An unusual fusion gene <scp><i>EML4</i>‐<i>ALK</i></scp> in a patient with congenital mesoblastic nephroma

Mišove, Adéla; Vícha, Aleš; Zápotocký, Michal; Malis, J; Balko, Jan; Němečková, Tereza; Szabová, Jana; Kynčl, Martin; Nováková-Kodetová, Daniela; Stolova, Lucie; Jencova, Pavla; Brož, Petr; Krsková, Lenka

doi:10.1002/gcc.22990

Cited by 5 publications

(1 citation statement)

References 24 publications

(67 reference statements)

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“…Cellular CMN and infantile fibrosarcoma (IFS) share similar histopathological features and chromosomal aberration [t(12; 15) (p13; q25)] resulting in ETV6::NTRK3 fusion gene ( 8 - 12 ). Currently, ETV6::NTRK3 and trisomy 11 are the most common genetic abnormalities in CMN ( 4 , 10 , 13 ); other rare genetic abnormalities include EML4::NTRK3 ( 14 ), EML4::ALK ( 15 ), EGFR::KDD ( 16 , 17 ) and BRAF internal duplication ( 18 ).…”

Section: Introductionmentioning

confidence: 99%

Poor outcome in congenital mesoblastic nephroma with TPM3::NTRK1 fusion: a case report from multi-disciplinary treatment to molecular tumor board

Sun,

Chen,

Xue

et al. 2024

Transl Pediatr

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Section: Introductionmentioning

confidence: 99%

Poor outcome in congenital mesoblastic nephroma with TPM3::NTRK1 fusion: a case report from multi-disciplinary treatment to molecular tumor board

Sun,

Chen,

Xue

et al. 2024

Transl Pediatr

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The significance of the fusion partner gene genomic neighborhood analysis in translocation‐defined tumors

Mosaieby

Martínek

Ondič

2022

Molec Gen & Gen Med

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Introduction This study presents a novel molecular parameter potentially co‐defining tumor biology—the total tumor suppressor gene (TSG) count at chromosomal loci harboring genes rearranged in fusion‐defined tumors. It belongs to the family of molecular parameters created using a black‐box approach. Method It is based on a public curated Texas TSG database. Its data are regrouped based on individual genes loci using another public database (Genecards). The total TSG count for NTRK ( NTRK1 ; OMIM: 191315; NTRK2 ; OMIM: 600456; NTRK3 ; OMIM: 191316), NRG1 (OMIM: 142445), and RET (OMIM: 164761) rearranged tumors in patients treated with a theranostic approach is calculated using the results of recently published studies. Results Altogether 138 loci containing at least three TSGs are identified. These include 21 “extremely hot” spots, with 10 to 28 TSGs mapping to a given locus. However, the study falls short of finding a correlation between tumor regression or patient survival and the TSG count owing to a low number of cases meeting the study criteria. Conclusion The total TSG count alone cannot predict the biology of translocation‐defined tumors. The addition of other parameters, including microsatellite instability (MSI), tumor mutation burden (TMB), homologous recombination repair deficiency (HRD), and copy number heterogeneity (CNH), might be helpful. Thus a multi‐modal data integration is advocated. We believe that large scale studies should evaluate the significance and value of the total TSG count.

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ALK rearrangements in infantile fibrosarcoma‐like spindle cell tumours of soft tissue and kidney

Tan

Al‐Ibraheemi²,

Arhens

et al. 2022

Histopathology

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ALK rearrangements in infantile fibrosarcoma-like spindle cell tumours of soft tissue and kidneyAims: Recurrent alterations in receptor tyrosine kinase (RTK) and downstream effectors are described in infantile fibrosarcoma (IFS)/cellular congenital mesoblastic nephroma (cCMN) and a subset of spindle cell sarcomas, provisionally designated 'NTRK-rearranged' spindle cell neoplasms. These two groups of tumours demonstrate overlapping morphologies and harbour alterations in NTRK1/2/3, RET, MET, ABL1, ROS1, RAF1 and BRAF, although their relationship is not fully elucidated. We describe herein a cohort of paediatric tumours with clinicopathological features not typical for inflammatory myofibroblastic tumour, but rather with similarities to cCMN/IFS harbouring ALK fusions. Methods and results: Clinicopathological features were assessed and partner agnostic targeted RNA sequencing on clinically validated platforms were performed.Tumours occurred in patients aged from 2 to 10 years (median age 2 years) with a 2:2 male to female ratio and an average size of 8.4 cm. Two tumours arose in soft tissues and two in the kidney. Morphological features included spindle to ovoid cells arranged in long fascicles or haphazardly within a myxoid to collagenised stroma; a subset of cases had either dilated, ectatic vessels or focal perivascular hyalinosis. By immunohistochemistry, all cases tested showed cytoplasmic expression of anaplastic lymphoma kinase (ALK) and one case demonstrated co-expression of CD34 and S100. Conclusions: This series of ALK-rearranged IFS-like tumours expands the spectrum of targetable kinases altered in these tumours and reinforces the potential overlap between IFS/cCMN-like tumours and the provisional entity of'NTRK-rearranged' spindle cell neoplasms.

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An unusual fusion gene EML4‐ALK in a patient with congenital mesoblastic nephroma

Cited by 5 publications

References 24 publications

Poor outcome in congenital mesoblastic nephroma with TPM3::NTRK1 fusion: a case report from multi-disciplinary treatment to molecular tumor board

Poor outcome in congenital mesoblastic nephroma with TPM3::NTRK1 fusion: a case report from multi-disciplinary treatment to molecular tumor board

The significance of the fusion partner gene genomic neighborhood analysis in translocation‐defined tumors

ALK rearrangements in infantile fibrosarcoma‐like spindle cell tumours of soft tissue and kidney

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