Genetic Changes Associated With Primary Merkel Cell Carcinoma

Vortmeyer, A. O.; Merino, María J.; Böni, R.; Liotta, Lance A.; Cavazzana, Andrea; Zhuang, Zhengping

doi:10.1093/ajcp/109.5.565

Cited by 49 publications

(29 citation statements)

References 15 publications

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“…For further genetic analysis, tumor cells were microdissected from tissue sections as described previously (Zhuang and Vortmeyer, 1998). After DNA extraction, PCR ampli®-cation of blood and microdissected tumor DNA was performed with highly polymorphic markers¯anking VHL; the ampli®cation products were separated on a 8% polyacrylamide sequencing gel.…”

Section: Methodsmentioning

confidence: 99%

Somatic point mutation of the wild-type allele detected in tumors of patients with VHL germline deletion

et al. 2002

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(VHL) disease are aected by a VHL germline mutation involving one copy of the VHL gene. Loss of heterozygosity of the second VHL allele can be consistently demonstrated in tumor tissue from these patients, suggesting that allelic deletion is a very early or even initiating event for tumorigenesis. Approximately 20% of VHL disease patients, however, exhibit germline deletion of one entire copy or at least a substantial part of the VHL gene. To investigate the nature of thè second genetic hit' in this patient population, we analysed two renal cell carcinomas and one CNS hemangioblastoma from three unrelated patients for genetic changes of the second copy of the VHL gene. All three tumors showed retention of one VHL allele by FISH. Single-strand conformation polymorphism and mutation analysis of microdissected tumor DNA revealed somatic point mutations of the wild-type VHL copies in each of the three tumors. The results indicate that thè two hit model' is equally applicable to patients with VHL germline mutation and VHL germline deletion. In contrast to tumors from patients with VHL germline mutation, however, point mutations of the wild-type allele can be detected in tumors from patients with VHL germline deletion.

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Section: Methodsmentioning

confidence: 99%

Somatic point mutation of the wild-type allele detected in tumors of patients with VHL germline deletion

et al. 2002

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“…14,20 Deletions involving 1p35-36 are similar to those described for malignant melanoma, pheochromocytoma, and neuroblastoma, tumors known to originate from neural crest cells. 26 Mutations in the tumor protein 73 (p73) gene (p53-like transcription factor) have been observed in MCCs. The p73 gene resides on 1p and has structural and functional homology similar to p53.…”

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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“…Gleichartige genetische Veränderungen wurden auch in anderen neuroendokrinen bzw. neuroektodermalen Tumoren wie Phäo-chromozytomen, Neuroblastomen und malignen Melanomen beschrieben [26]. Auch wurden in Merkel-Zell-Karzinomen mittels komparativer genomischer Hybridisierung (CGH) einige rekurrente chromosomale Zugewinne und Verluste nachgewiesen, die denen in kleinzelligen Bronchialkarzinomen stark äh-neln [23].…”

Section: Schlüsselwörterunclassified