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Hematology > Hematological Diseases > Flashcards

Hematological Diseases Flashcards

1
Q

AML with normal cytogenetics

A
  • Normal Cytogenetics
  • Any non-lymphatic cell lineage can be affected
  • DNA sequencing to see if pts will respond to treatment
  • Presentation: any age; pediatric AML is uncommon, but happens Gingival Hypertrophy
  • All AML: bruising, fatigue, bleed, infection, bone pain
  • Immunophenotype: CD34+, + lineage-specific markers
  • Morphology: Undifferentiated
  1. Monocytic/monoblastic
  2. Vacuoles
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2
Q

AML, t(8;21)

A
  • Translocation forming ETO-AML1 [RUNX1-RUNX1t1]
  • Two common ways translocations cause malignancy:
  1. Bind to DNA as co-repressor: inhibit transcription needed for differentiation
  2. Constitutively active pro-proliferation system
  • Inhibits Myeloid Differentiation
  • Presentation: young adults (age associated) and kids; pancytopenia symptoms (fatigue, infection, bleeding).
  • Immunophenoptye: CD13+, CD33+ (Maturing myeloid), CD34+ (Blasts)
  • Morphology: Auer Rods
    1. Crystalized azurophilic granules (MPO); only AML
    2. Large blasts with smooth/smudgy chromatin
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3
Q

Acute promyelocytic leukemia, t(15;17), M3

A
  • Fusion protein of transcription factor and retinoic acid receptor: PML-RARA
  • Inhibits granulocyte differentiation
  • Presentation: thrombocytopenia, DIC, leukocytosis
  • Immunophenotype: CD34-, HLA-DR- (Low Blasts, normal for APL), CD13+, CD33+
  • Morphology: big blasts
  • *1. AuerRod Stacks
    2. Heart-shaped/bat-wing nuclei, Butterfly Nuclei**
  • Best situation is remission –> NO CURE
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4
Q

Acute myelomonocitic leukemia, inv or t(16;16)

A
  • Fusion protein of transcription factors: CBFB-MYH11
  • Inhibits myeloid maturation
  • AKA “Core-Binding Factor” Leukemia
  • FISH diagnosis for inversions is backwards. Normally, fusion signals bad, but for inversions they’re normal.
  • Presentation: Kids, adults
  • Immunophenotype: CD34+, CD117+ = blasts, CD13+, CD33+ = maturing granulo, CD14+, CD11b+ = monocyte
  • Morphology:
    1. Mixed granulocyte-monocyte (myelomonocytic)
    2. Eosinophilia
  • Prognosis: POOR, chemo improves
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5
Q

CML, t(9;22)

A
  • p210 BCR-ABL1 (Philly chrom): INC TK activity
  • Pluripotent stem cell affected (myeloid + lymphoid) If granulocyte/monocyte –> Chronic Myelomonocytic Leukemia (CMML)
  • Blast Criss (4-5 years): Chronic Phase -> Accelerated -> Blast Phase -> Leukemia (blasts, but NO Auer rods)
  • Presentation: 30-60 years (age related), asymptomatic PE: Hepatosplenomegaly (chronic disease); exposure: ionizing radiation + benzene
  • Morphology: BM Hypercellular, no blasts (pre blast crisis), and unexplained basophilia in PS
  • DDx:
  1. RT-PCR of BCR-ABL1
  2. Low LAP b/c non-functional leukocytes (vs. Leukemoid Rxn)

*Leukomoid reaction: normal leukocytosis–> left shift; has high LAP

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6
Q

Mastocytosis

A
  1. C-KIT mutation
  2. PDGF-RA via F1P1 translocation
    - Increased tyrosine kinase activity: mast cells
    - Usually presents outside the bone marrow/lymph nodes
    - Similar to Chronic Eosinophilic Leukemia
    - Presentation: variable, confusing
    - Immunophenotype:

1. Tryptase+ (mast cell granule)

  1. CD117+ (Blast CKIT, SCF-receptor), CD25+
    - Morphology: Bland looking cells, possible eosinophilia
    - Treatment: Imatinib
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7
Q

