Soft tissue

General

Soft tissue and bone molecular



Last author update: 3 March 2023
Last staff update: 14 July 2023

Copyright: 2002-2024, PathologyOutlines.com, Inc.

PubMed Search: Molecular / cytogenetics soft tissue

Borislav A. Alexiev, M.D.
Jose G. Mantilla, M.D.
Page views in 2023: 4,014
Page views in 2024 to date: 550
Table of Contents
Definition / general | Acral fibromyxoma | Alveolar soft part sarcoma | Aneurysmal bone cyst, primary | Angiofibroma of soft tissue | Angiomatoid fibrous histiocytoma | Angiosarcoma, radiation associated | Cellular angiofibroma | Chondroblastoma | Chondroid lipoma of soft tissue | Chondromyxoid fibroma | Chondrosarcoma, myxoid, extraskeletal (EMC) | Chordoma, poorly differentiated | CIC rearranged sarcoma | Clear cell sarcoma | Dermatofibrosarcoma protuberans / giant cell fibroblastoma | Desmoid type fibromatosis | Desmoplastic fibroblastoma | Desmoplastic small round cell tumor | Endometrial stromal sarcoma | Epithelioid hemangioendothelioma | Epithelioid hemangioma | Epithelioid sarcoma | Ewing sarcoma / PNET, extraosseous | EWSR1::SMAD3 positive fibroblastic tumor | Fibrous hamartoma of infancy | Giant cell fibroblastoma | Giant cell tumor of bone | Glomus tumor | Infantile fibrosarcoma / mesoblastic nephroma | Inflammatory myofibroblastic tumor | Lipoma | Lipoma, spindle cell / pleomorphic | Liposarcoma, myxoid / round cell variants | Liposarcoma, well differentiated / dedifferentiated | Low grade fibromyxoid sarcoma / sclerosing epithelioid fibrosarcoma | Low grade osteosarcoma | Malignant melanotic nerve sheath tumor | Malignant peripheral nerve sheath tumor | Mesenchymal chondrosarcoma | Myoepithelioma of soft tissue | Myopericytoma, including myofibroma | Myositis ossificans and fibro-osseous pseudotumor of digits | Myxoinflammatory fibroblastic tumor | Neuromuscular choristoma | Nodular fasciitis | NTRK rearranged spindle cell neoplasm | Ossifying fibromyxoid tumor | Osteoid osteoma / osteoblastoma | Phosphaturic mesenchymal tumor | Pseudomyogenic hemangioendothelioma | Rhabdomyosarcoma, alveolar | Round cell sarcoma with EWSR1-non-ETS fusions | Sarcoma with BCOR genetic alterations | Sclerosing epithelioid fibrosarcoma | Spindle cell / sclerosing rhabdomyosarcoma | Superficial CD34 positive fibroblastic tumor | Synovial chondromatosis | Synovial sarcoma | Tenosynovial giant cell tumor | Board review style question #1 | Board review style answer #1 | Board review style question #2 | Board review style answer #2
Cite this page: Alexiev BA, Mantilla JG. Soft tissue and bone molecular. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/softtissuemolecular.html. Accessed February 23rd, 2024.
Definition / general
  • This topic contains characteristic molecular alterations for topics in our Soft tissue and Bone & joints chapters
  • The intent is not to catalog every alteration identified, just those that are considered characteristic
  • More information is listed in the linked topics
  • Most sarcomas are cytogenetically complex neoplasms
  • Recurrent genetic alterations are seen in a subset of bone and soft tissue neoplasms
    • Point mutations: detection may aid in diagnosis or allow targeted therapy
    • Chromosomal rearrangements: recurrent gene fusions can be useful for diagnosis
    • Copy number alterations
Acral fibromyxoma
Alveolar soft part sarcoma
Aneurysmal bone cyst, primary
Angiofibroma of soft tissue
Angiomatoid fibrous histiocytoma
Angiosarcoma, radiation associated
Cellular angiofibroma
Chondroblastoma
Chondroid lipoma of soft tissue
Chondromyxoid fibroma
Chondrosarcoma, myxoid, extraskeletal (EMC)
Chordoma, poorly differentiated
CIC rearranged sarcoma
Clear cell sarcoma
Dermatofibrosarcoma protuberans / giant cell fibroblastoma
Desmoid type fibromatosis
Desmoplastic fibroblastoma
Desmoplastic small round cell tumor
Endometrial stromal sarcoma
Epithelioid hemangioma
Epithelioid sarcoma
Ewing sarcoma / PNET, extraosseous
  • t(11;22)(q24;q12) - EWSR1::FLI1 fusion gene
