Primary cutaneous neuroendocrine tumors. Diagnostic use of cytogenetic and MIC2 analysis

Elizabeth J. Perlman, Jeanne A. Lumadue, Anita L. Hawkins, Kenneth Cohen, Paul Colombani, Constance A. Griffin

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


Merkel cell carcinoma (MCC) is a primary cutaneous neoplasm most commonly involving older adults. The cell of origin is thought to be the Merkel cell, a cutaneous neurosecretory cell. However, other neuroectodermal tumors may present in the skin and may be difficult to distinguish from MCC, including peripheral neuroectodermal tumors (PNET) and metastatic small cell carcinoma. We examined a primary cutaneous tumor of an 18-year-old which was strongly positive for cytokeratin (CK), neuron-specific enolase (NSE), and 12E7, an antibody to the protein determined by the MIC2 gene. Electron microscopy showed paranuclear aggregates of filaments and no cytoplasmic processes. These findings were considered to be consistent with MCC. Cytogenetic analysis demonstrated 46,XX,der(1)t(1;3;22)(lqter→pa34::3q28→q11::22q12→qter),der(3)t(1; 3) (pter→q11::1p35-pter),der(22)t(3; 22) (22pter→q11::?3q29→qter). This was confirmed by chromosome painting using probes for chromosomes 1, 3, and 22. Peripheral neuroectodermal tumors (PNETs) show a characteristic translocation involving the same breakpoint on chromosome 22 that was present in this tumor. PNETs can also be CK and NSE positive. The MIC2 gene codes for a surface glycoprotein that has been shown to be very strongly and reliably expressed in PNETs, but not in other small round blue cell tumors and not in small cell carcinoma of the lung. However, MIC2 expression has not been studied in MCC. We investigated the use of MIC2 analysis in the distinction of MCC from PNET. Five additional MCCs were stained with the monoclonal 12E7 antibody, ant one additional tumor showed the strong membranous positivity reported in PNETs. Our data suggest that MIC2 analysis may be useful in differentiating between MCC and PNET However, cases will remain for which the distinction is elusive and cytogenetic analysis may be helpful.

Original languageEnglish (US)
Pages (from-to)30-34
Number of pages5
JournalCancer Genetics and Cytogenetics
Issue number1
StatePublished - Jul 1 1995

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Cancer Research


Dive into the research topics of 'Primary cutaneous neuroendocrine tumors. Diagnostic use of cytogenetic and MIC2 analysis'. Together they form a unique fingerprint.

Cite this