leukocyte alkaline phosphatase - low in CML - high in reactive node - leukamoid rxn

WBC Disorders VIII Flashcards by Matt Stanton

chimeric BCR-ABL gene

chronic myeloid leukemia - CML

MPD

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reciprocal (9;22) (q34;q11) translocation

philadelphia chromosome

90% creates the BCR-ABL gene of CML

BCR - 22
ABL - 9

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myeloproliferative disorders

mostly - multipotent progenitor that gives rise to erythrocytes, platelets, granulocytes

less common - pleuripotent giving rise to lymphoid and myeloid clls

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CML clinical

adult 50yo
males

fatigue, weak, weight loss, anorexia

abdominal pain/fullness - dragging sensation in abdomen
-due to EMH

LUQ pain - splenic infarct

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sea blue histiocytes

scattered macrophage with wrinkled green-blue cytoplasm

in CML

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diagnosis of CML

leukocytosis - possibly >100,000
hypercellular bone marrow - granulocytes, eosinos, basos, megas
-sea blue histiocytes and reticulin

LOW LAP**

detection of Ph1 or BCR-ABL fusion gene - chromosomal analysis or PCR based tests

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LAP

leukocyte alkaline phosphatase

low in CML
high in reactive node - leukamoid rxn

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CML prognosis

untreated - slow progression

3 year survival - no tx

50% accelerated phase - blast crisis in 6-12 months
-to AML (majority) or ALL

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ikaros mutation

lymphoid blast crisis in CML

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Tx of CML

BCR-ABL inhibitor - remission 90%

young pt - HSC transplant

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panmyelosis

increased platelets

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polycythemia vera

increased red cells, granulocytes, and platelets

RBC increase - polycythemia - most of symptoms

low EPO levels

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low EPO, JAK 2 mutation, bone marrow study

polycythemia vera

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P. rubra vera

polycythemia vera

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PCV

polycythemia vera

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clinical for polycythemia vera

late middle age
-insidious onset

pruritis, HA, HTN, GI ulcers, splenomegaly

elevated hematocrit**

bleeding and thrombosis

thrombocytosis >500,000 and many abnormal

DVT, MI, stroke

hyperuricemia - gout

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Tx of polycythemia vera

phlebotomy - control RBC mass
-increase life expectancy from months to 10 years

JAK2 inhibitors

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spent stage

polycythemia vera

aftet 10 years

fibrosis of marrow - and massive splenomegaly (due to EMH)

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no tx with PCV

die from bleeding in months

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essential thrombocytosis

increased platelet count
no polycythemia

point mutation in JAK2 or MPL

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JAK2 or MPL mutation

essential thrombocytosis

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essential thrombocytosis clinical

uncommon
adults > 60yo
insidious onset

high peripheral platelet count

platelets enlarged and abnormal

dx of exclusion - rule out other MPDs

dx of essential thrombocytosis

bone marrow biopsy

-megakaryocyte significant increase

tx of essential thrombocytosis

chemotherapy

essential thrombocytosis prognosis

survival 12-15 yrs progression to AML uncommon

essential thrombocytosis

erythromelagia

throbbing and burning hands and feet because of small arteriole occlusion and platelet aggregation with ET

primary myelofibrosis

obliterative marrow fibrosis caused by non-neoplastic fibroblasts difficult to treat pt >60yo

PDGF and TGF-beta

fibroblast activators increased in primary myelofibrosis

JAK2 and MPL mutations

present in primary myelofibrosis

agnogenic myeloid metaplasia

early in progression of primary myelofibrosis

normocytic, normochromic anemia with leukoerythroblastosis on peripheral smear

primary myelofibrosis

primary myelofibrosis prognosis

death 3-5 years | -complications from cytopenias

tx primary myelofibrosis

JAK2 inhibitor | HSC transplant in young

tear drop shaped RBCs

dacrocytes -damaged from fibrotic marrow seen in primary myelofibrosis

histiocytoses

macrophages and dendritic cells

S100, CD1a, HLA-DR

positive in langerhans cell histiocytosis

langerhans cell histiocytosis

considered neoplastic

birbeck granules

racket shaped -vesicular nuclei with linear grooves or folds and vacuolated cytoplasm in langerhans cell histiocytosis

mutations in BRAF

langerhans cell histiocytosis and hairy cell leukemia

letterer-siwe disease

multifocal/multisystem langerhans cell histiocytosis

seborrheic eruption

skin lesion in multifocal LCH

LCH

langerhans cell histiocytosis

multifocal/multisystem LCH clinical

before age 2 cutaneous lesions, fever, infection, chronic otitis media, mastoiditis hepatosplenomegaly, lymphadenopathy, pulmonary and bone lesions

multifocal/multisystem LCH prognosis

rapidly fatal | intense chemo - 50% 5 year survival

eosinophilic granuloma

unifocal and multifocal/unisystem LCH -langerhans cells mixed with eosinos, lymphocytes, plasma cell, neutrophils

unifocal LCH

skeletal system in older children calvarium, ribs, femur

multifocal unisystem LCH

erosive bony masses in children diabetes insipidus - pituitary stalk of hypothalamus

diabetes insipidus

multifocal unisystem LCH

hand schuller christain triad

calvarial bone defect diabetes insipidus exopthalmos in multifocal unisystem LCH

tx for multifocal unisytem LCH

chemotherapy

tx for unifocal LCH

local excision - or radiation - cures most

adult smoker

pulmonary LCH

multiple fine nodules and cysts in middle upper long zones -BRAF mutation - neoplastic with cigarette smoking** cessation - may regress** rare