Pathways Case Study: March 24

PW020915-Hartzheim-MastocytosisCompositeIHC1-2


A 35-year-old female presented with a month-long history of worsening symptoms: flushing, rash, joint/muscle pain, weakness, difficulty walking, and head tremors. She had high blood pressure and tachycardia. An extensive workup was performed, including consults with Cardiology, Neurology, and Rheumatology. No unifying explanation was found for the patient’s multitude of symptoms. CBC and peripheral blood smear were normal. Her doctor noted slightly elevated serum tryptase = 15 (normal <11.5) and requested an Allergy consult. Subsequently, a bone marrow biopsy was ordered (see photos above).

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hartzheim

Lisa Hartzheim, MT (ASCP)
Education Program Coordinator
Department of Laboratory Medicine and Pathology
Mayo Clinic
Instructor in Laboratory Medicine and Pathology,
Mayo Clinic College of Medicine

 

 

Mechelle Miller

Mechelle Miller, BS, MT, MLT (ASCP)
Technical Specialist
Department of Laboratory Medicine and Pathology
Mayo Clinic

apriljosselyn

April Josselyn

April Josselyn is a Marketing Associate at Mayo Medical Laboratories. She is the editor of Mayo Clinic PathWays and supports corporate communications strategies and internal communications. She has worked at Mayo Clinic since 2012. Outside of work, April enjoys the outdoors and being "hockey mom" for her two sports-crazed boys.

Responses

I love this new case-studies tool you’ve added to the Mayo Medical Laboratories website. Very informative–and fun!

And don’t forget that mast cell disease may come in many different forms, including those associated with core binding factor leukemias!

http://www.ncbi.nlm.nih.gov/pubmed/24045550

Am J Clin Pathol. 2013 Oct;140(4):525-35.
Hidden mastocytosis in acute myeloid leukemia with t(8;21)(q22;q22).
Johnson RC, Savage NM, Chiang T, Gotlib JR, Cherry AM, Arber DA, George TI.

OBJECTIVES:
To assess the frequency of systemic mastocytosis (SM) in a large series of acute myeloid leukemia (AML) with t(8;21)(q22;q22).
METHODS:
We retrospectively characterized 40 bone marrow aspirate smears and biopsy specimens from patients with AML with t(8;21) for the presence of SM. Cases were assessed for mast cell morphology and immunohistochemistry, as well as KIT exon 8 and 17 mutational assessment by reverse transcription polymerase chain reaction.
RESULTS:
Four patients met criteria for SM, 1 met criteria for myelomastocytic leukemia, and 8 demonstrated the benign finding of mast cell hyperplasia.
CONCLUSIONS:
We recommend examining all cases of AML with t(8;21) for the presence of SM via morphology, immunophenotyping, and KIT mutational analysis studies.

great case- studies, good tool to keep up.

very nice case >> thanks a lot

such case discussion is really informative, thanks….

Thank you

Thank you

Very useful!

great case study

Thanks for sharing the case and the diagnosis. Great learning opportunity.

I’m curious if ferritin-related tests could provide an additional clue to an underlying condition that is contributing to the systemic mastocytosis.

Were ferritin levels elevated? Ferritin inhibits tryptase, so would tryptase levels rise due to certain ferritin fluctuations?

If ferritin not elevated, then perhaps more interesting:
Was ferritin-to-Fe ratio high?

These questions are purely driven by my curiosity, and are not related to any other case.

Thanks,

John

Great case to review

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