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Utility of molecular tests in cytopathology.

Somoza AD, Aly FZ - Cytojournal (2014)

Bottom Line: The UroVysion ™ test kit can increase the sensitivity of detection of UC especially in cases of residual/recurrent carcinoma after therapy.Subsets of lung adenocarcinomas are now commonly targeted by therapies based on molecular mutation results of epidermal growth factor receptor, KRAS or echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase re-arrangements.The profession is at an exciting point of implementing novel molecular markers to refine diagnostic criteria and create clinically relevant classification systems.

View Article: PubMed Central - HTML - PubMed

Affiliation: Address: Department of Pathology, University of Arizona, Tucson, AZ85724, USA.

ABSTRACT
With the popularity of interventional radiology, diagnostic material obtained can be limited requiring critical decisions on making the best use of it. Molecular testing using nanogram amounts of tissue can add useful diagnostic information by improving sensitivity and/or specificity of the diagnosis. This review examines the use of molecular tests in cervical cytology, "indeterminate" thyroid cytology specimens, pancreatic cyst fluid, urinary tract and pulmonary adenocarcinoma cytologic material. Molecular human papillomavirus (HPV) testing combined with cervical cytology increases sensitivity of detection of high grade lesions. In cytologically negative cases, the HPV negative predictive value endorses longer screening intervals. With the high prevalence of benign thyroid nodules, cytology plays a vital role in screening. However, 10-40% of the specimens obtained are cytologically indeterminate. Molecular analysis of these specimens can predict the malignant risk in these cases. Increased detection of pancreatic cysts has necessitated accurate pre-operative diagnosis delineating non-mucinous from mucinous cysts, which have a potential for progression to adenocarcinoma. Multimodal diagnosis of pancreatic cysts and molecular analysis help to clarify neoplastic risk; and in cases of limited fluid, may be the only available diagnostic information. Urothelial carcinoma (UC) of the bladder, a common cancer with frequent recurrences, requires lifelong surveillance. The UroVysion ™ test kit can increase the sensitivity of detection of UC especially in cases of residual/recurrent carcinoma after therapy. Subsets of lung adenocarcinomas are now commonly targeted by therapies based on molecular mutation results of epidermal growth factor receptor, KRAS or echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase re-arrangements. The move toward standardization of reporting of cytology specimens commencing with cervical smears and more recently, thyroid cytology specimens is also changing the practice of cytopathology. Combining the stringent cytology criteria with ancillary molecular testing is expected to yield more discrete and diagnostic categories for research and reporting. The profession is at an exciting point of implementing novel molecular markers to refine diagnostic criteria and create clinically relevant classification systems.

No MeSH data available.


Related in: MedlinePlus

Algorithmic approach to testing of cytology specimens in non-small cell lung cancer
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Figure 1: Algorithmic approach to testing of cytology specimens in non-small cell lung cancer

Mentions: The incidence of smoking is declining in the USA and parallels the drop of cases of squamous cell carcinoma. Proportionally, there is an increase in cases of adenocarcinoma against which therapeutic targets are available, mainly anaplastic lymphoma kinase (ALK) and epidermal growth factor receptor (EGFR) inhibitors. The molecular tests that are presently available test for echinoderm microtubule-associated protein-like 4-ALK re-arrangement, EGFR and KRAS mutations, which are commonly mutually exclusive. The clinical and pathological characteristics associated with these changes are illustrated in Table 6. In cases whereby there is an EGFR mutation, the presence of KRAS mutation needs to be evaluated since its presence will negate the effect of EGFR inhibitors downstream and render the treatment ineffective. The algorithmic approach to testing of cytology specimens is illustrated in Figure 1.[23]


Utility of molecular tests in cytopathology.

Somoza AD, Aly FZ - Cytojournal (2014)

Algorithmic approach to testing of cytology specimens in non-small cell lung cancer
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4007392&req=5

Figure 1: Algorithmic approach to testing of cytology specimens in non-small cell lung cancer
Mentions: The incidence of smoking is declining in the USA and parallels the drop of cases of squamous cell carcinoma. Proportionally, there is an increase in cases of adenocarcinoma against which therapeutic targets are available, mainly anaplastic lymphoma kinase (ALK) and epidermal growth factor receptor (EGFR) inhibitors. The molecular tests that are presently available test for echinoderm microtubule-associated protein-like 4-ALK re-arrangement, EGFR and KRAS mutations, which are commonly mutually exclusive. The clinical and pathological characteristics associated with these changes are illustrated in Table 6. In cases whereby there is an EGFR mutation, the presence of KRAS mutation needs to be evaluated since its presence will negate the effect of EGFR inhibitors downstream and render the treatment ineffective. The algorithmic approach to testing of cytology specimens is illustrated in Figure 1.[23]

Bottom Line: The UroVysion ™ test kit can increase the sensitivity of detection of UC especially in cases of residual/recurrent carcinoma after therapy.Subsets of lung adenocarcinomas are now commonly targeted by therapies based on molecular mutation results of epidermal growth factor receptor, KRAS or echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase re-arrangements.The profession is at an exciting point of implementing novel molecular markers to refine diagnostic criteria and create clinically relevant classification systems.

View Article: PubMed Central - HTML - PubMed

Affiliation: Address: Department of Pathology, University of Arizona, Tucson, AZ85724, USA.

ABSTRACT
With the popularity of interventional radiology, diagnostic material obtained can be limited requiring critical decisions on making the best use of it. Molecular testing using nanogram amounts of tissue can add useful diagnostic information by improving sensitivity and/or specificity of the diagnosis. This review examines the use of molecular tests in cervical cytology, "indeterminate" thyroid cytology specimens, pancreatic cyst fluid, urinary tract and pulmonary adenocarcinoma cytologic material. Molecular human papillomavirus (HPV) testing combined with cervical cytology increases sensitivity of detection of high grade lesions. In cytologically negative cases, the HPV negative predictive value endorses longer screening intervals. With the high prevalence of benign thyroid nodules, cytology plays a vital role in screening. However, 10-40% of the specimens obtained are cytologically indeterminate. Molecular analysis of these specimens can predict the malignant risk in these cases. Increased detection of pancreatic cysts has necessitated accurate pre-operative diagnosis delineating non-mucinous from mucinous cysts, which have a potential for progression to adenocarcinoma. Multimodal diagnosis of pancreatic cysts and molecular analysis help to clarify neoplastic risk; and in cases of limited fluid, may be the only available diagnostic information. Urothelial carcinoma (UC) of the bladder, a common cancer with frequent recurrences, requires lifelong surveillance. The UroVysion ™ test kit can increase the sensitivity of detection of UC especially in cases of residual/recurrent carcinoma after therapy. Subsets of lung adenocarcinomas are now commonly targeted by therapies based on molecular mutation results of epidermal growth factor receptor, KRAS or echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase re-arrangements. The move toward standardization of reporting of cytology specimens commencing with cervical smears and more recently, thyroid cytology specimens is also changing the practice of cytopathology. Combining the stringent cytology criteria with ancillary molecular testing is expected to yield more discrete and diagnostic categories for research and reporting. The profession is at an exciting point of implementing novel molecular markers to refine diagnostic criteria and create clinically relevant classification systems.

No MeSH data available.


Related in: MedlinePlus