Mesenchymal hamartoma of the liver originating in the caudate lobe with t(11;19)(q13;q13.4): Report of a case

Sugito, Kiminobu; Kawashima, Hiroyuki; Uekusa, Shota; Inoue, Masatoshi; Ikeda, Taro; Kusafuka, Takeshi

doi:10.1007/s00595-009-4003-z

Cited by 13 publications

(5 citation statements)

References 19 publications

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“…The frequent documentation of chromosomal rearrangements involving chromosome 19q13.4 in sporadic HMH suggests involvement of 1 or more genes at this specific locus [17][18][19][20][21][22][23][24][25][26][27][28][29][30]. The most frequently reported rearrangements are translocations between chromosomes 11q and 19q13.4, one of which was characterized and *Corresponding author, e-mail: raj.kapur@seattlechildrens.org shown to involve the MALAT1 gene at 11q13 and a site at 19q13.4, which initially did not contain an identifiable gene [26].…”

Section: Introductionmentioning

confidence: 99%

Activation of the Chromosome 19q MicroRNA Cluster in Sporadic and Androgenetic-Biparental Mosaicism–Associated Hepatic Mesenchymal Hamartoma

et al. 2014

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Recurrent genetic alterations found in hepatic mesenchymal hamartoma include either androgenetic-biparental mosaicism or chromosomal rearrangements involving chromosome 19q13.4, in the vicinity of the chromosome 19q microRNA cluster (C19MC). Abnormal activation of C19MC, which is subject to paternal imprinting and is normally expressed only in placenta, could account for both genetic associations because androgenetic cells carry only paternal chromosomes. In this study, a 4.2-Mb deletion involving the 5'-end of C19MC was detected in a sporadic mesenchymal hamartoma by chromosomal microarray. Fluorescence in situ hybridization studies showed that the deletion localized to mesenchymal cells in the stroma of the hamartoma. Quantitative real-time polymerase chain reaction analysis of this tumor, 9 other sporadic hepatic mesenchymal hamartomas, and 3 hamartomas associated with androgenetic-biparental mosaicism demonstrated C19MC microRNA expression in all but 2 sporadic cases, with no significant expression in control liver. The findings support a pathogenetic model for mesenchymal hamartoma as a consequence of "ectopic" activation of C19MC in hepatic stroma, due to either chromosomal rearrangements or paternal uniparental disomy.

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Section: Introductionmentioning

confidence: 99%

Activation of the Chromosome 19q MicroRNA Cluster in Sporadic and Androgenetic-Biparental Mosaicism–Associated Hepatic Mesenchymal Hamartoma

et al. 2014

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“…It has been suggested that this aberration occurs late in embryogenesis, because the liver adjacent to the lesion has a normal architecture [2]. Others assume that it is a true neoplastic process; indeed, cytogenetic abnormalities have been found in some cases of liver hamartom as chromosomal translocations involving a break in the long arm of chromosome 19 (band 19q13.4) [3] Mesenchymal hamartoma of the liver occurs in the right liver lobe in approximately 75% of all cases,others occur in the left lobe; the tumor involvement of both lobes is less than 5% [4].Mesenchymal hamartoma of the liver: a systematic review. [5] Excision may be by conventional hepatic resection or by nonanatomical excision with a small margin of normal liver.…”

Section: Discussionmentioning

confidence: 99%

Mesenchymal hamartoma of the liver

Hajar Dardar,

Zineb Oudrhiri,

Othmane Alaoui

et al. 2024

World J. Adv. Res. Rev.

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A 4-year-old girl was diagnosed with cystic mesenchymal hamartoma, a rare benign tumor of the pediatric liver. Initial imaging studies and subsequent anatomopathological examination confirmed the diagnosis. Clinical findings included an abdominal mass detected since age 1, progressive hepatomegaly, and normal systemic health without signs of cholestasis. Surgical resection was successful, with no postoperative complications observed at the 1-year follow-up. This case highlights the importance of considering cystic mesenchymal hamartoma in pediatric liver tumor diagnoses, particularly in cases with characteristic imaging features and absence of cholestasis.

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“…However, the observed translocation did not lead to any fusion genes. (11)t (11;19)(q13;q13), der (19)t (11;19) The chromosomal translocation t(11;19)(q13;q13) has also been reported as an acquired, recurrent genomic rearrangement in mesenchymal hamartoma of the liver, which is a rare benign tumor in children (23)(24)(25)(26)(27)(28). Molecular studies of such tumors showed that the t(11;19)(q13;q13) of mesenchymal hamartoma was associated with deregulation of gene expression (29)(30)(31).…”

Section: Discussionmentioning

confidence: 99%

Chronic Expanding Hematoma with a t(11;19)(q13;q13) Chromosomal Translocation

et al. 2019

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Background/Aim: Chronic expanding hematoma is defined as a hematoma that gradually expands over 1 month or longer, is without neoplastic features on histological sections, and does not occur in the setting of coagulopathy. The pathogenetic mechanism behind its development is unknown, nor is anything known about its genetic features. Case Report: A 49-year-old man noted a tender lump close to the right femoral trochanter. Examination of a core needle biopsy showed a fibrous capsule with fibrinoid material on one side. The patient underwent surgery with removal of a cystic, encapsulated structure with central bleeding and proliferating vessels in the fibrous capsule. The reactive fibroblasts were without any sign of atypia. Genetic analyses were performed on this chronic expanding hematoma. Results: G-Banding analysis of short-term cultured cells from the chronic expanding hematoma yielded a karyotype with a single clonal chromosome abnormality: 46,XY,t(11;19)(q13;q13)[8]/46,XY[10]. RNA sequencing and examination of the sequencing data using five different programs did not identify fusion genes related to the translocation. Conclusion: The acquired translocation t(11;19)(q13;q13) suggested that chronic expanding hematoma is a neoplastic lesion. Since the translocation did not lead to any fusion genes, one can speculate that it causes deregulation of gene expression.

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Mesenchymal hamartoma of the liver originating in the caudate lobe with t(11;19)(q13;q13.4): Report of a case

Cited by 13 publications

References 19 publications

Activation of the Chromosome 19q MicroRNA Cluster in Sporadic and Androgenetic-Biparental Mosaicism–Associated Hepatic Mesenchymal Hamartoma

Activation of the Chromosome 19q MicroRNA Cluster in Sporadic and Androgenetic-Biparental Mosaicism–Associated Hepatic Mesenchymal Hamartoma

Mesenchymal hamartoma of the liver

Chronic Expanding Hematoma with a t(11;19)(q13;q13) Chromosomal Translocation

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