Τίτλος:
Midline carcinoma of children and young adults with NUT rearrangement
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Purpose A balanced chromosomal translocation, t(15;19), resulting in the
BRD4-NUT oncogene, has been identified in a lethal carcinoma of young
people, a disease described primarily in case reports. We sought to
amass a more definitive series of tumors with NUT and/or BRD4 gene
rearrangements and to determine distinct clinicopathologic features.
Patients and Methods Carcinomas (N = 98) in young individuals (median
age, 32.5 years) were screened for NUT and BRD4 rearrangements using
dual-color fluorescence in situ hybridization. Four published carcinomas
with BRD4 and NUT rearrangements were also evaluated. Immunophenotypic
analyses were performed.
Results Eleven tumors had NUT gene rearrangements, including eight with
BRD4-NUT fusions and three with novel rearrangements, which were
designated as NUT variant. All NUT-rearranged carcinomas (NRCs) arose
from midline epithelial structures, including the first example arising
below the diaphragm. Patients were young (median age, 17.6 years).
Squamous differentiation (seen in 82% of NRCs) was particularly
striking in NUT-variant cases. In this first description of NUT-variant
carcinomas, the average survival (96 weeks, n = 3) was longer than for
BRD4-NUT carcinomas (28 weeks, n = 8). Strong CD34 expression was found
in six of 11 NRCs but in zero of 45 NUT wild-type carcinomas.
Conclusion NRCs arise from midline structures in young people, and NRCs
with BRD4-NUT are highly lethal, despite intensive therapies.
NUT-variant carcinomas might have a less fulminant clinical course than
those with BRD4-NUT fusions. CD34 expression is characteristic in NRCs
and, therefore, holds promise as a diagnostic test for this distinctive
clinicopathologic entity. (C) 2004 by American Society of Clinical
Oncology.
Συγγραφείς:
French, CA
Kutok, JL
Faquin, WC
Toretsky, JA
Antonescu,
CR
Griffin, CA
Nose, V
Vargas, SO
Vargas, SO and
Moschovi, M
Tzortzatou-Stathopoulou, F
Miyoshi, I and
Pcrez-Atayde, AR
Aster, JC
Fletcher, JA
Περιοδικό:
Journal of Clinical Oncology
Εκδότης:
AMER SOC CLINICAL ONCOLOGY 2318 MILL ROAD, STE 800, ALEXANDRIA, VA 22314 USA
DOI:
10.1200/JCO.2004.02.107
