Hepatic mesenchymal hamartoma with translocation involving chromosome band 19q13.4: A recurrent abnormality

ArticleinCancer Genetics and Cytogenetics 153(1):60-3 · September 2004with18 Reads
DOI: 10.1016/j.cancergencyto.2003.12.004 · Source: PubMed
Abstract
We report a case of mesenchymal hamartoma of the liver in an 8-month-old male child, in which the cytogenetic analysis revealed a balanced translocation, t(11;19)(q13;q13.4). This is the fifth description of a cytogenetic abnormality in mesenchymal hamartoma and is similar to the four cases reported previously in that one of the breakpoints involved chromosome band 19q13.4.
    • "Furthermore, to get insight into deregulation of chr.19 miRNA clusters, allelic CNV of 19q13.41–42 locus (Rakheja et al. 2004, Li et al. 2009a, Rippe et al. 2010) and the epigenetic status of C19MC promoter (Tsai et al. 2009) were investigated. Importantly, our cohort comprised five matched metastatic lesions of four primitive parathyroid Ca. "
    [Show abstract] [Hide abstract] ABSTRACT: A subset of over-expressed microRNAs (miRNAs) identified in parathyroid carcinomas (Ca) compared to normal glands belongs to C19MC, a cluster on chromosome 19q13.4 involved in stem cell biology and tumourigenesis. In this study, the expression of C19MC-MIR371-3 clusters and the molecular mechanisms presiding their modulation were investigated in a series of six normal parathyroids, 24 adenomas (Ad), 15 Ca and five matched metastases. The general expression levels of C19MC or MIR371-3 clusters in Ad lesions did not differ from normal glands, while they distinguished Ad from Ca at unsupervised hierarchical cluster analysis (P=0.0008). MIR517C showed the most significant difference in expression between Ca and Ad (P=0.0003) and it positively correlated with serum calcium, parathormone and tumour weight. In regard to the molecular mechanism determining C19MC cluster activation, we could detect C19MC copy number (CN) gain in ten Ca (67%) extending distal to the MIR371-3 cluster in almost all samples. Conversely, only four Ad (16%) showed C19MC amplification, with one case presenting distal genomic aberration to MIR371-3. Globally, CN variations of 19q13.4 loci were significantly associated with MIR517C up-regulation (P=0.006). Opposite to normal glands where C19MC promoter was methylated, hypomethylation occurred in 15 out of 30 analysed tumours. Though the epigenetic status did not correlate with C19MC miRNA expression levels, loss of C19MC promoter methylation was significantly associated with Ca and metastatic disease (P=0.01). In conclusion, C19MC cluster aberrations are a characteristic of Ca with respect to Ad. Altogether, these evidences point towards a role for 19q13.4 miRNA clusters as oncogenes in parathyroid tumourigenesis.
    Full-text · Article · Jul 2012
    • "Fluid accumulation and cyst formation then develop in the resulting areas of atrophy and degeneration (3,24). More recently, a few reports of cytogenetic analysis and flow cytometry studies of mesenchymal hamartomas have demonstrated balanced translocations at 19q13.4 and aneuploidy, findings that suggest that the lesion may in fact represent a true neoplasm (3,26,31,33,34). Although mesenchymal hamartoma is generally regarded as a benign lesion with no malignant potential, whereas undifferentiated (embryonal) sarcoma (UES) is an aggressive malignant tumor, there are several common histopathologic, immunohistochemical , and cytogenetic features of mes-enchymal hamartoma and UES that suggest a relationship between the two (1,3). "
    [Show abstract] [Hide abstract] ABSTRACT: Benign hepatic tumors in children include lesions that are unique to the pediatric age group and others that are more common in adults. Infantile hemangioendothelioma, or infantile hepatic hemangioma, is a benign vascular tumor that may cause serious clinical complications. It is composed of vascular channels lined by endothelial cells. At imaging, large feeding arteries and draining veins and early, intense, peripheral nodular enhancement with centripetal filling on delayed images are characteristic features. Mesenchymal hamartoma of the liver occurs in young children and is characterized pathologically by mesenchymal proliferation with fluid-containing cysts of varying size and number. The mesenchymal component or cystic component may predominate; this predominance determines the imaging appearance of the tumor. Benign epithelial tumors that are common in adults may infrequently occur in childhood. These include focal nodular hyperplasia (FNH), hepatocellular adenoma, and nodular regenerative hyperplasia. All are composed of hyperplastic hepatocytes similar to surrounding liver parenchyma and may be difficult to discern at imaging. Preferential hepatic arterial phase enhancement helps distinguish FNH and hepatic adenoma from uninvolved liver. Hepatic adenoma often has intracellular fat and a propensity for intratumoral hemorrhage, neither of which are seen in FNH. Unlike adenoma, FNH often contains enough Kupffer cells to show uptake at sulfur colloid scintigraphy. Nodular regenerative hyperplasia is often associated with portal hypertension, which may be evident at imaging. Knowledge of how the pathologic features of these tumors affect their imaging appearances helps radiologists offer an appropriate differential diagnosis and management plan.
    Article · May 2010
    • "locus deregulates the expression of imprinted genes. Of particular interest is the presence of translocation involving chromosomal band 19q13.4 in mesenchymal hamartomas of the liver [33, 34], since it is known that these lesions are commonly associated with PMD[16,35363738 . Unfortunately, among the published PMD cases, cytogenetic studies have not searched for a mutation in the 19q13.4 "
    [Show abstract] [Hide abstract] ABSTRACT: P57 protein is implicated in some human imprinting disorders such as hydatiform mole and Beckwith-Wiedemann syndrome (BWS), both characterized by mesenchymal and vascular placental abnormalities. We investigated p57 immunohistochemical expression in placental vascular proliferative disorders of preterm and term placentas, including chorangiosis (n = 5), chorangiomatosis (n = 2), chorangiomas (n = 7), umbilical cord angioma (n = 1), and placental mesenchymal dysplasia (PMD) (n = 7). P57 was expressed in decidua, cytotrophoblast, intermediate trophoblast and stromal cells of normal terminal, intermediate and stem villi, umbilical cord, chorangiosis, chorangiomatosis, and chorangiomas. In contrast, there was a loss of p57 expression in stromal cells of dysplastic stem villi in all cases of PMD regardless of whether associated with BWS or not. P57 seems to be involved in the pathogenesis of a subset of placental vascular proliferative disorders in preterm and term placentas, such as PMD. The loss of p57 expression in PMD could be of diagnostic value in helping to distinguish this rare placental lesion from its mimickers.
    Full-text · Article · Feb 2009
Show more