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Tumor Discovery Expert consensus of NUT carcinoma

associated factor X (MAX) dimerization family, Capicua the Reporting Items for Practice Guidelines in Healthcare
(CIC) transcription factor, and the transcriptional (RIGHT). An overview of the entire development process
25
enhancer structural domain activation factor. This fusion is provided in Figure S1.
results in the formation of the X: NUTM1 fusion protein.
2
The carboxy-terminal portion of the fusion protein retains 2.1. Sponsor and supporters
nearly intact NUT protein, indicating the critical role of This work was initiated and supported by the NUT
NUT in the epigenetic regulation of histone acetylation Carcinoma Diagnosis Working Group of the Chinese Anti-
and its significance in the pathogenesis of these tumors. Cancer Association’s Oncogene Diagnosis Professional
The pathological characteristics of NUT carcinoma exhibit Committee, the Tumor Biomarker Professional Committee
16
low specificity, which complicates clinical diagnosis. At of the Chinese Anti-Cancer Association, and the China
present, the most commonly used diagnostic methods Food and Drug Corporation Quality and Safety Promotion
involve immunohistochemical (IHC) detection of NUT Association.
overexpression in the nucleus or identification of NUTM1
gene (15q14) copy number variations or fusion events with 2.2. Registration
common partner genes, often using fluorescence in situ This guideline has been registered on the International
hybridization (FISH) or next-generation sequencing Practice Guideline Registry Platform under the registration
(NGS). number PREPARE-2023CN767 (http://www.guidelines-
The NUT carcinoma predominantly affects young registry.cn). 26
individuals, although it can occur at any age. The 2.3. Scope
17
disease is highly invasive, often diagnosed at an
advanced stage with distant metastasis, resulting in a This guideline focuses on the diagnosis and treatment of
poor prognosis. Furthermore, the prognosis is closely NUT carcinoma. The primary target audience includes
18
linked to the specific fusion partners involved with medical oncologists, radiation oncologists, surgical
NUTM1. Radiation therapy and chemotherapy have oncologists, pathologists, nurses, and the general public.
19
limited efficacy, with rapid tumor progression typically Other healthcare professionals and decision-makers in
occurring within months. 1,18,20 Recent studies indicate cancer management may also benefit from this guideline.
that bromodomain and extra-terminal domain (BET) 2.4. Guideline working group
inhibitors and histone deacetylase (HDAC) inhibitors
may offer promising new treatment options for NUT We established the following four groups to direct the
carcinoma. 21,22 development of the guidelines (Table S1):
(i) The steering committee comprised 10 chief oncologists
The NUT Carcinoma Diagnosis Working Group of the and pathologists. They were responsible for guiding
Chinese Anti-Cancer Association’s Oncogene Diagnosis the overall design of the guidelines, making final
Professional Committee was formally established in decisions at each stage, and overseeing the entire
June 2023. This paper aims to provide more precise and process. They also wrote the guidelines.
standardized diagnostic and therapeutic guidelines for (ii) The consensus panel consisted of 65 multidisciplinary
clinicians by summarizing and analyzing the general experts, including 23 comprehensive oncology
characteristics, clinical features, imaging, pathology, specialists, 12 pulmonary oncology specialists, six
treatment, and prognosis of 526 cases of NUT carcinoma head and neck oncology specialists, five surgical
from 199 published articles. An expert consensus was oncology specialists, five pathology specialists, four
developed through consultations with experts and gastrointestinal oncology specialists, two laboratory
scholars in relevant domestic and international research medicine specialists, two bone oncology specialists,
fields, and it has been periodically revised to incorporate two rare oncology specialists, along with experts
the latest developments in the field to meet current in hematologic oncology, clinical pharmacology,
clinical needs. pediatric oncology, and biochemistry and molecular

2. Methods biology. This group was responsible for clinical
issues, voting on recommendations, and establishing
We followed the methodology recommended by the World consensus.
Health Organization (WHO) handbook for guideline (iii) The evidence synthesis group, composed of four
development and utilized the Appraisal of Guidelines members, was responsible for gathering clinical issues,
23
for Research and Evaluation (AGREE II) for assessment. conducting literature searches, evaluating, synthesizing,
24
The draft of the final guideline was developed following and grading evidence, performing systematic reviews,

Volume 3 Issue 4 (2024) 5 doi: 10.36922/td.4904