Cytogenetic study of neuroendocrine carcinoma of Merkel cells

Vázquez-Mazariego, Y; Vallcorba, Isabel; Ferrò, Maria Teresa; López-Yarto, A; García-Sagredo, José Miguel; Cabello, Pablo; Resino, M.; Muñóz, Roberto; Mayayo, M.; Román, Carlos

doi:10.1016/0165-4608(94)00189-8

Cited by 10 publications

(4 citation statements)

References 6 publications

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“…2,4,5,13,27 These observations may lead to speculation that overexpression of PAX-5 in neuroendocrine neoplasms may be related to transforming events that lead to disruption of the PAX-5 locus or dysregulation the of PAX-5 gene. However, overt structural abnormalities involving the PAX-5 locus or even chromosome 9 have never been demonstrated as a frequent finding in the extensive molecular and cytogenetic studies of Merkel cell 16,17,31,[34][35][36] and small cell carcinomas. 15,19,21,38 Furthermore, some studies on forced expression of PAX-5 by retroviral transduction and transgenic studies 26 have failed to demonstrate any transforming activity in developing mouse brain using both in vitro and in vivo approaches.…”

Section: Discussionmentioning

confidence: 99%

B-Cell Specific Activation Protein Encoded by the PAX-5 Gene Is Commonly Expressed in Merkel Cell Carcinoma and Small Cell Carcinomas

Dong¹,

Liu²,

Cohen³

et al. 2005

American Journal of Surgical Pathology

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PAX-5 is a B cell specific transcription factor crucial for B cell ontogeny and has been detected in most of human B-cell lymphomas. In mouse, PAX-5 is also highly expressed in the central nervous system under tight temporal and spatial controls during embryogenesis. In humans, however, detection of PAX-5 in cells other than B lymphocytes has rarely been reported. We have encountered cases of Merkel cell carcinoma expressing PAX-5 during our routine evaluation of lymphoma. Because Merkel cell carcinoma is a small blue round cell tumor constantly in the differential diagnosis of lymphoma, we expanded our study in an effort to determine if PAX-5 is significantly expressed in neuroendocrine tumors. Based on our immunohistochemistry results using a monoclonal anti-PAX5 antibody with paraffin-embedded tissue sections, we report herein that PAX-5 was detected in 29 of 31 (93.5%) of Merkel cell carcinoma and 22 of 30 (73.3%) of small cell carcinoma, but in none of 17 cases of carcinoid tumor. Furthermore, the staining intensity of PAX-5 in Merkel cell carcinoma was frequently comparable with that in most B-cell lymphomas. We conclude that expression of PAX-5 is not confined to the B cell lineage and is frequently associated with neuroendocrine carcinomas.

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Section: Discussionmentioning

confidence: 99%

B-Cell Specific Activation Protein Encoded by the PAX-5 Gene Is Commonly Expressed in Merkel Cell Carcinoma and Small Cell Carcinomas

Dong¹,

Liu²,

Cohen³

et al. 2005

American Journal of Surgical Pathology

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“…Up till now, 67 MCC cases have been reported in OTR (Table 3). 11–33 The Israel Penn International Transplant Tumor Registry (1968–2000) contains epidemiological data on 48 MCC that developed in 45 OTR; 12,21 in this registry, MCC accounted for 0.9% of all skin tumors developing in OTR 21 . In the series of 2340 OTR followed in our department, we have diagnosed over 1000 NMSC for just two MCC.…”

Section: Discussionmentioning

confidence: 99%

“…Although the cause of MCC is not precisely known, immunosuppression seems to be a predisposing factor, since several cases have been observed in the setting of immunosuppression, including HIV infection, 5–7 leukemias, 8–10 and organ transplantation. Up to date, 67 MCC cases have been reported, mostly briefly, in OTR 11–33 . The percentage of patients with MCC with organ transplants is unexpectedly large (7–8%), so that the incidence of MCC in OTR seems increased as compared with the general population 12,21 .…”

