LUMBAR Syndromes.

Infantile hemangiomas are the most common birthmark in newborns. They are clinically diagnosed and usually self-limited. However, there are several exceptions with aggressive types of hemangiomas that can be associated with extracutaneous anomalies, such as PHACE syndrome (posterior fossa anomalies, upper body hemangiomas, arterial anomalies, cardiac anomalies, and eye anomalies) and LUMBAR syndrome (lower body hemangiomas, ulcerations/urogenital anomalies, myelopathies, bony deformities, anorectal malformations/arterial anomalies, and renal anomalies). These two syndromes, described in the literature with distinct features, have rarely been reported in the same patient. We discuss one of the few cases reported with overlapping features of the PHACE and LUMBAR syndromes that initially presented with infantile hemangiomas, as well as other nonspecific skin and systemic findings. Minimal guidance has been described due to the need for more scientific literature. Our aim is to reinforce awareness of these two syndromes and the possibility of an overlap presentation between them. Furthermore, we emphasize the need for an interdisciplinary approach with screening for all known associations to avoid missing essential components of these syndromes that can lead to significant morbidity and lifetime complications.

Breslow thickness 2.0: Why gene expression profiling is a step toward better patient selection for sentinel lymph node biopsies.

Risk-stratification of cutaneous melanoma is important. Patients want to know what to expect after diagnosis, and physicians need to decide on a treatment plan. Historically, melanoma that had spread beyond the skin and regional lymph nodes was largely incurable, and the only approach to preventing a bad outcome was surgery. Through the seminal work of Alexander Breslow and Donald Morton, a system was devised to carefully escalate surgery based on primary tumor thickness and sentinel lymph node status. Today, we know that prophylactic lymph node dissections do not improve survival, but we continue to appreciate the prognostic implications of a positive sentinel node and the benefits of removing nodal metastases, which facilitates locoregional disease control. However, the question arises whether we can better select patients for sentinel lymph node biopsies (SLNB) as, currently, 85% of these procedures are negative and non-therapeutic. Here, we argue that gene expression profiling (GEP) of the diagnostic biopsy is a valuable step toward better patient selection when combined with reliable clinicopathologic (CP) information such as patient age and Breslow thickness. Recently, a CP-GEP-based classifier of nodal metastasis risk, the Merlin Assay, has become commercially available. While CP-GEP is still being validated in prospective studies, preliminary data suggest that it is an independent predictor of nodal metastasis, outperforming clinicopathological variables. The hunt is on for Breslow thickness 2.0.

Using the Merlin assay for reducing sentinel lymph node biopsy complications in melanoma: a retrospective cohort study.

BACKGROUND: The assessment of the sentinel lymph node is a cornerstone of melanoma staging. However, ~80% of sentinel lymph node biopsies (SLNB) are negative and nontherapeutic, and patients are unnecessarily exposed to surgery-related complications. Here, we gauged the potential of the Merlin assay to reduce SLNB-associated complications. The Merlin assay uses clinicopathologic variables and tumor gene expression profiling to identify low-risk patients who may forgo SLNB. METHODS: We utilized the Merlin test development cohort to determine SLNB complication rates for procedures performed between 2004 and 2018 at Mayo Clinic. Complications evaluated were lymphedema, seroma, infection/cellulitis, hematoma, and wound dehiscence. Patients who underwent a completion lymph node dissection were excluded. RESULTS: A total of 558 patients were included. The overall 90-day complication rate specific to SLNB (1 year for lymphedema) was 17.4%. The most common complications were seroma (9.3%), infection/cellulitis (4.8%), and lymphedema (4.3%). All three were more common in patients with a lower extremity primary tumor location versus other locations. With Merlin test results applied, SLNB-related complications would have decreased by 59%. CONCLUSION: SLNB is a safe procedure but carries a significant complication rate. Merlin testing might reduce the need for SLNB and its associated complications.