Inflammatory myofibroblastic tumor in children: Diagnosis and treatment

Karnak, İbrahìm; Şenocak, Mehmet Emìn; Çiftçi, Arbay Ö.; Çağlar, Melda; Bingöl-Koloğlu, Meltem; Tanyel, Feridun Cahit; Büyükpamukçu, Nebìl

doi:10.1053/jpsu.2001.23970

Cited by 249 publications

(251 citation statements)

References 17 publications

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“…IMTs can arise anywhere in the body, but are particularly common in the mesentery, omentum and lung. 1 Surgery with radical margins is usually curative, but in rare cases an IMT may metastasize. [2][3][4] Cytogenetic analyses have shown that a subset of IMTs harbors clonal chromosomal rearrangements involving band 2p23.…”

mentioning

confidence: 99%

Fusion of the SEC31L1 and ALK genes in an inflammatory myofibroblastic tumor

Panagopoulos

Nilsson

Domanski

et al. 2005

Intl Journal of Cancer

117

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Inflammatory myofibroblastic tumor (IMT) is a neoplasm composed of myofibroblastic spindle cells and infiltrating inflammatory cells. Cytogenetic analyses have revealed that a subgroup of IMT, in particular among children and young adults, harbors clonal chromosomal rearrangements involving chromosome band 2p23. Further, molecular genetic studies have shown that these rearrangements target the ALK gene, serving as the 3 0 -partner in fusion genes with various translocation partners. In the present study, we describe the finding of a novel SEC31L1/ALK fusion gene in an intraabdominal IMT of a young man. G-band analysis revealed a translocation t(2;4)(p23;q21) and subsequent fluorescence in situ hybridization with locus-specific probes strongly indicated disruption of the ALK locus on chromosome 2. Immunostaining with monoclonal mouse anti-human CD246 ALK Protein showed diffuse cytoplasmic positivity. Using reverse primers for the ALK-gene, we could, by 5 0 -RACE methodology, amplify a single 1.2 kb fragment. Sequence analysis showed that the fragment was a hybrid cDNA product in which nt 3012 of SEC31L1 (NM_016211), located in band 4q21, was fused in-frame to nt 4080 of ALK (NM_004304). RT-PCR with two sets of primer pairs specific for SEC31L1 and ALK amplified two transcripts, which at sequencing corresponded to two types of chimeric SEC31L1/ALK transcripts. In the long, type I, transcript nt 3012 of SEC31L1 (NM_016211) was fused in-frame to nt 4080 of ALK. In the short, type II, transcript nt 2670 of SEC31L1 was fused in-frame to nt 4080 of ALK. Genomic PCR and subsequent sequencing showed that the breakpoints were located in intron 23 of SEC31L1 and intron 20 of ALK. ' 2005 Wiley-Liss, Inc.Key words: ALK gene fusion; SEC31L1; myofibroblastic tumor Inflammatory myofibroblastic tumor (IMT) is a distinctive neoplasm composed of varying proportions of myofibroblastic spindle cells, inflammatory cells and collagen fibers. IMTs can arise anywhere in the body, but are particularly common in the mesentery, omentum and lung. 1 Surgery with radical margins is usually curative, but in rare cases an IMT may metastasize. [2][3][4] Cytogenetic analyses have shown that a subset of IMTs harbors clonal chromosomal rearrangements involving band 2p23. In 1999, Griffin and co-workers demonstrated that such 2p23-rearrangements target the ALK locus and result in the creation of various fusion genes containing the catalytic domain of ALK. 5 So far, 6 ALK fusion partners have been described in IMTs: ATIC (at 2q35), CARS (at 11p15), CLTC (at 17q23), RANBP2 (at 2q13), TMP3 (at 1p23) and TMP4 (at 19p13) 2,6-12 Immunohistostochemical studies have detected ALK expression in 40-60% of IMTs. 11,12 In the present study, we describe the cytogenetic and molecular characterization of an IMT with a novel fusion gene, SEC31L1/ALK. Material and methods Case history and histopathologyA 23-year-old man was admitted to hospital, with a three-day history of fever and lower abdominal pain. Hemoglobin and white blood cell counts were normal and CRP slig...

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mentioning

confidence: 99%

Fusion of the SEC31L1 and ALK genes in an inflammatory myofibroblastic tumor

Panagopoulos

Nilsson

Domanski

et al. 2005

Intl Journal of Cancer

117

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“…This is believed to be the first case report of an exophytic gastric IMT that spontaneously bled into the peritoneal cavity and developed into hemoperitoneum. The present case can be compared with other intraabdominal IMTs that present with an abdominal mass and related compressive symptoms, such as abdominal pain and vomiting [3,[15][16][17][18] . Most IMTs require surgery to obtain defi nite diagnosis and cure.…”

Section: Discussionmentioning

confidence: 90%

Exophytic inflammatory myofibroblastic tumor of the stomach in an adult woman: A rare cause of hemoperitoneum

Park

Kim²,

Min

et al. 2008

WJG

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“…The data obtained thus far mainly concern the pediatric population (15) and no standard regimen for adult IMT has been established. Various active regimens have been reported, such as methotrexate plus vinorelbine, vincristine plus etoposide, cisplatin/carboplatin-based regimens, and ifosfamide-based regimens (8, 10, 16, 17), how-ever these are mostly old drugs.…”

Section: Discussionmentioning

confidence: 99%

Carboplatin plus Paclitaxel in the Successful Treatment of Advanced Inflammatory Myofibroblastic Tumor

et al. 2012

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A 26-year-old man with unresectable inflammatory myofibroblastic tumor (IMT) presented with multiple metastases in the thoracic vertebra and lymph nodes as detected by positron emission tomography (PET) received chemotherapy with carboplatin plus paclitaxel. After three cycles of chemotherapy, fluorine-18-fluorodeoxyglucose (FDG)-PET/CT revealed tumor regression and significant reduction of FDG uptake in all lesions. The patient received six cycles of chemotherapy without any severe adverse event, and there was no sign of disease progression for seven months. This regimen is well tolerated and may be considered the treatment of choice for unresectable IMT.

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Inflammatory myofibroblastic tumor in children: Diagnosis and treatment

Cited by 249 publications

References 17 publications

Fusion of the SEC31L1 and ALK genes in an inflammatory myofibroblastic tumor

Fusion of the SEC31L1 and ALK genes in an inflammatory myofibroblastic tumor

Exophytic inflammatory myofibroblastic tumor of the stomach in an adult woman: A rare cause of hemoperitoneum

Carboplatin plus Paclitaxel in the Successful Treatment of Advanced Inflammatory Myofibroblastic Tumor

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