Primary myelofibrosis

A
  • Jak2 Mutation on Ch. 9 Short arm - increased TK signaling via J/K pathway
  • Abnormal megs secrete cytokines –> deposition of Type 3 Collagen –> Marrow Fibrosis + Extra-medullary Hematopoiesis (EMH)
  • EMH –> Fibrohematopoietic Extra-Med. Tumors
  • Presentation: >50 year olds w/splenomegaly, portal hypertension, osteosclerosis/bone pain, cytokine-like symptoms (muscle wasting), and thrombosis
  • Morphology:
  1. BM - Full of Type 3 collagen
  2. Peripheral Blood - bizarre megs, abnormal platelets, tear drop RBC, nucleated RBC
  • DDx: Reticulin Stains for Fibers
  • Treatment: Supportive care (blood transfusion)
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8
Q

Polycythemia vera

A
  • Jak2 Mutation on Ch. 9 short arm - increased effect of growth factors (95%)
  • Erythroid lineage primarily affected > megs > others

- INC RBC/HCT –> sludgy RBC movement –> bad

  • Presentation: thrombosis, CNS symptoms, itchiness after hot bath, facies, blurred vision (retinal distention), splenogmegaly
  • Labs: DECREASED EPO (best to rule out reactive polycythemia)
  • Morphology: erythroid hyperplasia (BM) Increased RBC (PS)
  • Treatment: Phlebotomy, deplete iron, aspirin, myelosuppressive
  • Prognosis: Progress to MDS, AML, Myelofibrosis
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9
Q

Essential thrombocythemia

A
  • Jak2 Mutations (50% of cases)
  • Excess of dysplastic/abnormally functioning platelets from Megs
  • Have to differentiate ET from Secondary Thrombocythemia; Bleeding, inflammation, iron deficiency or asplenia will cause secondary thrombocythemia. Platelet count will not extremely high. TPO will be high.
  • Pharmacology/Treatment: Hydroxyurea
  • Presentation: thrombosis OR bleeding (GI), splenomegaly
  • Morphology:
    1. Increased megs, large/abnormal megs, clustering megs
    2. Bizarre platelets = Meg Fragment
  • DDx:

1. Extremely elevated platelets

2. Normal TPO

  • Prognosis: 10 yr survival, but can progress to myelofibrosis, MDS, acute leukemia
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10
Q

Refractory cytopenia with unilateral dysplasia

A
  • Clonally expanded acquired mutation of stem cell for one lineage
  • Monosomies/trisomies may be present
  • Diagnosis made on morphological findings
  • Presentation: unexplained cytopenia(s) in elderly population (>65 years)
  • Immunophenotype: Abnormal markers
  • Morphology: Weird looking precursors; binucleation or irregular nuclei; can show fibrosis, high or low cellularity, megaloblastoid features
  • Prognosis: Survival normal for age (rarely progress to AML)
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11
Q

Refractory anemia with ring sideroblasts

A
  • Clonally expanded acquired mutation in erythroid cell line
  • Monosomies/trisomies may be present
  • Dx via morphological findings + IRON STUDIES
  • Presentation: unexplained cytopenia(s) in elderly pop (>65 years); anemia + associated symptoms
  • Immunophenotype: Abnormal markers
  • Morphology: Ring sideroblasts with dyspoietic features in red cells only
  • Prognosis: Survival normal for age (rarely -> AML)
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12
Q

MDS with isolated deletion 5q

A
  • Loss of large arm of chromosome 5 (CYTOGENETICS)
  • ALL megas fail to divide nuclei –> mononuclear megs
  • 10% progress to AML
  • Presentation: Anemia (severe), elderly (>65), women
  • Morphology: ALL megs are mononucleated
  • Prognosis: Good survival, treat with lenalidomide
  • NOTE: Morphologic/cytologic features usually make dx failry easy
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13
Q

Refractory cytopenia with multilineage dysplasia

A
  • BAD PLAYER, CLINICALLY -> little to offer pts.
  • Clonally expanded acquired mutation in MULTIPLE cell lineages
  • 50% show non-specific cytogenic abnormalities
  • Morphology: based on linages affected; if granulocytic, abnormal granules; if erythroid, expect nRBC, etc.
  • Presentation: Anemia (severe), elderly (>65), women
  • Immunophenotype: Abnormal markers
  • Morphology: Granulocytes lacking normal granules; abnormal lobulation
  • Prognosis: Median survival 30 months; 10% progress to AML in 2 years
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14
Q

