Hepatic mesenchymal hamartoma (HMH) is a rare benign liver tumor generally occurring in young children. Abnormalities of chromosome 19q13.4 and chromosomal aneuploidy detected by flow cytometry have been reported in HMH. We recently analyzed a HMH in a 14-month-old girl and identified additional novel chromosome abnormalities, including hypodiploidy with deletions of several chromosomes, without rearrangement of 19q13.4 on both routine chromosome analysis and fluorescent in-situ hybridization analysis using subtelomere probes for chromosome 19q. This case underscores the need for chromosome analysis of all HMH and the need to report these changes to better understand the pathophysiology and the entire spectrum of cytogenetics of this uncommon tumor.
StringerMDAlizaiNK. Mesenchymal hamartoma of the liver: a systematic review. J Pediatr Surg2005;108:1681–1690.
2.
von SchweinitzDDammeierGomez BGlüerS. Mesenchymal hamartoma of the liver: new insight into histogenesis. J Pediatr Surg1999;34:1269–1271.
3.
SpelemanFDe TelderVDe PotterKR. Cytogenetic analysis of a mesenchymal hamartoma of the liver. Cancer Genet Cytogenet1989;40:29–32.
4.
MascarelloJTKrousHF. Second report of a translocation involving 19q13.4 in a mesenchymal hamartoma of the liver. Cancer Genet Cytogenet1992;58:141–142.
5.
BoveKEBloughRISoukupS. Third report of t(19q)(13.4) in mesenchymal hamartoma of the liver with comments on link to embryonal sarcoma. Pediatr Dev Pathol1998;1:438–442.
6.
RakhejaDMargrafLRTomlinsonGESchneiderNR. Hepatic mesenchymal hamartoma with translocation involving chromosome 19q13.4; a recurrent abnormality. Cancer Genet Cytogenet2004;153:60–63.
7.
SharifKRamaniPLochbühlerHGrundyRde Ville de GoyetJ. Recurrent mesenchymal hamartoma associated with 19q translocation: a call for more radical surgical resection. Eur J Pediatr Surg2006;16:64–67.
8.
O'SullivanMJSwansonPEKnollJTaboadaEMDehnerLP. Undifferentiated embryonal sarcoma with unusual features arising within mesenchymal hamartoma of the liver: report and review of the literature. Pediatr Dev Pathol2001;4:482–489.
9.
MurthiGVSPatersonLAzmyA. Chromosomal translocation in mesenchymal hamartoma of liver: what is its significance?J Pediatr Surg2003;38:1543–1545.
10.
TalmonGACohenSM. Mesenchymal hamartoma of the liver with an interstitial deletion involving chromosome band 19q13.4. Arch Pathol Lab Med2006;130:1216–1218.
11.
OtalTMHendricksJBPharisPDonnellyWH. Mesenchymal hamartoma of the liver: DNA flow cytometric analysis of eight cases. Cancer1994;74:1237–1242.
12.
AbdulkaderIFragaMPerez-BecerraE. Mesenchymal hamartoma of the liver: clinicopathological, immunohistochemical and flow cytometric study of two cases. Hepatol Res2004;28:216–219.
13.
JustraboEMartinLYazijiN. L'hamartome mésenchymateux du foie de l'enfant: etude immunohistochimique, ultrastructurale et en cytometry en flux d'un cas. Gastroenterol Clin Biol1998;22:964–968.
14.
Wang-WuuSSoukupSBallardETGotwalsBLampkinB. Chromosomal analysis of sixteen human rhabdomyosarcomas. Cancer Res1988;48:983–997.
15.
Wang-WuuSSoukupSBoveKEGotwalsBLampkinB. Chromosomal analysis of thirty-one Wilms' tumors. Cancer Res1990;50:2786–2793.
16.
LauwersGYGrantLDDonnellyWH. Hepatic undifferentiated (embryonal) sarcoma arising in a mesenchymal hamartoma. Am J Surg Pathol1997;21:1248–1254.
17.
LeeJYParkYNUhmKOParkSYParkSH. Genetic alterations in intrahepatic cholangiocarcinoma as revealed by degenerate oligonucleotide primed PCR-comparative genomic hybridization. J Korean Med Sci2004;19:682–687.
18.
ReynoldsABJenkindNAGilbertDJ. The gene encoding p120cas, a novel catenin, localize on human chromosome 11q11 (CTNND) and mouse chromosome 2 (Catns). Genomics1996;31:127–129.
19.
AnastasiadesPZReynoldsAB. The p120 catenin family: complex roles in adhesions, signaling and cancer. J Cell Sci2000;113:1319–1334.
20.
PaulsonAFFangXJiHReynoldsABMcCreaPD. Misexpression of the catenin p120ctn1A perturbs Xenopus gastrulation but does illicit Wnt-directed axis specification. Dev Biol1999;207:350–363.
21.
The European Consortium on MEN1: identification of the multiple neoplasia type 1 (MEN1) gene. Hum Mol Genet1997;6:1177–1183.
22.
HalamaNGrauling-HalamaSAJägerD. Identification and characterization of the human StARD9 gene in the LGMD2A-region on chromosome 15q15 by silico methods. Int J Mol Med2006;18:653–656.
23.
TomlinsonIRahmanNFraylingI. Inherited susceptibility to colorectal adenomas and carcinomas: evidence for a new predisposition gene on 15q14-q22. Gastroenterology1999;116:789–795.
24.
NatrajanRLouhelainenJWillliamsSLayeJKnowlesMA. High-resolution deletion mapping of 15q13.2-q21.1 in transitional cell carcinoma of the bladder. Cancer Res2003;63:7657–7662.
25.
MehenniHBlouinJLRadhakrishnaU. Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4. Am J Hum Genet1997;67:1327–1334.
26.
HearleNLucassenAWangR. Mapping of a translocation breakpoint in a Peutz-Jeghers hamartoma to the putative PJS locus at 19q13.4 and mutation analysis of candidate genes in polyp and STK11-negative PJS cases. Genes Chromosomes Cancer2004;41:163–169.
27.
BelgeGRippeVDrieschnerNGarciaNBullerdiekJ. Deliniation of a 150-kb breakpoint cluster in benign thyroid tumors with 19q13.4 aberrations. Cytogenet Cell Genet2001;93:48–51.
28.
SoweryRDJensenCMorrisonKBHorsmanDESorensenPHWeberEM. Comparative genomic hybridization detects multiple chromosomal amplifications and deletions in undifferentiated embryonal sarcoma of the liver. Cancer Genet Cytogenet2001;126:128–133.
29.
ParadaLABardiGHallenM. Monosomy 22 in a case of biliary adenofibroma. Cancer Genet Cytogenet1997;93:183–184.
30.
MertensFMandahlNMitelmanFHeimS. Cytogenetic analysis in the examination of solid tumors in children. Pediatr Hematol Oncol1994;11:361–377.
