TY - JOUR
T1 - The t(1;10)(p22;q24) TGFBR3/MGEA5 translocation in pleomorphic hyalinizing angiectatic tumor, myxoinflammatory fibroblastic sarcoma, and hemosiderotic fibrolipomatous tumor
AU - Liu, Huifei
AU - Sukov, William R.
AU - Ro, Jae Y.
N1 - Publisher Copyright:
© 2019 College of American Pathologists. All Rights Reserved.
PY - 2019/2
Y1 - 2019/2
N2 - Context.—Pleomorphic hyalinizing angiectatic tumor (PHAT) of soft parts, hemosiderotic fibrolipomatous tumor (HFLT), and myxoinflammatory fibroblastic sarcoma (MIFS) are 3 distinct entities of low-grade spindle cell mesenchymal neoplasm. These tumors have similar clinical presentations and partially overlapping but distinctive pathologic features. A recurrent translocation, t(1;10)(p22;q24), has been detected in a subset of PHAT, HFLT, MIFS, and HFLT/MIFS hybrid cases. Translocation t(1;10)(p22;q24) involves transforming growth factor b-receptor 3 (TGFBR3) and meningioma-expressed antigen 5 (MGEA5) genes on chromosomes 1p22 and 10q24, respectively. However, the percentage of translocation in PHAT, HFLT, and MIFS varies significantly among different studies. The relationship among these tumors has been a controversial topic among experts. Objective.—To discuss the diagnostic and functional significance of translocation t(1;10)(p22;q24) TGFBR3/ MGEA5 rearrangement in HFLT, PHAT, and MIFS. Data Sources.—PubMed was used for this study. Conclusions.—Diagnosis of HFLT, PHAT, and MIFS is challenging because of a lack of unique morphologic, immunophenotypic, molecular, and cytogenetic markers. The recurrent t(1;10)(p22;q24) translocation and/or TGFBR3/MGEA5 rearrangement was reported in 55 patients, with a relatively even distribution among HFLT, PHAT, and MIFS (17 HFLT, 15 MIFS, 13 MIFS/HFLT, and 10 PHAT). This indicates that current morphology-based diagnostic criteria do not identify reliably the subset of soft tissue tumor with t(1;10) translocation. Genetic heterogeneity of these tumors is supported by the recent detection of a mutually exclusive, second recurrent genetic change, t(7;17) TOM1L2-BRAF translocation or BRAF amplification, in a subset of MIFS.
AB - Context.—Pleomorphic hyalinizing angiectatic tumor (PHAT) of soft parts, hemosiderotic fibrolipomatous tumor (HFLT), and myxoinflammatory fibroblastic sarcoma (MIFS) are 3 distinct entities of low-grade spindle cell mesenchymal neoplasm. These tumors have similar clinical presentations and partially overlapping but distinctive pathologic features. A recurrent translocation, t(1;10)(p22;q24), has been detected in a subset of PHAT, HFLT, MIFS, and HFLT/MIFS hybrid cases. Translocation t(1;10)(p22;q24) involves transforming growth factor b-receptor 3 (TGFBR3) and meningioma-expressed antigen 5 (MGEA5) genes on chromosomes 1p22 and 10q24, respectively. However, the percentage of translocation in PHAT, HFLT, and MIFS varies significantly among different studies. The relationship among these tumors has been a controversial topic among experts. Objective.—To discuss the diagnostic and functional significance of translocation t(1;10)(p22;q24) TGFBR3/ MGEA5 rearrangement in HFLT, PHAT, and MIFS. Data Sources.—PubMed was used for this study. Conclusions.—Diagnosis of HFLT, PHAT, and MIFS is challenging because of a lack of unique morphologic, immunophenotypic, molecular, and cytogenetic markers. The recurrent t(1;10)(p22;q24) translocation and/or TGFBR3/MGEA5 rearrangement was reported in 55 patients, with a relatively even distribution among HFLT, PHAT, and MIFS (17 HFLT, 15 MIFS, 13 MIFS/HFLT, and 10 PHAT). This indicates that current morphology-based diagnostic criteria do not identify reliably the subset of soft tissue tumor with t(1;10) translocation. Genetic heterogeneity of these tumors is supported by the recent detection of a mutually exclusive, second recurrent genetic change, t(7;17) TOM1L2-BRAF translocation or BRAF amplification, in a subset of MIFS.
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U2 - 10.5858/arpa.2017-0412-RA
DO - 10.5858/arpa.2017-0412-RA
M3 - Review article
C2 - 29979612
AN - SCOPUS:85060394989
SN - 0003-9985
VL - 143
SP - 212
EP - 221
JO - Archives of Pathology and Laboratory Medicine
JF - Archives of Pathology and Laboratory Medicine
IS - 2
ER -