Please enable JavaScript.
Coggle requires JavaScript to display documents.
Block 5 Disorders - Coggle Diagram
Block 5 Disorders
White blood cell disorders
Chediak-Higashi Syndrome
symtpoms
susceptibility to Staphylococcus Aureus Infection
Albanism
Bleeding
Neuropathy
Defect in lysosomal transport protein
; Affects synthesis & maintenance of storage & secretory granules in various cells
Bruton's Agammaglobulinemia
X-linked mutation in Bruton Tyrosine kinase gene causing failures of B-cell maturation
lack of
IgG
& B-cell production
symptoms
sinopulmonary infections
sepsis due to bacteria not being opsonized or phagocytosed
Treatment
IVIG (IV immunoglobulin), human plasma derived
Eosinophilia
Job's Syndrome
Symptoms
hyper IgE production
reduction in Th17 cells leading to recurrent pneumonias
alteration of inflammatory response
STAT3 mutation
Addison's Disease
Myeloperoxidase (MPO) Deficiency
autosomal recessive
Normal NBT test (still has normal NADPH & normal respiratory burst)
most are characterized by impaired microbial killing
Chronic Granulomatous Disease (CGD)
Defects in gene encoding components of NADPH oxidase (phagocyte oxidase); reduced production of superoxide anion
symtpoms
Chronic inflammation due to persistence of microorganisms
x-linked recessive
Defects in bacterial killing
positive NBT (Nitroblue Tetrazolium) test
Chronic granulomatous inflammation
MDS Neoplasm Disorders
Hallmarks
Anemia
neutropenia
thrombocytopenia
Hypercellular bone marrow (hypo in some cases)
Subtypes
MDS with 5q deletion
seen in older women (angry grammy q survived WW2)
Associated with
thrombocytosis
MDS w/ SF3B1
Anemia (Ringed sideroBlasts)
erythroid dysplasia
VEXAS
mutation in UBA1 protein: causes defect in ubiquitination rxn so misfolded proteins accumulate
Leukemias
Acute
Acute Lymphoblastic Leukemia (ALL)
Mostly a childhood disease
risk factors
Genetic predisposition
Down Syndrome
Environment
treatment
STEM cell transplant
CNS prophylaxis
induction & consolidation chemo
B vs C Cell subtypes
B-ALL (aka B-LBL)
Diffuse large B-cell lymphoma
CD19, CD20, and CD79a
T-ALL (AKA B-ALL)
Sezary syndrome
present with skin patches/ plaques
lymphadenopathy, erythroderma, and pruritus.
“cerebriform” nuclei
Mycosis fungoides
usually adolescent males
expresses T-cell markers like CD2, CD3, and CD5
HTLV-1
This retrovirus is transmitted via breastmilk, IV, sexual contact
Acute Myeloid Leukemia (AML)
Mostly adults (higher incidence in men)
Classifications (WHO)
Genetic mutations
acute promyelocytic Leukemia
(
PML-RARA
fusion gene; treated by All Trans Retinoic Acid ATRA)
ATRA
induces cell maturation
Auer rods
Rod-shaped structures, present in the cytoplasm of myeloblasts, myelocytes, and monoblasts, found in leukemia.
15;17
presents with pancytopenia, anemia
Presents w/ disseminated intravascular coagulation (DIC): low platelet count (with petechiae), high ᴅ-dimer, and low fibrinogen
FLT3 Mutation
(treated w/ Sorafenib)
Mnemonic: FLINT Michigan (29 yr old Sora helped out) think Sheriff
t(8;21)
cell differentiation
Acute Monocytic Leukemia
cytogenetic characteristics
Dx criterion
Immunophenotyping
Cytogenetic Analysis
Morphological Examination
Bone Marrow Blasts > 20% (25% for ALL)
Chronic
Chronic Lymphocytic Leukemia
Hairy Cell Leukemia (BRAF, V600E mutation)
mature B-cell Lymphoma
unique immunophenotype
low grade B-cell (slow accumulation of lymphoctes)
most common adult leukemia
over 50 yrs typically
Chronic Myeloid Leukemia (CML)
BCR-ABL fusion gene from the Philadelphia chromosome
t(9;22)(q34;q11)
Leads to a constitutively active tyrosine kinase, which drives uncontrolled myeloid cell division
MPN Disorders
Thrombotic Disorders (all have
JAK2 mutation
)
Polycythemia Vera
vasomotor symptoms
(eg: Pruritis (itch), Erythromelalgia, Headache, Lightheadedness, syncope (faint), chest pain, paresthesia, livedo reticularis), thrombosis, and
hypercellular bone marrow
Polycythemia = an increased number of RBCs
is most common, but often also presents increased proliferation of white blood cells and platelets
Think
inc. blood viscosity!!
