Neural Crest Tumors and ROHHAD-NET: Screening and Surveillance

In children with ROHHAD, the condition is sometimes associated with the growth of specific types of tumors. When these tumors are present, the condition is often referred to as ROHHAD-NET, where NET refers to neural crest tumors (not to be confused with neuroendocrine tumors) ^[1][2]. While the word “tumor” is frightening, understanding the risk and establishing a surveillance plan is an important part of proactive care.

Understanding the Risk

Medical research from small observational cohorts and reviews shows that a significant number of children with ROHHAD—estimates range from 40% to 56% depending on the study—will develop a neural crest tumor ^[3][1].

The most common types found are:

• Ganglioneuromas: These are benign (non-cancerous) tumors that grow from nerve tissue. They are the most frequently reported type in ROHHAD patients ^[3][2].
• Ganglioneuroblastomas: These are “intermediate” tumors that contain both benign and potentially more active cells ^[4].
• Neuroblastomas: These can be clinically significant or malignant. While less common in ROHHAD than ganglioneuromas, their risk depends on tumor type and biology, and they require specialist assessment ^[4].

These tumors most often grow in the adrenal glands (near the kidneys), the mediastinum (the center of the chest), or the pelvis ^[5][6].

The Critical Two-Year Window

Timing is an important factor when it comes to screening. Small observational studies indicate that approximately 70% of these tumors are discovered within the first 24 months after the rapid weight gain begins ^[1][7].

Because of this “high-risk window,” doctors typically recommend a rigorous screening schedule during the early years of the diagnosis ^[1]. However, since tumors can be found after that two-year mark, screening must continue as your child grows ^[1][8].

Standard Surveillance Protocols

Because these tumors can be small and hidden deep within the body, specialized imaging is required. There is no single internationally standardized imaging schedule, so your specialist center will determine the modality and interval.

1. Imaging (MRI or CT): Your child will likely need scans of the chest, abdomen, and pelvis to check for any new growths ^[5][6]. The team will weigh the trade-offs: CT involves radiation, while MRI limits radiation but may require sedation—which must be carefully planned in a child at high respiratory risk ^[9]. Routine brain MRIs are typically not required unless there are neurologic indications.
2. Multidisciplinary Review: Because these tumors are rare, it is important that the scans are read by a pediatric radiologist or an oncology team familiar with neural crest tumors ^[1].
3. Lab Work: In some cases, doctors may test urine or blood for catecholamines (hormones often produced by these tumors), though these tests are not always positive in ROHHAD-related tumors ^[5].

Emerging Tools: Anti-ZSCAN1

Researchers have recently investigated a potential “marker” in the blood called anti-ZSCAN1 antibodies ^[10].

Early, small preliminary studies have found that these antibodies are present in about 70% to 85% of select children with ROHHAD ^[11][12]. While these initial studies are promising, the assay is not a validated routine diagnostic or risk-stratification test, and it may only be available through research or specialized laboratories ^[10][11]. It should not replace clinical assessment or imaging ^[10].