Soft Tissues: Inflammatory myofibroblastic tumor
2003-08-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Epidemiology
found in children and young adults
Clinics
occurs in the soft tissue and viscera; the tumour is localized in lungs, mesentery, retroperitoneum, and pelvis.
Pathology
spindle cell proliferation with myofibroblastic differenciation with a collagen stroma and an inflammatory infiltrate of lymphocytes, eosinophils, and plasma cells
Treatment
surgical excision
Prognosis
This tumour has an indeterminate or low malignant potential; tumour related deaths (occuring in less than 10% of cases) are due to local invasion, not to distant metastases
Cytogenetics
Cytogenetics morphological
So far, t(1;2)(q25;p23), t(2;2)(p23;q13), t(2;11)(p23;p15), t(2;17)(p23;q23), and t(2;19)(p23;p13.1) have been described; the t(1;2)(q25;p23) with TPM3 involvement would be the most frequent.
Genetics
Note
about one 50 to 60 % of the cases present with a 2p23 rearrangement involving the gene ALK; this subset of tumours should have a different genetic background, and may have a different behaviour, in terms of epidemiology (younger age?), prognosis ...
Genes Involved and Proteins
Note
these translocations involve ALK in 2p23, and either TPM3 in 1q25, CLTC in 17q23, or TPM4 in 19p13
Gene name
ALK (anaplastic lymphoma receptor tyrosine kinase)
Location
2p23.2
Protein description
1620 amino acids; 177 kDa; glycoprotein (200 kDa mature protein) ; membrane associated tyrosine kinase receptor
Gene name
TPM3 (tropomyosin 3)
Location
1q21.3
Protein description
284 amino acids, 33 kDa; coiled coil structure; role in Calcium dependant actin-myosin interaction
Gene name
RANBP2 (RAN binding protein 2)
Location
2q12.3
Protein description
3224 amino acids, 358 kDa; nuclear pore protein involved in nuclear export
Gene name
CARS (cysteinyj-tRNA synthetase)
Location
11p15.4
Gene name
CLTC (clathrin heavy polypeptide)
Location
17q23.1
Protein description
1675 amino acids, 191 kDa; mediate endocytosis of transmembrane receptors.
Gene name
TPM4 (tropomyosin)
Location
19p13.12
Protein description
248 amino acids, 29 kDa; coiled coil structure
Result of the chromosomal anomaly
Description
5 partner - 3 ALK
Description
N-term amino acids from the partner gene fused to the 562 C-term amino acids from ALK (i.e. the entire cytoplasmic portion of ALK with the tyrosine kinase domain); homodimerization of the fusion protein is known or suspected.
To be Noted
Note
ALK and some of the above ALK partners, or closely related genes, are found implicated both in anaplasic large cell lymphoma and in inflammatory myofibroblastic tumours; this is a new concept, that 2 different types of tumour may result from the same chromosomal/genes
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11485898 | 2001 | Fusion of the ALK gene to the clathrin heavy chain gene, CLTC, in inflammatory myofibroblastic tumor. | Bridge JA et al |
| 11684952 | 2001 | Anaplastic lymphoma kinase (ALK) expression in the inflammatory myofibroblastic tumor: a comparative immunohistochemical study. | Cook JR et al |
| 12112524 | 2002 | Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor. | Cools J et al |
| 10383129 | 1999 | Recurrent involvement of 2p23 in inflammatory myofibroblastic tumors. | Griffin CA et al |
| 10934137 | 2000 | Aberrant ALK tyrosine kinase signaling. Different cellular lineages, common oncogenic mechanisms. | Ladanyi M et al |
| 10934142 | 2000 | TPM3-ALK and TPM4-ALK oncogenes in inflammatory myofibroblastic tumors. | Lawrence B et al |
| 12661011 | 2003 | Fusion of ALK to the Ran-binding protein 2 (RANBP2) gene in inflammatory myofibroblastic tumor. | Ma Z et al |
| 11284039 | 2001 | ALK probe rearrangement in a t(2;11;2)(p23;p15;q31) translocation found in a prenatal myofibroblastic fibrous lesion: toward a molecular definition of an inflammatory myofibroblastic tumor family? | Sirvent N et al |
Citation
Jean-Loup Huret
Soft Tissues: Inflammatory myofibroblastic tumor
Atlas Genet Cytogenet Oncol Haematol. 2003-08-01
Online version: http://atlasgeneticsoncology.org/solid-tumor/5073/soft-tissues-inflammatory-myofibroblastic-tumor
Historical Card
2001-08-01 Soft Tissues: Inflammatory myofibroblastic tumor by Jean-Loup Huret Affiliation
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
