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t(10;17)(q22;p13)

MedGen UID:
925482
•Concept ID:
C4287950
•
Cell or Molecular Dysfunction

Definition

A cytogenetic abnormality that refers to the translocation of the long arm (q22) of chromosome 10 and the short arm (p13) of chromosome 17. It results in an YWHAE-FAM22 fusion. It has been described in high grade endometrial stromal sarcomas and a subset of clear cell sarcomas of the kidney. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVt(10;17)(q22;p13)

Recent clinical studies

Etiology

The clinical phenotype of YWHAE-NUTM2B/E positive pediatric clear cell sarcoma of the kidney.
Gooskens SL, Kenny C, Lazaro A, O'Meara E, van Tinteren H, Spreafico F, Vujanic G, Leuschner I, Coulomb-L'Herminé A, Perotti D, de Camargo B, Bergeron C, Acha García T, Tanaka M, Pieters R, Pritchard-Jones K, Graf N, van den Heuvel-Eibrink MM, O'Sullivan MJ
Genes Chromosomes Cancer 2016 Feb;55(2):143-7. Epub 2015 Nov 6 doi: 10.1002/gcc.22320. PMID: 26542179
Identification of a novel, recurrent MBTD1-CXorf67 fusion in low-grade endometrial stromal sarcoma.
Dewaele B, Przybyl J, Quattrone A, Finalet Ferreiro J, Vanspauwen V, Geerdens E, Gianfelici V, Kalender Z, Wozniak A, Moerman P, Sciot R, Croce S, Amant F, Vandenberghe P, Cools J, Debiec-Rychter M
Int J Cancer 2014 Mar 1;134(5):1112-22. Epub 2013 Sep 4 doi: 10.1002/ijc.28440. PMID: 23959973
The clinicopathologic features of YWHAE-FAM22 endometrial stromal sarcomas: a histologically high-grade and clinically aggressive tumor.
Lee CH, Mariño-Enriquez A, Ou W, Zhu M, Ali RH, Chiang S, Amant F, Gilks CB, van de Rijn M, Oliva E, Debiec-Rychter M, Dal Cin P, Fletcher JA, Nucci MR
Am J Surg Pathol 2012 May;36(5):641-53. doi: 10.1097/PAS.0b013e31824a7b1a. PMID: 22456610
Characterization of the chromosomal translocation t(10;17)(q22;p13) in clear cell sarcoma of kidney.
O'Meara E, Stack D, Lee CH, Garvin AJ, Morris T, Argani P, Han JS, Karlsson J, Gisselson D, Leuschner I, Gessler M, Graf N, Fletcher JA, O'Sullivan MJ
J Pathol 2012 May;227(1):72-80. Epub 2012 Feb 17 doi: 10.1002/path.3985. PMID: 22294382
Recurring translocation (10;17) and deletion (14q) in clear cell sarcoma of the kidney.
Brownlee NA, Perkins LA, Stewart W, Jackle B, Pettenati MJ, Koty PP, Iskandar SS, Garvin AJ
Arch Pathol Lab Med 2007 Mar;131(3):446-51. doi: 10.5858/2007-131-446-RTADQI. PMID: 17516747

Diagnosis

Endometrial stromal sarcomas and related neoplasms: new developments and diagnostic considerations.
Hoang L, Chiang S, Lee CH
Pathology 2018 Feb;50(2):162-177. Epub 2017 Dec 22 doi: 10.1016/j.pathol.2017.11.086. PMID: 29275929
YWHAE-rearranged high-grade endometrial stromal sarcoma: Two-center case series and response to chemotherapy.
Hemming ML, Wagner AJ, Nucci MR, Chiang S, Wang L, Hensley ML, George S
Gynecol Oncol 2017 Jun;145(3):531-535. Epub 2017 Apr 5 doi: 10.1016/j.ygyno.2017.03.021. PMID: 28390819Free PMC Article
Novel Karyotypes and Cyclin D1 Immunoreactivity in Clear Cell Sarcoma of the Kidney.
Jet Aw S, Hong Kuick C, Hwee Yong M, Wen Quan Lian D, Wang S, Liang Loh AH, Ling S, Lian Peh G, Yen Soh S, Pheng Loh AH, Hoon Tan P, Tou En Chang K
Pediatr Dev Pathol 2015 Jul-Aug;18(4):297-304. Epub 2015 Mar 9 doi: 10.2350/14-12-1581-OA.1. PMID: 25751590
YWHAE rearrangement identified by FISH and RT-PCR in endometrial stromal sarcomas: genetic and pathological correlations.
Croce S, Hostein I, Ribeiro A, Garbay D, Velasco V, Stoeckle E, Guyon F, Floquet A, Neuville A, Coindre JM, MacGrogan G, Chibon F
Mod Pathol 2013 Oct;26(10):1390-400. Epub 2013 Apr 19 doi: 10.1038/modpathol.2013.69. PMID: 23599159
Endometrial stromal sarcoma presenting as postpartum haemorrhage: report of a case with a sole t(10;17)(q22;p13) translocation.
Leunen K, Amant F, Debiec-Rychter M, Croes R, Hagemeijer A, Schoenmakers EF, Vergote I
Gynecol Oncol 2003 Oct;91(1):265-71. doi: 10.1016/s0090-8258(03)00477-3. PMID: 14529693