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Merkel cell carcinoma in organ‐transplant recipients: report of two cases with unusual histological features and literature review

et al. 2006

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“…Up to now, cytogenetic analysis of 27 tumors and 4 MCC cell lines have been reported 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20. Recurrent reciprocal translocations leading to fusion genes or activation of dominantly acting oncogenes have thus far not been identified in this tumor.…”

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confidence: 88%

Combined karyotyping, CGH and M‐FISH analysis allows detailed characterization of unidentified chromosomal rearrangements in Merkel cell carcinoma

Gele

Leonard

Roy

et al. 2002

Intl Journal of Cancer

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Merkel cell carcinoma (MCC) is a rare aggressive neuroendocrine tumor of the skin. Cytogenetic studies have indicated that deletions and unbalanced translocations involving chromosome 1 short arm material occur in 40% of the investigated cases. Recurrent chromosomal imbalances detected by comparative genomic hybridization (CGH) analysis were loss of 3p, 10q, 13q and 17p and gains of 1q, 3q, 5p and 8q. In order to study genomic aberrations occurring in MCC in further detail, we combined karyotyping, CGH and multiplex-fluorescence in situ hybridization (M-FISH), a strategy that proved to be successful in the analysis of other malignancies. Analysis of 6 MCC cell lines and 1 MCC tumor revealed mostly near-diploid karyotypes with an average of 5 chromosomal rearrangements. The observed karyotypic changes were heterogeneous, with 3-27 breakpoints per case, leading to imbalance of the involved chromosomal regions that was confirmed by CGH. Chromosomal rearrangements involving the short arm of chromosome 1, the long arm of chromosome 3 and gain of 5p material were the most frequently observed abnormalities in our study. In keeping with previous observations, this series of MCCs showed no evidence for high-level amplification. We provid a detailed description of chromosomal translocations occurring in MCC that could be useful to direct future intensive investigation of these chromosomal regions. © 2002 Wiley-Liss, Inc. Key words: M-FISH; Merkel cell carcinoma;1p rearrangements; 3q rearrangementsMerkel cell carcinoma (MCC) is a rare aggressive tumor that occurs mainly on sun-exposed areas of the skin in elderly people. The tumor is thought to originate from Merkel cells. These cells are located in the basal layers of the epidermis and are the mechanoreceptors of the skin. 1 Up to now, cytogenetic analysis of 27 tumors and 4 MCC cell lines have been reported. [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20] Recurrent reciprocal translocations leading to fusion genes or activation of dominantly acting oncogenes have thus far not been identified in this tumor. Structural abnormalities involving the short arm of chromosome 1 were observed in 40% of the cases studied, often leading to loss of distal 1p material, which suggests the involvement of 1 or more tumor suppressor genes located in this region. Detailed molecular cytogenetic analysis of 2 chromosomal 1p rearrangements revealed that at least 2 distinct critical regions within 1p36 were involved in MCC. 20 Loss of heterozygosity (LOH) studies for 1p markers confirmed the high incidence of allelic imbalance for the 1p region and showed complex patterns of losses for the distal part of chromosome 1. 21-23 A high incidence of 1p losses has also been described in many other tumors including colon and breast carcinomas. Several candidate tumor suppressor genes have been mapped to the various shortest regions of overlap on 1p, but none of them seem to be directly involved in tumors with 1p loss. 24 Comparative genomic hybridization (CGH) on 26 MCC tumors an...

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Cytogenetic study of neuroendocrine carcinoma of Merkel cells

Cited by 10 publications

References 6 publications

B-Cell Specific Activation Protein Encoded by the PAX-5 Gene Is Commonly Expressed in Merkel Cell Carcinoma and Small Cell Carcinomas

B-Cell Specific Activation Protein Encoded by the PAX-5 Gene Is Commonly Expressed in Merkel Cell Carcinoma and Small Cell Carcinomas

Merkel cell carcinoma in organ‐transplant recipients: report of two cases with unusual histological features and literature review

Combined karyotyping, CGH and M‐FISH analysis allows detailed characterization of unidentified chromosomal rearrangements in Merkel cell carcinoma

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