Essential Thrombocythemia
thrombocytosis,
abnormal bleeding
, and increased megakaryocytes
Primary Myelofibrosis
Tear Drop Red Cells
and
Leukoerythroblastic Reaction
, inc. megakaryocytes,
General Hallmarks
Budd Chiari
Neoplastic Plasma Cell Dyscrasias
producing monoclonal gammopathies
myeloma
Multiple Myeloma
light-chain IgG (overproduced); D1/D3 cyclin translocation
rouleaux formation
presents with
bone pain
from lytic bone lesions,
proteinuria,
and a monoclonal
increase in gamma globulins (M spike)
on serum protein electrophoresis,
hypercalcemia
osteoclerotic myeloma
POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, M-protein Skin-changes)
common criteria = CRAB
Def: disease originates in bone marrow plasma cells; Cancer of B-cell derivatives
Monoclonal Gammopathy of Undetermined Significance (MGUS
Plasmacytoma
localized in location as opposed to distributed in multiple myeloma
AL amyloidosis
Waldenström Macroglobulinemia
B-cell neoplasm is associated with
overproduction of IgM
; leading to elevated levels of circulating IgM and increased blood viscosity
W = Upside-down M
M-Spike!
causing
high blood viscosity
Lymphomas
Hodgkin vs Non-Hodgkin
Hodgkin
Characteristics
spreads in a contiguous and predictable fashion from one lymph node group to another
Reed-Sternberg cells
(large, abnormal B cells with bilobed nuclei and prominent nucleoli)
Bimodal age distribution
EBV association
Generally good prognosis
Classical Hodgkin Lymphoma (CD15+, CD30+)
Lymphocyte Rich
Mixed Cellularity
EBV (Epstein Barr Virus)
Nodular Sclerosis
Reed-Sternberg cells
Lymphocyte Deplete
HIV positive cases
Lymphocyte predominant hodgkin Lymphoma
Non-Hodgkin
Characteristics
diverse group of lymphoid malignancies arising from B-cells, T-cells, or NK cells
often involves extranodal sites such as the gastrointestinal tract, skin, or CNS.
without Reed-Sternberg cells
Mostly B-cell origin
associated w/ HIV
Conditions
B- cell neoplasms: (Make My Cum/Semen Find Burk)
Small
Follicular Lymphoma (CD10+)
painless, generalized lymphadenopathy
displays cells that resemble normal follicular zone lymphocytes with a nodular pattern
BCL-2 as a result of t(14;18)
mutations causes less apoptosis
Chronic Lymphocytic Leukemia/ Small Lymphocytic Lymphoma
causes lymphocytosis with CD5+ marker, splenomegaly
Mantle Cell Lymphoma
CCND1
Marginal zone lymphoma
Gastric MALTOMA (marginal zone lymphoma)
triggered by H-pylori, easily treated with antibiotic therapy
Intermediate
Burkitt Lymphoma (CD10+)
abdominal pain, anorexia, constipation, jaw mass
Biopsy often reveals highly mitotic, basophilic lymphocytes surrounding clear zones of macrophages.
c-MYC; 8;14
Stary Sky
Skin (SALT) Lymphoma
Borrelia Burgdorferi (Lyme)
T- cell neoplasms
Mycosis Fungoides
Adult T-cell Leukemia/ Lymphoma
T-cell Lymphoma
Myeloid Neoplasms
Langerhans Cell Histiocytosis
osteolytic bone, lesions, rash, & ___
