A cytogenetic analysis of 2 cases of phosphaturic mesenchymal tumor of mixed connective tissue type

Rondell P. Graham, Jennelle C. Hodge, Andrew L. Folpe, Andre M. Oliveira, Kevin J. Meyer, Robert B. Jenkins, Franklin H. Sim, William R. Sukov

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1334-1338
Number of pages5
JournalHuman Pathology
Volume43
Issue number8
DOIs
StatePublished - Aug 1 2012

Keywords

  • Cytogenetics
  • Phosphaturic mesenchymal tumor

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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