Methods and probe combinations for detecting melanoma

Abstract

The present invention is based on the discovery of methods and combinations of probes to chromosomal regions that are gained or lost or imbalanced in melanoma that provide highly specific and sensitive assays for the detection of melanoma cells.

Description

CROSS-REFERENCE TO RELATED APPLICATIONS [0001] This applications claims benefit of U.S. provisional application No. 60 / 713,799, filed Sep. 2, 2005, which is herein incorporated by reference.BACKGROUND OF THE INVENTION [0002] Melanoma is an important clinical problem. The incidence and mortality of melanoma has been increasing more rapidly than any other malignancy except lung cancer in women. Pathology is the gold standard for establishing the diagnosis of melanoma. Although many cases can be classified reliably with current pathological criteria, there is a significant subset of cases in which no consensus can be reached even among expert pathologists. The effect of the ambiguity on standard clinical practice is illustrated in a recent study from The Netherlands. An expert panel reviewed 1069 consecutive melanocytic lesions that had been submitted for review by clinical pathologists in order to identify the most common diagnostic problems. In 14% (22 / 158) of the cases that had been...

AI Technical Summary

Benefits of technology

[0008] b) incubating each probe of the set with the sample under conditions in which each probe binds selectively with a polynucleotide sequence on its target chromosome or chromosomal region to form a stable hybridization complex;

Problems solved by technology

Melanoma is an important clinical problem.

Although many cases can be classified reliably with current pathological criteria, there is a significant subset of cases in which no consensus can be reached even among expert pathologists.

Diagnostic ambiguity has significant adverse consequences for patients.

Misclassifying a melanoma as benign may be fatal, and diagnosing a benign lesion as malignant may result in significant morbidity.

However, the morbidity of the therapeutic options—wide re-excision, sentinel lymph node biopsy, and adjuvant alpha-interferon—coupled with the diagnostic uncertainty frequently leads to pursuing a less aggressive treatment regimen.

Thus patients with benign lesions suffer the side effects of a still significant surgery and the emotional strain of the diagnosis, while those patients that in fact have a melanoma may not receive the optimal treatment.

Currently there is no method to definitively resolve these ambiguities.

However, such studies do not provide insight as to a combination of probes that will have a high level of sensitivity and specificity to selectively detect melanoma.

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