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Clear cell sarcoma of kidney involving a horseshoe kidney and harboring EGFR internal tandem duplication
Author(s) -
Santiago Teresa,
Clay Michael R.,
Azzato Elizabeth,
Newman Scott,
FernandezPineda Israel,
Nichols Kim E.,
Zhang Jinghui,
Downing James R.,
Davidoff Andrew,
Brennan Rachel C.,
Ellison David W.
Publication year - 2017
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26602
Subject(s) - horseshoe kidney , gene duplication , cancer research , medicine , malignancy , clear cell sarcoma , kidney , sarcoma , biology , gene , pathology , genetics
Clear cell sarcoma of kidney (CCSK) is a rare renal malignancy, previously unreported in horseshoe kidney (HSK). B‐cell lymphoma 6 corepressor ( BCOR ) gene internal tandem duplication (ITD) was identified as a recurrent somatic alteration in approximately 85% of CCSKs. This and the YWHAE–NUTM2B/E fusion, the second most common recurrent molecular alteration in CCSK (10%), are considered to be mutually exclusive. However, there is a subset of CCSKs that do not harbor either the BCOR ‐ITD or YWHAE–NUTM2 translocation and lack known molecular alterations. Herein, we report the first case of CCSK arising in HSK and harboring epidermal growth factor receptor ITD.