Therapy

YWHAE-rearranged high-grade endometrial stromal sarcoma: Two-center case series and response to chemotherapy.
Hemming ML, Wagner AJ, Nucci MR, Chiang S, Wang L, Hensley ML, George S
Gynecol Oncol 2017 Jun;145(3):531-535. Epub 2017 Apr 5 doi: 10.1016/j.ygyno.2017.03.021. PMID: 28390819Free PMC Article
Case report of a poorly differentiated uterine tumour with t(10;17) translocation and neuroectodermal phenotype.
Amant F, Tousseyn T, Coenegrachts L, Decloedt J, Moerman P, Debiec-Rychter M
Anticancer Res 2011 Jun;31(6):2367-71. PMID: 21737666

Prognosis

The clinical phenotype of YWHAE-NUTM2B/E positive pediatric clear cell sarcoma of the kidney.
Gooskens SL, Kenny C, Lazaro A, O'Meara E, van Tinteren H, Spreafico F, Vujanic G, Leuschner I, Coulomb-L'Herminé A, Perotti D, de Camargo B, Bergeron C, Acha García T, Tanaka M, Pieters R, Pritchard-Jones K, Graf N, van den Heuvel-Eibrink MM, O'Sullivan MJ
Genes Chromosomes Cancer 2016 Feb;55(2):143-7. Epub 2015 Nov 6 doi: 10.1002/gcc.22320. PMID: 26542179
Novel Karyotypes and Cyclin D1 Immunoreactivity in Clear Cell Sarcoma of the Kidney.
Jet Aw S, Hong Kuick C, Hwee Yong M, Wen Quan Lian D, Wang S, Liang Loh AH, Ling S, Lian Peh G, Yen Soh S, Pheng Loh AH, Hoon Tan P, Tou En Chang K
Pediatr Dev Pathol 2015 Jul-Aug;18(4):297-304. Epub 2015 Mar 9 doi: 10.2350/14-12-1581-OA.1. PMID: 25751590
The clinicopathologic features of YWHAE-FAM22 endometrial stromal sarcomas: a histologically high-grade and clinically aggressive tumor.
Lee CH, Mariño-Enriquez A, Ou W, Zhu M, Ali RH, Chiang S, Amant F, Gilks CB, van de Rijn M, Oliva E, Debiec-Rychter M, Dal Cin P, Fletcher JA, Nucci MR
Am J Surg Pathol 2012 May;36(5):641-53. doi: 10.1097/PAS.0b013e31824a7b1a. PMID: 22456610
Characterization of the chromosomal translocation t(10;17)(q22;p13) in clear cell sarcoma of kidney.
O'Meara E, Stack D, Lee CH, Garvin AJ, Morris T, Argani P, Han JS, Karlsson J, Gisselson D, Leuschner I, Gessler M, Graf N, Fletcher JA, O'Sullivan MJ
J Pathol 2012 May;227(1):72-80. Epub 2012 Feb 17 doi: 10.1002/path.3985. PMID: 22294382
Recurring translocation (10;17) and deletion (14q) in clear cell sarcoma of the kidney.
Brownlee NA, Perkins LA, Stewart W, Jackle B, Pettenati MJ, Koty PP, Iskandar SS, Garvin AJ
Arch Pathol Lab Med 2007 Mar;131(3):446-51. doi: 10.5858/2007-131-446-RTADQI. PMID: 17516747

Clinical prediction guides

Mutually exclusive BCOR internal tandem duplications and YWHAE-NUTM2 fusions in clear cell sarcoma of kidney: not the full story.
Kenny C, Bausenwein S, Lazaro A, Furtwängler R, Gooskens SL, van den Heuvel Eibrink M, Vokuhl C, Leuschner I, Graf N, Gessler M, O'Sullivan MJ
J Pathol 2016 Apr;238(5):617-20. doi: 10.1002/path.4693. PMID: 27000436
The clinical phenotype of YWHAE-NUTM2B/E positive pediatric clear cell sarcoma of the kidney.
Gooskens SL, Kenny C, Lazaro A, O'Meara E, van Tinteren H, Spreafico F, Vujanic G, Leuschner I, Coulomb-L'Herminé A, Perotti D, de Camargo B, Bergeron C, Acha García T, Tanaka M, Pieters R, Pritchard-Jones K, Graf N, van den Heuvel-Eibrink MM, O'Sullivan MJ
Genes Chromosomes Cancer 2016 Feb;55(2):143-7. Epub 2015 Nov 6 doi: 10.1002/gcc.22320. PMID: 26542179
Novel Karyotypes and Cyclin D1 Immunoreactivity in Clear Cell Sarcoma of the Kidney.
Jet Aw S, Hong Kuick C, Hwee Yong M, Wen Quan Lian D, Wang S, Liang Loh AH, Ling S, Lian Peh G, Yen Soh S, Pheng Loh AH, Hoon Tan P, Tou En Chang K
Pediatr Dev Pathol 2015 Jul-Aug;18(4):297-304. Epub 2015 Mar 9 doi: 10.2350/14-12-1581-OA.1. PMID: 25751590

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