Mayo Test Catalog, (Sorted By Test Name) - Mayo Medical ...

FJAZ
61014
5362
FEMA
Endometrial Stromal Tumors (EST), 7p15 (JAZF1)
Rearrangement, FISH, Tissue
Clinical Information: 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: Aids in the diagnosis of endometrial stromal tumors when used in conjunction with an
anatomic pathology consultation
Interpretation: 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.
Reference Values:
An interpretive report will be provided.
Clinical References: 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
Endomyocardial Biopsy
Clinical Information: Endomyocardial biopsies may be indicated to evaluate a variety of cardiac
disorders. The procedure is performed using a device inserted through the jugular, subclavian, or femoral
vein.
Useful For: Evaluation of: -Cardiac allograft rejection -Cardiomyopathies -Myocarditis -Idiopathic
arrhythmias -Idiopathic chest pain -Anthracycline cardiotoxicity -Secondary heart disease (amyloidosis,
sarcoidosis, hemochromatosis, storage diseases, and neoplastic diseases)
Interpretation: This request will be processed as a consultation. Appropriate stain(s) will be
performed and a diagnostic interpretation provided.
Reference Values:
Abnormalities will be compared to reported reference values.
Clinical References: Edwards WD, Holmes DR Jr: Transvenous endomyocardial biopsy. In Mayo
Clinic Practice of Cardiology: Fundamentals and Practice. 3rd edition. Edited by ER Giuliani, BJ Gersh,
MD McGooh, et al. St. Louis, MO, Mosby-Yearbook, 1996, pp 672-688
Endomysial (EMA) Antibody (IgG) titer
91836
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