Trisomy 6 in Merkel cell carcinoma: a recurrent chromosomal aberration

Gancberg, David; Feoli, Francesco; Hamels, J.; Saint-Aubain, Nicolas de; André, Josette; Rouas, G.; Verhest, Alain; Larsimont, Denis

doi:10.1046/j.1365-2559.2000.01011.x

Cited by 35 publications

(23 citation statements)

References 35 publications

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“…Trisomy of chromosome 6 is widely considered as recurrent chromosomal aberration in MCC, [26][27][28] which was the case also in our study. In 42% of the primary MCC samples analyzed by CGH, overrepresentation of all genomic material of chromosome 6 was observed.…”

Section: Discussionsupporting

confidence: 76%

Recurrent DNA copy number changes revealed by comparative genomic hybridization in primary Merkel cell carcinomas

et al. 2004

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Comparative genomic hybridization (CGH) was used to search for gains, high-level amplifications and losses of DNA sequences along all chromosome arms in 19 primary Merkel cell carcinomas (MCC). Extensive genetic aberrations, with a mean value of 5.571.1 changes per tumor were detected in 13 out of the 19 samples analyzed. Our CGH results reveal several new and other previously known chromosomal regions that are involved in the pathogenesis of MCC. The majority of the alterations were gains of whole chromosomes or whole chromosome arms. Compared to losses, the frequency of DNA copy number gains was two-fold. DNA sequence copy number gains were most common in chromosomes 6 (42%), 1 (37%), and 5 (32%). The most frequent minimal common regions of gains were 6pterqter (42%), 1q11q31 (32%), and 5p (32%). No recurrent high-level amplifications were observed. High-level amplifications of small chromosomal regions were found in four samples out of the 19 tumors analyzed (21%). Amplifications affected 1q22q24 (5%), 4p (5%), and 5p (5%). Losses most frequently affected chromosomes 13 (21%) and 4 (16%). Minimal common regions with the most frequent losses were 13q13q31 (21%), 4q (16%), and 16q (11%). No significant statistical correlation between genomic aberrations and clinicopathological factors was revealed, despite the fact that there was an obvious tendency towards it. Primary MCC expressing DNA alterations were predominantly distinguished in large tumors, and risk of metastatic dissemination was three-fold compared to tumors with no DNA alterations.

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Section: Discussionsupporting

confidence: 76%

Recurrent DNA copy number changes revealed by comparative genomic hybridization in primary Merkel cell carcinomas

et al. 2004

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“…28,29,[48][49][50][51] Flow cytometry is useful if there is a history of or suspicion of coexisting lymphoma, as illustrated in our Patient 5.…”

Section: Ancillary Studies: Immunohistochemistrymentioning

confidence: 99%

“…11 In 1 study, trisomy 6 was observed in 47% of patients. 29 In another study, positive tyrosine-protein kinase Kit (c-Kit) status was reported in 95% of MCC tumors, 30 generating interest in the tyrosine kinase inhibitor imatinib, which initially was designed to target the breakpoint cluster region/ v-abl Abelson murine leukemia viral oncogene homolog (Bcr-Abl) fusion. However, Swick et al 31 suggest that its effectiveness may be limited, because no c-Kit-activating mutations were observed in their series.…”

Section: Etiologymentioning

confidence: 99%

The Merkel cell carcinoma challenge

Bechert

Schnadig

Nawgiri

2012

Cancer Cytopathology

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Merkel cell carcinoma (MCC) is a highly aggressive neuroendocrine carcinoma of the skin that occurs primarily in elderly or immunocompromised patients. For this report, the authors reviewed the diagnostic challenges associated with MCC encountered on their fine-needle aspiration (FNA) service and also conducted an in-depth review of the literature on MCC. A computer search for patients who were diagnosed with MCC by FNA at the authors' institution from 2006 to 2010 was conducted, and 5 patients were selected for cytologic and immunochemical analyses based on their varied and diagnostically challenging clinical presentations. The 5 selected patients had clinical findings commonly associated with MCC, including advanced age (4 of the 5 patients were ages 75-85 years) and a history of previous malignancies (3 of the 5 patients had a history of previous malignancy), and 1 patient was diagnosed with a concomitant low-grade lymphoma.The patients and their disease illustrated the protean clinical presentation of MCC and the clinical and cytologic challenges associated with this neoplasm. The current findings indicate the need for cytopathologists to be aware of the deceptive presentation of this neoplasm and its cytologic and immunochemical features to correctly diagnose this insidious neoplasm.

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“…For the evaluation of positivity, we followed the same approach by Gancberg et al [10], who regarded as trisomic the cases with more than 15% of nuclei showing three spots and monosomic those showing loss of one chromosome (one spot only) in more than 40% of cells. Internal control consisted of the use of chromosome 17 probes.…”

Section: Evaluation Of Positivitymentioning

confidence: 99%

“…Several cytogenetic alterations have been described in these neoplasms, especially involving chromosomes 1, 11, and 13 as well as losses of 4p15-pter and gains of 8q21-q22 in common with squamous cell carcinoma of the skin [13][14][15]. Trisomy of chromosome 6 is the most frequent cytogenetic change having been seen in 47% of cases using in situ hybridization [10,12].…”

Section: Introductionmentioning

confidence: 99%

Trisomy of chromosome 6 in Merkel cell carcinoma within lymph nodes

et al. 2008

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Merkel cell carcinoma (MCC) of the skin is a neuroendocrine tumor with characteristic histological and immunohistochemical features. Among various cytogenetic changes, trisomy of chromosome 6 has been reported in 47% of cases using in situ hybridization. Primary tumors, morphologically and immunohistochemically identical to MCCs of the skin, have been described in other organs, including lymph nodes. Here, a cytogenetic study of four cases of MCC of lymph nodes is presented. Four cases of primary MCCs of lymph nodes and ten cases of cutaneous MCCs were studied for chromosome 6 using fluorescent in situ hybridization (FISH). All cases showed typical features of MCC both at hematoxylin and eosin (H&E) and immunohistochemistry. FISH showed trisomy 6 in two out of the four cases ofMCCs of lymph node as well as in 6 out 10 cases of MCCs of skin. Lymph nodal and cutaneous MCCs share same histological and immunohistochemical features, as well as same cytogenetic alteration for chromosome 6. It seems that there are more similarities than differences between cutaneous and lymph nodal MCCs. Whether lymph nodal MCCs are primary tumors or metastases from regressed skin lesions is still questionable, although several findings indicate a primary origin.

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Trisomy 6 in Merkel cell carcinoma: a recurrent chromosomal aberration

Cited by 35 publications

References 35 publications

Recurrent DNA copy number changes revealed by comparative genomic hybridization in primary Merkel cell carcinomas

Recurrent DNA copy number changes revealed by comparative genomic hybridization in primary Merkel cell carcinomas

The Merkel cell carcinoma challenge

Trisomy of chromosome 6 in Merkel cell carcinoma within lymph nodes

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