Refractory anemia with excess blasts

A
  • BAD PLAYERS -> used to be called “pre-leukemia
  • RAEB-1: 5-9% morphological blasts
  • RAEB-2: 10-19% morphological blast
  • >20% — Acute Leukemia
  • 50% show nonspecific abnormal cytogenics
  • How is this different from Acute Leukemia? AMLs devo blasts from translocated mut that halts differentiation. Here, mut occurs that is clonally expanded and takes over as a cell line. This is more like a TRUE malignancy
  • Presentation: cytopenia in elderly patient (65+ yrs)
  • Immunophenotype: Blast Population: CD34+, CD117+
  • Morphology: Blasts and dyspoeitic maturation
  • Prognosis: RAEB-1 progression to AML (25%) RAEB-2 progression to AML (33%)
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15
Q

B-Cell ALL, t(9;22)

A
  • Fusion protein of BCR-ABL1
    1. Fusion protein of serine-threonine kinase (BCR) to TK (ABL1) -> INC proliferation — Class I mutation
    2. IKZF1 transcription factor INH (differentiation inhibited) — Class II mutation
  • Different than CML t(9;22); diff break in oncogene; DIFFERENT FUSION PROTEIN
  • Presentation: kids and older adults
  • Immunophenotype: (early B cell): CD 10+, 19+, TdT+
  • Morphology: Big, agranular blasts
  • POOR PROGNOSIS
  • Treatment: Imatinib is also an option
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16
Q

B-Cell ALL, t(11;19)

A
  • Rearranged MLL
    1. Fusion of transcription regulator (histone methyl transferase) to many chromosomes (Class II)
    2. FLT3 mutations (Class II) -> INC proliferation
  • MLL becomes transcriptional repressor –> decrease differentiation
  • Presentation: Kids <1year; most common form in very young children
  • Immunophenotype (early B cell): CD10- (differentiate between t(9;22) ALL), CD19+, TdT+
  • POOR PROGNOSIS
  • Morphology: Big agranular blasts
17
Q

B-Cell ALL, t(12;21)

A
  • Fusion protein of TEL-AML1 [ETV6-RUNX1]
    1. Dominant negative transcription factor (Class II) 2. Pax5 mut inhibits differentiation (Class II)
  • GOOD RESULTS - 90% CURE
  • Presentation: Kids - 25% of all pediatric B-ALL
  • Immunophenotype: CD34+, CD20-, TdT+, CD34+
  • Morphology: big agranular blasts
18
Q

Hairy cell leukemia

A
  • BRAF V600F mutation
  • Only leukemia WITHOUT lymphadenopathy
  • Key diagnostis: resistant to Tartrate-resistant acid phosphatase (TRAP)
  • Presentation: thrombocytopenia, splenomegaly, dry bone marrow *Common in middle aged men
  • Morphology: “hairy cell”; fried egg
  • Immunophenotype: CD19, CD20
  • Treatment: Rituximab, IFN alpha
19
Q

T-Cell ALL

A
  • Oncogene translocated to Ig or TCR promoter (any of the 3 TCR loci in the genome)
    1. Example: t(14;10) (TCR-alpha;HOX11)
  • Prognosis -> High Risk (but if treated correctly, their prognosis can be just as good as lother patients)
  • Presentation: kids - 25% of all pediatric, thymic, lymph mass, splenomegaly (where T cells go)
  • Immunophenotype: CD3+, 5+ (T cell markers), TdT+ (marker of T/B cell precursors), B-cell/myeloid CDs/Ags
  • Morphology: big agranular blasts
20
Q

Classical Hodgkin’s lymphoma

A
  • Etiology:
  1. No Ig expression
  2. Anti-apoptosis (via NFkB or EBV)
  3. Genetically unstable, more mutations
  • Affected Cell: B-Lymphocyte –> R-S Cell
  • Four Types:
    1. Nodular lymphocyte predominant (best prognosis)
  1. Nodular sclerosing (women > men)
  2. Mixed cellularity (most associated with EBV)
  3. Leukocyte Depleted (worst prognosis)
  • Presentation: Older men (except nodular sclerosing) w/cervical adenopathy, B- like symptoms, rare extra-nodal involvement, EBV infection
  • Immunophenotype: (different in lymphocyte dominant HL): CD15/30+ = RS Cells, CD20+, Pax5+
  • Morphology: RS Cells over diverse cellular backdrop
21
Q

