Cytogenetic study of a Merkel cell carcinoma

Chromosome 6 trisomy as sole anomaly in a primary Merkel cell carcinoma

“…In MCC multiple chromosome abnormalities have been documented without any consistent aberrations, probably because the majority of the cytogenetic studies deal with metastatic lesions, long-term cultures or xenografted cell lines [5,11,27]. These studies have shown the high frequency of aberrations on both arms of chromosome 1 [5,14,17,18,27] in the same regions as described for other neural crest-derived tumours, such as melanoma [2] and neuroblastoma [4].…”

“…In his review of the literature [5], structural aberrations of the short as well as the long arms of chromosome 1 were found in 10 of 14 cases. In 5 of the 14 cases, including 1 primary cutaneous neuro-endocrine turnout [23], trisomy 6 was also determined [10,11,21,27].…”

Trisomy 6 in Merkel cell carcinoma: a recurrent chromosomal aberration

“…Chromosome analysis has proved to be useful in separating poorly differentiated small cell tumours, some of which are often hallmarked by simple but specific karyotypic abnormalities, such as Ewing's sarcoma, neuroblastoma, or embryonal rhabdomyosarcoma 33–36 . In MCC various chromosome abnormalities have been previously documented without any consistent patterns, probably because the majority of the cytogenetic studies deal with metastatic lesions, long‐term cultures, or xenografted cell lines 10–12 . These conditions may be associated with an increased number of irregular chromosomal aberrations.…”

Genetic Changes Associated With Primary Merkel Cell Carcinoma

“…[8][9][10][11][12][13] Cytogenetic analyses of 23 cases of MCCs have shown structural or numerical aberrations of virtually all chromosomes. [16][17][18][19][20][21][22][23][24][25][26] A high proportion (17 of 23) of these reported cases was characterized by deletions or gene rearrangements of chromosome l p . Many of these cytogenetic analyses, however, have been performed in cells derived from long-term cultures, xenografts, or metastases and, therefore, may have included epiphenomena associated with tumor cell selection or tumor progression.…”