  • t(2;22)(q33;q12) - EWSR1::FEV fusion gene
  • t(7,22)(p22;q12) - EWSR1::ETV1 fusion gene
  • t(17;22)(q12;q12) - EWSR1::ETV4 fusion gene
  • t(21;22)(q22;q12) - EWSR1::ERG fusion gene
  • t(16;21)(p11;q22) - FUS::ERG fusion gene
  • See Ewing sarcoma / PNET, extraosseous
  • Reference: Int J Mol Sci 2018;19:3784
Fibrous hamartoma of infancy
Giant cell fibroblastoma
Giant cell tumor of bone
Glomus tumor
Infantile fibrosarcoma / mesoblastic nephroma
Inflammatory myofibroblastic tumor
Lipoma
  • t(12;14)(q13-15;q23-24) or related changes involving HMGA2 / HMGIC at 12q13-15
  • See Lipoma
Lipoma, spindle cell / pleomorphic
Liposarcoma, myxoid / round cell variants
Liposarcoma, well differentiated / dedifferentiated
Low grade fibromyxoid sarcoma / sclerosing epithelioid fibrosarcoma
Low grade osteosarcoma
Malignant melanotic nerve sheath tumor
Malignant peripheral nerve sheath tumor
Mesenchymal chondrosarcoma
Myoepithelioma of soft tissue
Myopericytoma, including myofibroma
Myositis ossificans and fibro-osseous pseudotumor of digits
Myxoinflammatory fibroblastic tumor
Neuromuscular choristoma
Nodular fasciitis
NTRK rearranged spindle cell neoplasm
  • NTRK rearranged mesenchymal neoplasms show variable morphologic patterns, including lipofibromatosis-like neural tumor, solitary fibrous tumor-like, inflammatory myofibroblastic tumor-like, infantile fibrosarcoma, dermatofibrosarcoma protuberans-like and malignant peripheral nerve sheath tumor-like spindle cell neoplasms and various histologic grades from low to high grade, as well as benign forms (Mod Pathol 2021;34:396)
  • Pan-TRK IHC is a reliable diagnostic marker that can be used as a surrogate marker for identification of NTRK fusion in the appropriate setting (young age, morphology) to help discover these rare tumors
  • Expensive RNA based next generation sequencing (NGS) to detect / confirm specific fusions needs to be performed if patients are candidates for targeted therapy
  • Name may change in the future to kinase rearranged spindle cell neoplasm
  • May also have mutations in BRAF, RAF, RET, ALK (Am J Surg Pathol 2018;42:28, Genes Chromosomes Cancer 2018;57:611, Mod Pathol 2021;34:1710)
  • See Pan-TRK (EPR17341) [NTRK]
Ossifying fibromyxoid tumor
Osteoid osteoma / osteoblastoma
Phosphaturic mesenchymal tumor
Pseudomyogenic hemangioendothelioma
Rhabdomyosarcoma, alveolar
Round cell sarcoma with EWSR1-non-ETS fusions
Sarcoma with BCOR genetic alterations
  • BCOR::CCNB3 sarcoma (BCS) is a recently defined genetic entity among undifferentiated round cell sarcomas, initially classified as and treated similarly to the Ewing sarcoma (ES) family of tumors
  • In contrast to ES, BCS shows consistent BCOR overexpression and preliminary evidence suggests that these tumors share morphologic features with other tumors harboring BCOR genetic alterations, including BCOR internal tandem duplication (ITD) and BCOR::MAML3 (Am J Surg Pathol 2018;42:604)
  • BCOR - BCL6 transcriptional corepressor is located at Xp11.4 locus (Genes Dev 2000;14:1810, J Clin Pathol 2020;73:314)
  • See BCOR
Sclerosing epithelioid fibrosarcoma
Spindle cell / sclerosing rhabdomyosarcoma
Superficial CD34 positive fibroblastic tumor
Synovial chondromatosis
Synovial sarcoma
Tenosynovial giant cell tumor
Board review style question #1

Which of the following is true about atypical lipomatous tumor / well differentiated liposarcoma?

  1. Absence of MDM2 amplification
  2. FUS::DDIT3 or EWSR1::DDIT3 fusions are almost always present
  3. Loss of RB1 expression is observed in 50 - 70% of cases
  4. MDM2 amplification is almost always present
  5. Usually harbors USP6 rearrangement
Board review style answer #1
D. MDM2 amplification is almost always present

Comment Here

Reference: Soft tissue and bone molecular
Board review style question #2

The most common gene rearranged in ossifying fibromyxoid tumor is

  1. EWSR1
  2. FOS
  3. FUS
  4. NOTCH
  5. PHF1
Board review style answer #2
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