Spitz tumors with ROS1 fusions: a clinicopathological study of 6 cases, including FISH for chromosomal copy number alterations and mutation analysis using next-generation sequencing
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F20%3A10409412" target="_blank" >RIV/00216208:11110/20:10409412 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11140/20:10409412 RIV/65269705:_____/20:00072703 RIV/00023001:_____/20:00079414 RIV/00064165:_____/20:10409412
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=gv_rpL2Cy9" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=gv_rpL2Cy9</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1097/DAD.0000000000001499" target="_blank" >10.1097/DAD.0000000000001499</a>
Alternative languages
Result language
angličtina
Original language name
Spitz tumors with ROS1 fusions: a clinicopathological study of 6 cases, including FISH for chromosomal copy number alterations and mutation analysis using next-generation sequencing
Original language description
Spitz tumors represent a heterogeneous group of melanocytic neoplasms with a spectrum of biological behavior ranging from benign (Spitz nevus) to malignant (spitzoid melanoma). Prediction of the behavior of these lesions based on their histological presentation is not always possible. Recently, mutually exclusive activating kinase fusions, involving ALK, NTRK1, NTRK3, RET, MET, ROS1, and BRAF, have been found in a subset of spitzoid lesions. Some of these genetic alterations were associated with specific morphological features. Here, we report the histological presentation of 6 Spitz tumors with ROS1 fusion. The age of the patients ranged from 6 to 34 years, with strong female prevalence (5:1). All neoplasms were compound melanocytic proliferations with a predominant dermal growth but a conspicuous junctional component displaying atypical microscopic features qualifying them as atypical Spitz tumor. FIP1L1 and CAPRIN1 were identified as 2 novel 5'-fusion partners of ROS1 along with the known PWWP2A-ROS1 fusion. FISH for copy number changes of 9p21, 6p25, and 11q13 was negative in all but 1 neoplasm harboring isolated gain of 8q24. TERT-promoter hotspot mutation analysis was negative in all tumors. All patients are disease-free after a mean follow-up period of 30 months. It is concluded that ROS1-fused spitzoid neoplasms seem to have no distinctive histopathological features although consistent findings were spindled melanocytes arranged in confluent whorling nests, prominent transepidermal elimination of melanocytic nests, and myxoid/mucinous changes.
Czech name
—
Czech description
—
Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30109 - Pathology
Result continuities
Project
—
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
The American Journal of Dermatopathology
ISSN
0193-1091
e-ISSN
—
Volume of the periodical
42
Issue of the periodical within the volume
2
Country of publishing house
US - UNITED STATES
Number of pages
11
Pages from-to
92-102
UT code for WoS article
000523700200009
EID of the result in the Scopus database
2-s2.0-85078687196