Nodular lymphocyte dominant Hodgkin’s

A
  • Etiology:
  1. Ig is EXPRESSED
  2. Anti-apoptosis (NFkB, EBV)
  3. Genetically unstable, more mutations
  • Affected Cell: B-cell —> Lympho-histocytic (L/H Variant) BEST PROGNOSIS
  • Presentation: older men w/cervical adenopathy, B- like symptoms, rare extranodal involvement, EBV infection
  • Immunophenotype: CD15/CD30- (fewRScells), CD20+, Pax5+
  • Morphology: RS cells with collar of T-lymphocytes; popcorn cell
22
Q

CLL

A
  • Strom Etiologies:
  1. Deletion in Chromosome 13 (good prognosis)
  2. Deletion in Chromsome 17 (p53 - bad prognosis)
  • Big Complication: Hypogammaglobulinemia - look for recurrent infections
  • CLL and SLL are similar: CLL high peripheral lymphos; SLL is LYMPHoma and CLL is leukemia (blood’s territory)
  • Affected Cell: Memory Cell
  • Presentation: older men w/recurrent infections (hypo-gammaglobulinemia), warm hemolytic anemia
  • Immunophenotype: light chain restricted (clonal), CD 20+ (weak), CD 5 + (odd, but characteristic phenotype of CLL/SLL)

***ZAP-70 expression is BAD
***CD38 expression is BAD

  • Lymph Node: effaced lymph node = pseuodofollicular
  • Peripheral smear: small lymphocytes, SMUDGE CELLS
23
Q

Mantle cell lymphoma

A
  • t(11,14) - CyclinD1-IgH
    1. Cyclin D1 expression pushes cells: G1—>S
  • Affected Cell: B cell in (pregerminal center) mantle zone or memory cell in periphery
  • Presentation: similar to CLL, but worse prognosis (older men w/recurrent infection, warm hemo anemia)
  • Immunophenotype: Light chain restricted, CD20+ (strong), CD5+, K1g7+ = marker for fast growth
  • Lymph Node: effacement = Starry Sky
  • PS: SMUDGE CELLS
  • Treatment: combination (Fludrabine + Rituximab; CVP, CHOP, CHOP-R)
24
Q

4 characteristics of lymph node malignancies

A
  1. All centroblasts or centrocytes (centroblasts worse b/c less differentiated)
  2. Clonal expansion of centroblasts or centrocytes that have evaded apoptosis in lymph node by upregulating BCL-2/BCL-6
  3. Decreased mitosis - most malignancies upregulate proliferation. This decreases it.
  4. Fewer tingible body macrophages
25
Q

Follilcular lymphoma

A
  • t(14;18) IgH-BCL-2
    1. Grade 1: lots of centrocytes –> least aggressive
    2. Grade 2: mixture of centrocytes/centroblasts
    3. Grade 3: lots of centroblasts —> aggressive
  • Presentation: older, w/painless lymphadenopathy (if painful = reactive (flu))
  • Lymph Node: follicular hyperplasia, effacement of architecture, slow mitosis +, few tingible body macros (indolent, slow growing)
  • Immunophenotype: CD 19, CD 20+ (B Cell), CD 10+ (Germinal Center), BCL-2
  • DDx: immunohistochemistry + immunophenopyting (BCL-2 stain)
  • Prognosis: see grade; progress to diffuse large B cell lymphoma
26
Q

Diffuse large B-cell lymphoma

A
  • T(V; 3) - BCL-6, t(14;18) - BCL2-IgH
  • Most common NHL in Adults; poorly defined group
  • Differs from Follicular Lymphoma: 1. Extranodal involvement, 2. RAPID DIVISION
  • Presentation: older patients (few pediatric cases)
  • Immunophenotype: CD19+, CD20+, CD10+, BCL-6/BCL-2+
  • Lymph Node: Immature (large B) cells w/high mitotic rate
  • Treatment: CHOP + R-CHOP
27
Q

Burkitt lymphoma

A
  • t(8;14), t(2;8), t(8;22)
  • MYC gene + IgH, IgL, IgK
  • African Burkitts - malaria belt, EBV
  • Sporadic - everywhere else, NOT EBV associated
  • Presentation: Endemic: Jaw Lesions; Sporadic: pelvic lesions or abdomen
  • Immunophenotype: CD19+, 20+, 22+, 79+, Ki-67+
  • Morphology: starry Sky appearance with sheets of lymphocytes/blasts containing empty spaces of tingible body macrophages
  • Treatment: usually curable in children; long term cure not likely
28
Q

