TY - JOUR
T1 - A cytogenetic analysis of 2 cases of phosphaturic mesenchymal tumor of mixed connective tissue type
AU - Graham, Rondell P.
AU - Hodge, Jennelle C.
AU - Folpe, Andrew L.
AU - Oliveira, Andre M.
AU - Meyer, Kevin J.
AU - Jenkins, Robert B.
AU - Sim, Franklin H.
AU - Sukov, William R.
PY - 2012/8/1
Y1 - 2012/8/1
N2 - Phosphaturic mesenchymal tumor of mixed connective tissue type is a rare, histologically distinctive mesenchymal neoplasm associated with tumor-induced osteomalacia resulting from production of the phosphaturic hormone fibroblast growth factor 23. Because of its rarity, specific genetic alterations that contribute to the pathogenesis of these tumors have yet to be elucidated. Herein, we report the abnormal karyotypes from 2 cases of confirmed phosphaturic mesenchymal tumor of mixed connective tissue type. G-banded analysis demonstrated the first tumor to have a karyotype of 46,Y,t(X;3;14)(q13;p25;q21) [15]/46XY[5], and the second tumor to have a karyotype of 46, XY,add(2)(q31),add(4)(q31.1)[2]/92,slx2[3]/46,sl,der(2)t(2;4)(q14.2;p14),der(4) t(2;4)(q14.2;p14),add(4)(q31.1)[10]/46,sdl,add(13)(q34)[4]/92,sdl2x2[1]. These represent what is, to our knowledge, the first examples of abnormal karyotypes obtained from phosphaturic mesenchymal tumor of mixed connective tissue type.
AB - Phosphaturic mesenchymal tumor of mixed connective tissue type is a rare, histologically distinctive mesenchymal neoplasm associated with tumor-induced osteomalacia resulting from production of the phosphaturic hormone fibroblast growth factor 23. Because of its rarity, specific genetic alterations that contribute to the pathogenesis of these tumors have yet to be elucidated. Herein, we report the abnormal karyotypes from 2 cases of confirmed phosphaturic mesenchymal tumor of mixed connective tissue type. G-banded analysis demonstrated the first tumor to have a karyotype of 46,Y,t(X;3;14)(q13;p25;q21) [15]/46XY[5], and the second tumor to have a karyotype of 46, XY,add(2)(q31),add(4)(q31.1)[2]/92,slx2[3]/46,sl,der(2)t(2;4)(q14.2;p14),der(4) t(2;4)(q14.2;p14),add(4)(q31.1)[10]/46,sdl,add(13)(q34)[4]/92,sdl2x2[1]. These represent what is, to our knowledge, the first examples of abnormal karyotypes obtained from phosphaturic mesenchymal tumor of mixed connective tissue type.
KW - Cytogenetics
KW - Phosphaturic mesenchymal tumor
UR - http://www.scopus.com/inward/record.url?scp=84863987307&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84863987307&partnerID=8YFLogxK
U2 - 10.1016/j.humpath.2011.11.020
DO - 10.1016/j.humpath.2011.11.020
M3 - Article
C2 - 22503486
AN - SCOPUS:84863987307
SN - 0046-8177
VL - 43
SP - 1334
EP - 1338
JO - Human Pathology
JF - Human Pathology
IS - 8
ER -