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Interpretive Handbook

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Test 61014:
Endometrial Stromal Tumors (EST), 7p15 (JAZF1) Rearrangement, FISH, Tissue

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Endometrial stromal tumors (EST) arise from the uterus and include the benign endometrial stromal nodule (ESN) and infiltrative endometrial stromal sarcoma (ESS). These tumors are characterized by a translocation that fuses JAZF1 at 7p15 to JJAZ1 (official symbol SUZ12) at 17q21 or a variant 6;7 translocation also involving JAZF1.(1) Published literature employing FISH and RT-PCR suggests rearrangement of JAZF1 occurs in approximately 76% of ESN and approximately 58% of ESS.(1-3) JAZF1 is not generally considered to be involved in the genetic mechanism of the high-grade undifferentiated endometrial sarcoma (UES), although rarely some cases of UES are positive for JAZF1, which may reflect the presence of an ESS component.(4) The clinical utility of identifying this rearrangement is mainly to address the differential diagnostic dilemma that occurs when ESS are present as metastatic lesions or exhibit variant morphology.

Useful For Suggests clinical disorders or settings where the test may be helpful

Aids in the diagnosis of endometrial stromal tumors when used in conjunction with an anatomic pathology consultation

Interpretation Provides information to assist in interpretation of the test results

A neoplastic clone is detected when the percent of nuclei with an abnormality exceeds the established normal cutoff for the JAZF1 probe set. A positive result of JAZF1 rearrangement is consistent with a diagnosis of endometrial stromal tumors (EST). A negative result suggests that JAZF1 is not rearranged, but does not exclude the diagnosis of EST.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

This test is not approved by the FDA and it is best used as an adjunct to existing clinical and pathologic information.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Clinical References Provides recommendations for further in-depth reading of a clinical nature

1. Koontz J, Soreng AL, Nucci M, et al: Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors. Proc Natl Acad Sci USA 2001;98(11):6348-6353

2. Oliva E, de Leval L, Soslow RA, et al: High Frequency of JAZF1-JJAZ1 gene fusion in endometrial stromal tumors with smooth muscle differentiation by interphase FISH detection. Am J Surg Pathol 2007;31(8):1277-1284

3. Nucci R, Harburger D, Koontz J, et al: Molecular analysis of the JAZF1-JJAZ1 gene fusion by RT-PCR and fluorescence in situ hybridization in endometrial stromal neoplasms. Am J Surg Pathol 2007;31(1):65-70

4. Huang H-Y, Ladanyi M, Soslow RA: Molecular detection of JAZF1-JJAZ1 gene fusion in endometrial stromal neoplasms with classic and variant histology-evidence for genetic heterogeneity. Am J Surg Pathol 2004;28(2):224-232