Sorted By Test Name - Mayo Medical Laboratories

FGFR1
61096
FGAMS
60721
Reference Values:
< or =0.75 mL of fetal RBCs in normal adults
Clinical References: 1. Iyer R, Mcelhinney B, Heasley N, et al: False positive Kleihauer tests and
unnecessary administration of anti-D immunoglobulin. Clin Lab Haematol 2003;25:405-408 2. Roback J,
Combs MR, Grossman B, Hillyer C: Technical Manual, 16th edition. American Association of Blood
Banks, 2008, pp 625-637
FGFR1, 8p11.2 Rearrangement, FISH
Clinical Information: The gene for fibroblast growth factor receptor 1 (FGFR1) is located at 8p11.2
and rearrangements of FGFR1 are found in stem cell myeloproliferative disorders involving both
lymphoid and myeloid lineages. The stem cell myeloproliferative disorders with FGFR1 rearrangements
are also called 8p11 (eight p11) myeloproliferative syndromes (EMS) and have variable presentations.
EMS often transform rapidly into myelomonocytic leukemia and generally have a poor outcome due to
resistance to current chemotherapies, including imatinib; median survival is about 12 months. All
translocations affecting FGFR1 have a similar structure with a 5' gene partner translocating to the 3'
FGFR1 at exon 9. The fusion transcripts encode large proteins containing the N-terminus of the
translocation partner, and the tyrosine kinase domain of FGFR1 in the C-terminus. Leukemogenesis is
caused by inappropriate activation of FGFR1.
Useful For: Aids in identifying patients with myeloproliferative syndromes and the t(8;var)(p11.2;var)
translocation who therefore are likely resistant to current chemotherapies
Interpretation: A neoplastic clone is detected when the percent of cells with an abnormality exceeds
the normal cutoff for any given probe. The presence of a positive clone supports a diagnosis of
malignancy. The absence of an abnormal clone does not rule out the presence of neoplastic disorder.
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Huret JL: FGFR1 (fibroblast growth factor receptor 1). Atlas Genet
Cytogenet Oncol Haematol December 2008, Available from URL:
http://AtlasGeneticsOncology.org/Genes/FGFR1113.html Accessed 4/6/2011 2. Patnaik MM, Gangat N,
Knudson RA, et al: Chromosome 8p11.2 translocations: prevalence, FISH analysis for FGFR1 and
MYST3, and clinicopathologic correlates in a consecutive cohort of 13 cases from a single institution. Am
J Hematol 2010;85:238-242 3. WHO Classification of Tumours of Hematopoietic and Lymphoid Tissues.
Edited by SH Swerdlow, E Campo, NL Harris, et al. Published by the International Agency for Research
on Cancer (IARC), 150 cours Albert Thomas, 69372 Lyon Cedex 08, France, 2008, pp 72-73
Fibrinogen Alpha-Chain (FGA) Gene, Full Gene Analysis
Clinical Information: The systemic amyloidoses are a number of disorders of varying etiology
characterized by extracellular protein deposition. The most common form is an acquired amyloidosis
secondary to multiple myeloma or monoclonal gammopathy of unknown significance (MGUS) in which
the amyloid is composed of immunoglobulin light chains. In addition to light chain amyloidosis, there are
a number of acquired amyloidoses caused by the misfolding and precipitation of a wide variety of
proteins. There are also hereditary forms of amyloidosis. The hereditary amyloidoses comprise a group of
autosomal dominant, late-onset diseases that show variable penetrance. A number of genes have been
associated with hereditary forms of amyloidosis including those that encode transthyretin, apolipoprotein
AI, apolipoprotein AII, gelsolin, cystatin C, lysozyme and fibrinogen alpha chain (FGA). Apolipoprotein
AI, apolipoprotein AII, lysozyme, and fibrinogen amyloidosis present as non-neuropathic systemic
amyloidosis, with renal dysfunction being the most prevalent manifestation. FGA-related familial visceral
amyloidosis commonly presents with renal failure, which can often be fulminant, and is characterized by
hypertension, proteinuria, and azotemia. Liver and spleen involvement may be seen in advanced cases.
Neuropathy is not a feature of FGA-related familial visceral amyloidosis Due to the clinical overlap
between the acquired and hereditary forms, it is imperative to determine the specific type of amyloidosis
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