5 characteristics of T-cell lymphomas

A
  1. Not usually caused by translocation (except ALK+ Ananplastic Large Cell Lymphoma - t(2;5)); these are clonal expansion of
  2. Early odd number CDs
  3. Thymus: TdT+, cytoplasmic CD3, CD4 AND CD8
  4. Peripheral: CD4 OR CD8, surface CD3
  5. Determine clonality
29
Q

Peripheral T-cell lymphoma, not otherwise specified

A
  • Poorly defined group of AGGRESSIVE T-Cell lymphoma
  • Aggressive; survival <5 years
  • Presentation: Lymphadenopathy, paraneoplastic syndromes (hemolytic anemia); B-type symptoms
  • General Immunophenotype: T-cell markers + abnormal markers (B-cell, random)
  • Lymph Node: cells too uniform for the lymph node
  1. Expanded paracortex
  2. Effacement of architecture
  3. Paracaortical Epitheliold Histocytes
30
Q

Mycosis fungoides and sezary syndrome

A
  • Both involve Neoplastic CD4 T Cells
  • Sezary syndrome is mycosis fungiodes w/leukemic phase - circulating cells are called Sezary cells
  • Presentation: skin rash, pruritis, psoriasis; neoplastic cells in epidermis are called Pautrier’s microabscesses
31
Q

Aplastic anemia

A
  • Reduction or deletion of hematopoietic stem cells b/c:
    1. Cells are damaged
    2. Immunosuppression of hematopoiesis
    3. Bad BM environment
  • Congenital: Faconi’s + Familial Aplastic
  • Acquired: Benzene, ionizing radiation, infections, PNH
  • Important point: aplastic anemia is not malignancy
  • Of all the causes, autoimmune destruction of stem cells is the PRIMARY CAUSE OF APLASTIC ANEMIA
  • Presentation: variable, anemic (normocytic), bleeding, infections, PERIPHERAL CYTOPENIA, HYPOCELLULAR MARROW
  • Labs: pancytopenia; maybe luekocytosis (relative), decreased reticulocyte count (BM failure)
  • Morphology (BM): hypocellular, yellow marrow (fat; note image on front of card)
  • Treatment: Remove causing agent, supportive care, Immunosupressive, HSCT
32
Q

Multiple myeloma

A
  • Abnormal plasma cell clonal expansion leading to multiple lytic bone lesions
  • Bone lesions caused by myeloma cell production of DKK1 —> IL6 —> RANK-L –> stimulates osteoclasts, inhibits osteoblasts
  • IgG > IgA > IgM (Waldenstrom’s Syndrome)
  • NOT Monoclonal Gammopathy of Uncertain Significance (MGUS; benign myeloma), Smoldering Myeloma
  1. Stage1 - Normal Bence Jones; Hg, few lesions
  2. Stage2 - not 1 or 3
  3. Stage3 - Lots of Bence Jones, multiple lesions, anemic
  • Presentation: old, AA, arthritis, pain; CRAB, cytopenia (plasma cell infiltration), low Ig_ levels (other than IgG)
  • DDx: Serum Plasma E-Phoresis –> Immunofixation, M-Spike (monoclonal protein)
  • Immunophenotype: CD38, CD138 (Plasma Cell) CD19-, CD20-
  • Peripheral Smear: Rouleax formation in blood
  • BM: holes in bones; packed with irregular plasma cells
  • Deletion of Ch. 17 is key genetic (negative) predictor
  • Treatment: Bortezumib (protesomes), lanilomide (mmunomodulator), HSCT
33
Q

Waldenstrom’s hypogammaglobulinemia

A
  • Lymphoma producing excess IgM paraprotein caused by maturation arrest b/t mature B-cell and plasma cell
  • Act like myeloma, but as a mass they are lymphoma
  • Presentation: hyperviscoscity syndrome because of pentameric IgM, NO BONY DESTRUCTION
  • DDx: SPEP, Immunofixation
  • Treatment: Rituximab, Borezamib, lanalidomide
34
Q

Amyloidosis

A
  • Abnormal protein caused by light chain build up
  • Associated with chronic inflammation, familial (transtyretin), secondary to myeloma
  • Presentation: any organ affected by amyloid – Heart, liver, kidney, macroglossitis (swollen tongue), and
    neuropathies
  • DDx: CONGO RED STAIN–> APPLE RED BIREFRINGENCE
  • Treatment: borizamib, lanilomide
    *if familial (transthyretin) –> bone marrow transplant

Hematology (19 decks)

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