NUT Midline Carcinoma Mimicking Tonsillitis in an Eight-Year-Old Girl

Abstract

We review a unique case of NUT midline carcinoma that presented in a young girl with an initial diagnosis of tonsillar abscess. We stress the importance of assaying poorly differentiated carcinomas in young patients for the t(15;19) translocation. Our patient presented with tonsillar enlargement and cervical lymphadenopathy mimicking acute tonsillitis. The clinical suspicion for malignancy arose after an aspirate from the tonsil did not yield any pus, and biopsy of a cervical lymph node demonstrated undifferentiated carcinoma. Further analysis by fluorescence in situ hybridization was positive for rearrangements in both BRD4 and NUT genes consistent with NUT carcinoma. In addition, fluorodeoxyglucose—positron emission tomography (FDG-PET) revealed a very high standard uptake value in both the primary tumor and metastatic foci, suggesting that FDG-PET could be a useful tool in the staging and follow-up of NUT midline carcinoma.

Keywords

FDG-PET NUT midline carcinoma tonsillitis

Get full access to this article

View all access options for this article.

References

Cunningham

Myers

Bluestone

. Malignant tumors of the head and neck in children: A twenty-year review. Int J Pediatr Otolaryngol 1987;13:279–92.

French

. Demystified molecular pathology of NUT midline carcinomas. J Clin Pathol 2010;63:492–6.

French

Ramirez

Kolmakova

. BRD-NUT oncoproteins: A family of closely related nuclear proteins that block epithelial differentiation and maintain the growth of carcinoma cells. Oncogene 2008;27:2237–42.

Kubonishi

Takehara

Iwata

. Novel t(15;19) (q15;p13) chromosome abnormality in a thymic carcinoma. Cancer Res 1991;51:3327–8.

Mertens

Wiebe

Adlercreutz

Mandahl

French

. Successful treatment of a child with t(15;19)-positive tumor. Pediatr Blood Cancer 2007;49:1015–7.

French

Kutok

Faquin

. Midline carcinoma of children and young adults with NUT rearrangement. J Clin Oncol 2004;22:4135–9.

French

Miyoshi

Kubonishi

Grier

Perez-Atayde

Fletcher

. BRD4-NUT fusion oncogene: A novel mechanism in aggressive carcinoma. Cancer Res 2003;63:304–7.

Haack

Johnson

Fry

. Diagnosis of NUT midline carcinoma using a NUT-specific monoclonal antibody. Am J Surg Pathol 2009;33:984–91.

Lee

Kwong

Chan

Lau

. Disseminated mediastinal carcinoma with chromosomal translocation (15;19). A distinctive clinicopathologic syndrome. Cancer 1993;72:2273–6.

10.

Leung

Robson

. Childhood cervical lymphadenopathy. J Pediatr Health Care 2004;18:3–7.

11.

Deantonio

Beldì

Gambaro

. FDG-PET/CT imaging for staging and radiotherapy treatment planning of head and neck carcinoma. Radiat Oncol 2008;3:29.

12.

Paulino

Thorstad

Fox

. Role of fusion in radiotherapy treatment planning. Semin Nucl Med 2003;33:238–43.

13.

Berkowitz

Mahadevan

. Unilateral tonsillar enlargement and tonsillar lymphoma in children. Ann Otol Rhinol Laryngol 1999;108:876–9.

14.

Spinou

Kubba

Konstantinidis

Johnston

. Tonsillectomy for biopsy in children with unilateral tonsillar enlargement. Int J Pediatr Otorhinolaryngol 2002;63:15–7.

15.

Harley

. Asymmetric tonsil size in children. Arch Otolaryngol Head Neck Surg 2002;128:767–9.