Mesenchymal tumors unique to the liver
2024-09-10 Paola Dal Cin, PhD , Rita Alaggio, MD Affiliation1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
2.IRCCS Ospedale Bambino Gesu', Roma (Italy)
Keywords
mesenchymal hamartoma, C19MC, MALAT1,embryonal sarcoma ,hemangioma, WWTR1::CAMTA1,YAP1::TFE3Classification
Definition
Primary mesenchymal neoplasms that are specific to the liver are uncommon and include mesenchymal hamartoma (MA) of the liver, (undifferentiated) embryonal sarcoma of the liver and calcifying nested stromal-epithelial tumor. 1,2 Both mesenchymal hamartoma and embryonal sarcoma of the liver are related tumor types since both harbor 19q microRNA cluster (C19MC) rearrangements at 19q13.4, mainly involving MALAT1 by t(11;19)(q13;q13.4). MA may rarely undergo malignant transformation into undifferentiated embryonal sarcoma by acquiring additional mutations/loss including on TP53. 3
Hemangiomas (infantile and congenital) are the most common vascular tumors of the liver. Rare cases of hepatic hemangiomas with malignant evolution have been reported. 4,5
While WWTR1::CAMTA1 and YAP1::TFE3 fusions have been associated with epithelioid hemangioendothelioma, there are currently no known signature genetic alterations seen in pediatric hepatic angiosarcoma. 6
| Pediatric digestive system tumors | |
|---|---|
| Pediatric mesenchymal tumors unique to the liver | Genetic marker(s) |
| Hepatic mesenchymal hamartoma (HMH) | It is lesion predominantly seen in the first 2 years of life. Sporadic HMH lesions are frequently associated with a chromosomal 19q13.4 rearrangements which results in activation of chromosome 19q microRNA cluster (C19MC), mainly by rearrangement with MALAT1 at 11q13, by t(11;19)(q13;q13.4) . 7 While in placental mesenchymal dysplasia and Beckwith-Wiedemann syndrome, androgenetic-biparental mosaicism (ABM) activate 19 microRNA cluster (C19MC) by paternal uniparental disomy . 3 |
| Calcifying nested stromal-epithelial tumor CNSET | Co-occurence of CTNNB1 alterations, including exon 3 deletions and acyivating points mutations, and TERT promotor mutations were detected, suggesting that CNSET might perhaps be more aggressive than previously reported. 8 An association between CNSET and Beckwith–Wiedemann syndrome has been also reported.9 |
| Hepatic embryonal sarcoma (HES) | It is malignant lesion, usually identified in patients between 6 and 10 years of age. Comparative genomic hybridization (CGH) studies reveales copy number alterations include gains of 1q, 5p, 6q region and losses 14q, 9p and 11p regions. However, rearrangements of 19q13.4)(C19MC) and 11q13 MALAT1 seen mesenchymal hamartoma(HMH) are also observed in the malignant (or more undifferentiated) areas of embryonal sarcoma,combined with TP53 mutation or loss, suggesting that some cases of HMH may indeed undergo malignant transformation into HES. 3,10 |
| Hepatic congenital hemangioma (HCH) | Recurrent mutations GNA11, GNAQ and/or PIK3CA were detected. 11,12 |
| Hepatic infantile hemangioma (HIH) | The pathogenesis of IHH is not fully understood, but a possible role of GLUT1, marker that distinguishes IHH from congenital hepatic hemangioma, which is GLUT1 negative. 13 |
| Hepatic angiosarcoma | There are currently no known signature genetic alterations seen in pediatric hepatic angiosarcoma. 6 |
| Hepatic malignant vascular tumors | Pediatric hepatic epithelioid hemangioendothelioma shows a female predominance .14 Rare reports , so far, with WWTR1::CAMTA1 and YAP1::TFE3 fusions 6,14 |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 37536892 | 2023 | Mesenchymal Neoplasms of the Liver. | Papke DJ Jr et al |
| 2 | 38066766 | 2023 | Update on the Pathology of Pediatric Liver Tumors: A Pictorial Review. | Bhagat P et al |
| 3 | 32647564 | 2020 | Hepatic mesenchymal hamartoma and undifferentiated embryonal sarcoma of the liver: a pathologic review. | Martins-Filho SN et al |
| 4 | 21832953 | 2011 | Widening spectrum of liver angiosarcoma in children. | Ackermann O et al |
| 5 | 28521077 | 2017 | Clinical case series of pediatric hepatic angiosarcoma. | Grassia KL et al |
| 6 | 33889274 | 2021 | Primary malignant vascular tumors of the liver in children: Angiosarcoma and epithelioid hemangioendothelioma. | Bannoura S et al |
| 7 | 24120702 | 2013 | Characterization of translocations in mesenchymal hamartoma and undifferentiated embryonal sarcoma of the liver. | Mathews J et al |
| 8 | 33994539 | 2021 | Calcifying nested stromal-epithelial tumor: a clinicopathologic and molecular genetic study of eight cases highlighting metastatic potential and recurrent CTNNB1 and TERT promoter alterations. | Papke DJ Jr et al |
| 9 | 27965001 | 2017 | Calcifying nested stromal-epithelial tumor (CNSET) of the liver in Beckwith-Wiedemann syndrome. | Khoshnam N et al |
| 10 | 32310940 | 2020 | The genomic landscape of undifferentiated embryonal sarcoma of the liver is typified by C19MC structural rearrangement and overexpression combined with TP53 mutation or loss. | Setty BA et al |
| 11 | 27259057 | 2016 | Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma. | Ayturk UM et al |
| 12 | 32115227 | 2020 | Congenital hepatic hemangiomas: Clinical, histologic, and genetic correlation. | Triana P et al |
| 13 | 31758313 | 2020 | Infantile hepatic hemangioma: current state of the art, controversies, and perspectives. | Zavras N et al |
| 14 | 28598585 | 2017 | Epithelioid hemangioendotheliomas of the liver and lung in children and adolescents. | Hettmer S et al |
Citation
Paola Dal Cin, PhD ; Rita Alaggio, MD
Mesenchymal tumors unique to the liver
Atlas Genet Cytogenet Oncol Haematol. 2024-09-10
Online version: http://atlasgeneticsoncology.org/solid-tumor/209262/mesenchymal-tumors-unique-to-the-liver
