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08-07-2024 | Pediatric Hematology and Oncology | Editor's Choice | News

Standardized surveillance protocols aid early detection in cancer predisposition syndrome

Author: Lynda Williams


medwireNews: Following a standardized surveillance protocol aids the early detection and treatment of tumors in children with a cancer predisposition syndrome (CPS), show study findings published in JAMA Oncology.

“These data indicate the utility of surveillance; the importance of initiating monitoring as soon as a CPS diagnosis is established, even if it is during treatment for an existing tumor; and the need to coordinate imaging with primary oncologists to reduce exposure to anesthesia and minimize costs from duplicate scans,” say Kim Nichols and co-workers from the St Jude Children’s Research Hospital in Memphis, Tennessee, USA.

The team reports the findings from their clinic for 274 patients with Li Fraumeni syndrome (17.9%), familial adenomatous polyposis (FAP, 13.9%), neurofibromatosis type 1 (10.2%), DICER1 syndrome (9.1%), Beckwith-Wiedemann spectrum (7.3%), or another type of CPS who underwent surveillance for a median of 3 years between the ages of birth and 23 years.

The team created standardized surveillance protocols harnessing a range of tests tailored to each form of CPS, with specified surveillance intervals from set ages. For instance, they advise children carrying the AMER1 mutation linked to Wilms tumor to undergo skeletal and audiology tests at diagnosis, followed by renal ultrasound (US) every 3 months until the age of 8 years, and an annual physical examination.

And for patients with FAP, the recommended surveillance is annual physical examinations from diagnosis, abdominal US and serum alfa fetoprotein tumor marker testing every 3 months from birth to age 4 years; annual colonoscopy from age 10–12 years or 10 years before the earliest case of familial colon cancer in their family; and annual thyroid US from age 15 years; as well as esophagogastroduodenoscopy (EGD) before colectomy and brain magnetic resonance imaging (MRI) for those with a family history of brain tumors.

Thirty children developed 24 solid, 13 central nervous system, and three hematopoietic malignancies over the study period, 87.5% of which were detected by a surveillance protocol, most commonly by imaging (71.4%), clinical examination (17.1%), EGD or colonoscopy (5.7%), or laboratory assessment (5.7%). Most (65.7%) of the tumors were detected within 2 years of starting surveillance and 28.6% at the first assessment.

And although five children had symptomatic tumors detected outside of surveillance, two of these patients had a second primary tumor detected through their protocol, Nichols and co-authors note.

Of the 24 tumors detected during surveillance, 83.3% were local disease whereas just 56.8% of the 71 tumors diagnosed before surveillance began were localized. Almost half (48.6%) of the surveillance-detected tumors were treatable with surgery alone and the majority had negative surgical margins (70.89%). Only 4.2% of these tumors had distant disease.

On a patient level, surveillance was 96.4% sensitive and 99.6% specific for the detection of tumors, the researchers emphasize, and the individual imaging tests ranged from 100% sensitivity and specificity with spinal MRI or EGD/colonoscopy to 100% specificity but 20% sensitivity for abdominal US.

Overall, 0.4% of surveillance tests returned false–positive findings in 2.2% of patients and although these did not affect patient surgery or treatment management, Nichols et al admit that their research “did not examine the psychological, emotional, or economic outcomes of surveillance.”

They write: “While the cost-effectiveness of surveillance has been explored for patients with [Li Fraumeni syndrome], further efforts are needed for other CPSs.”

medwireNews is an independent medical news service provided by Springer Healthcare Ltd. © 2024 Springer Healthcare Ltd, part of the Springer Nature Group

JAMA Oncol 2024; doi:10.1001/jamaoncol.2024.1878


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