Sorted By Test Name - Mayo Medical Laboratories

FMDS
84387
FMFC
60405
Test Performed by: Focus Diagnostics, Inc
5785 Corporate Avenue
Cypress, CA 90630-4750
Myelodysplastic Syndrome (MDS), FISH
Clinical Information: Myelodysplastic syndromes (MDS) primarily occur in the older adult
population and have a yearly incidence of 30 in 100,000 in persons greater than 70 years of age. These
disorders are typically associated with a hypercellular bone marrow and low peripheral blood counts, and
with significant morbidity and mortality. The eventual clinical outcome for patients with MDS relates to
either bone marrow failure or transformation to acute myeloid leukemia. MDS can be either primary (de
novo) or secondary (due to previous treatment with alkylating or etoposide chemotherapy, with or without
radiation). Cytogenetic studies can provide confirmatory evidence of clonality in MDS and can be used to
provide clinical prognostic or diagnostic information. Clonal cytogenetic abnormalities are more
frequently observed in cases of secondary MDS (80% of patients) than in primary MDS (40%-60% of
patients). The common chromosomal abnormalities associated with MDS include: inv(3), -5/5q-, -7/7q-,
+8, 13q-, and 20q-. These abnormalities can be observed singly or in concert. In addition, MLL
rearrangements, t(1;3) and t(3;21) are more frequently associated with secondary MDS. Conventional
chromosome analysis is the gold standard for identification of the common, recurrent chromosome
abnormalities in MDS. However, this analysis requires dividing cells, takes 5 to 7 days to process, and
some of the subtle rearrangements can be missed (eg, MLL abnormalities). Thus, we have validated a
combination of commercially available and Mayo Clinic in-house developed FISH probes to detect the
common chromosome abnormalities observed in MDS patients. These probes have diagnostic and
prognostic relevance. Our panel of multiple FISH probes can be utilized to study nonproliferating
(interphase) cells and can identify the common cytogenetic abnormalities associated with MDS.
Useful For: Detecting a neoplastic clone associated with the common chromosome anomalies seen in
patients with myelodysplastic syndromes or other myeloid malignancies Evaluating specimens in which
standard cytogenetic analysis is unsuccessful Identifying and tracking known chromosome anomalies in
patients with myeloid malignancies and tracking response to therapy
Interpretation: A neoplastic clone is detected when the percent of cells with an abnormality exceeds
the normal reference range for any given probe. The absence of an abnormal clone does not rule-out the
presence of a neoplastic disorder.
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Bernasconi P, Klersy C, Boni M, et al: World Health Organization
classification in combination with cytogenetic markers improves the prognostic stratification of patients
with de novo primary myelodysplastic syndromes. Br J Haematol 2007 May;137(3):193-205 2. Swerdlow
SH, Campo E, Harris NL, et al: WHO Classification of Tumours of Haematopoietic and Lymphoid
Tissues. Fourth edition. Lyon, France, IARC Press, 2008
Myeloma, FISH, Fixed Cells
Clinical Information: Multiple myeloma is a hematologic neoplasm that generally originates in the
bone marrow and develops from malignant plasma cells. There are 4 main categories of myeloma:
asymptomatic myeloma, smoldering myeloma, indolent myeloma, and multiple myeloma. Asymptomatic
myeloma patients have nonspecific symptoms that may be attributed to other diseases. Generalized bone
pain, anemia, numbness or limb weakness, symptoms of hypercalcemia, and recurrent infections are all
symptoms that may indicate myeloma. In smoldering myeloma there is a monoclonal protein spike, but it
is stable. Indolent myeloma is a slowly progressing myeloma. As myeloma progresses, the malignant
plasma cells interfere with normal blood product formation in the bone marrow resulting in anemia and
leukopenia. Myeloma also causes an overstimulation of osteoclasts, causing excessive breakdown of bone
tissue without the normal corresponding bone formation. These bone lesions are seen in approximately
66% of myeloma patients. In advanced disease, bone loss may reach a degree where the patient suffers
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