Oncology & Hemat Flashcards
G6PD Def
(X-linked recessive)
Bite & blister cells
Heinz bodies
reduced NADPH levels
leads to a lack of the enzyme glucose-6-phosphate dehydrogenase, making red blood cells vulnerable to oxidative stress, which can cause premature breakdown (hemolysis) and hemolytic anemia.
common in males, present in newborns, childrens, and adults
G6PD Def causes
Drugs- cipro, sulphur, Premaquine
can manifest as hemolytic anemia, characterized by red blood cell breakdown, causing symptoms like pallor, jaundice, dark urine, fatigue, and potentially an enlarged spleen, triggered by factors like infections, certain medications, or fava bean consumption
APML
DIC
T-15 17
Treatment - ATRA
Acute leads poisoning features
abdominal pain, Neurological, blue lines on gum margines,
baso
Basophilic stippling
small, dark-blue/purple granules -ribosomal RNA aggregates
Lead Poisoning, Thalassemia, megaloblastic anemia , sideroblastic anemia, Myelodysplastic Syndromes
cold autoimmune haemolytic anaemia causes
Action - IgM autoantibodies cause RBC agglutination
causes - Mycoplasma pneumoniae, Epstein-Barr virus, lymphoma,
warm autoimmune haemolytic anaemia causes
IgG
SLE, rheumatoid arthritis, CLL, lymphoma, Epstein-Barr, solid tumors, alpha-methyldopa, transplants
CLL worse prognostic factors
TP53 (tumor suppressor gene) - del 17p,
Bone Mets in descending order
cancers
1. prostate
2. breast
3. lung
common sites of deposition
spine
pelvis
ribs
skull
long bones
methemoglobinemia causing drugs
dapsone, local anesthetics like benzocaine and lidocaine, poppers
congenital causes - enzyme cytochrome b5 reductase, NADH MHB reductase ,
Normal hemoglobin has iron in a reduced state (ferrous, Fe2+), while methemoglobin has iron in an oxidized state (ferric, Fe3+).
Symptoms of Methemoglobinemia:
Cyanosis
Fatigue and Weakness: A general feeling of tiredness and lack of energy.
Headache: Pain in the head.
Shortness of Breath: Difficulty breathing.
Nausea and Vomiting: Feeling sick to the stomach and throwing up.
Dizziness and Lightheadedness: Feeling unsteady or faint.
Rapid Heart Rate: An increased heart rate.
Confusion and Lethargy: Disorientation and drowsiness.
Seizures: Uncontrolled muscle spasms.
Loss of Consciousness: Fainting or becoming unconscious.
Chocolate-Brown Blood: A telltale sign of methemoglobinemia is the presence of dark, brown-colored blood
CML mech
chromosomal translocation (t(9;22)) that creates the BCR-ABL1 fusion gene
High WBC, Basophelia, splenomigaly
asymptomatic at presentation in approximately 50% of patients. Symptoms, if present, typically include malaise, fever, weight loss, abdominal discomfort, and night sweats. Splenomegaly is the most common physical finding; elevated WBC count
Hereditary Angioedema identification
C1 - acute attack
C4 - in between attracks
Leukemia connected witrh DIC
acute promyelocytic leukemia
Li Fraumeni syndrome
Germenite mutation to P53
pentade of TTP
Fever, Anemia (microangiopathic hemolytic anemia), Trombocytopenia, Renal dysfunction, and Neurologic abnormalities
rare and potentially life-threatening blood disorder characterized by the formation of blood clots in small blood vessels, leading to low platelet counts, red blood cell breakdown (Schistocytes - key indicator of MAHA), and potential organ dysfunction
treatment - Plasma Exchange, prednisone, help to slow or stop the body from forming antibodies against the ADAMTS13 enzyme, Rituximab - anti-CD20 monoclonal antibody that helps to reduce the number of B cells, which are responsible for producing the antibodies that cause , Caplacizumab
Congenital TTP: In cases of congenital TTP, where the ADAMTS13 enzyme is deficient, fresh frozen plasma infusions may be used to replace the missing enzyme
TTP mechanism of action
congenital or acquired absence/decrease of the von Willebrand factor-cleaving protease ADAMTS13
Wiskott-Aldrich syndrome
primary immune deficiency (combined B & T), eczema, irritated skin, thrombocytophenia
X linked ressesive
Essential thrombocytosis
JAK2, CALR, MPL
myeloproliferative neoplasms
overlap with CML, PRV, and myolofibrosis
Tthrombocytois causes
stress
- oestrogen in post menapause
- aromataze inhibitors
- Serm
- andregen
- anastrezole and lestrazole
- act as a oestragen receptor antagonist
tumor lysis syndrome treatment
Rasburicase should not be given with Allopur
tumor lysis syndrome features
high K+
High Ph+
low Ca+
cisplatin mechamism
cross linking DNA hypomagnisemia
Acute intermittent porphyria
inherited metabolic disorder caused by a deficiency of the enzyme porphobilinogen deaminase
Waldenström macroglobulinemia
abnormal protein (IgM) > 50
affects B-cells
non-Hodgkin lymphoma
generalized muscle weakness, fatigue
Hyperviscosity - retinopathy, headache, vertigo, mucosal bleeding, seizures and coma
Bence Jones proteinuria in 10% of cases
Constitutional symptoms, splenomegaly, anemia and lymphadenopathy
Aplastic anemia treatment
- Blood Transfusions
- Antibiotics
- Immunosuppressive Therapy ATG. ALG, Cyclosporine
- BMT
- Medications - Growth factors, Eltrombopag, Hypomethylating agents
polysythaemia Rubra Vera causing cancers
convert to Myolofibrosis, AML
a disorder where too many red cells are produced in the bone marrow, without any identifiable cause.
common in males over 40
blood test - erythrocytosis, leukocytosis, thrombocytosis, Increased Hematocrit & Hemoglobin, Decreased Erythropoietin
test - JAK2 mutation
fatigue, headaches, dizziness, and itching, especially after a warm bath, as well as an increased risk of blood clots and bleeding.
ITP platelet receptor
gp -iib/iiia , ib -v9
Treatment for sideroblastic anemia
pyridoxine (vitamin B6), blood transfusions, iron chelation
ring sideroblasts anaemia causes
gentical, medication, alcohol
post splenectomy blood film
Howell-Jolly bodies, Pappenheimer bodies, target cells, and acanthocytes
potential leukocytosis and thrombocytosis
After a splenectomy (spleen removal), individuals are at increased risk of infections, overwhelming post-splenectomy infection (OPSI), bleeding, blood clots, or pneumonia.
CML translocation gene
Philadelphia chromosome, 9-22
Von Willebrand disease
1. impact
2. treatment
3. types
- Mucocutaneous Bleeding, bleeding from gums, menohrragea , Easy bruising:, Frequent nosebleeds, GI/ Urinary bleeding
autosomal dominant, caused by a deficiency or dysfunction of von Willebrand factor (VWF), a protein crucial for blood clotting, either quantitatively or qualitatively - Desmopressin (DDAVP), tranexamic acid, Factor Replacement Therapy,
- Type 1: Partial deficiency of VWF - mild or no symptoms
Type 2: Qualitative defects in VWF
Type 3: Complete deficiency of VWF - near-total absence of von Willebrand factor (VWF) and a significant deficiency in factor VIII (FVIII), leading to a severe bleeding disorder with symptoms like easy bruising, prolonged bleeding, and potential for hemarthrosis and muscle hematomas - prolonged bleeding time, prolonged APTT
should be informed to haematologist before surgery, dental extraction, new medication - NSAIDS, aspirin
hereditary spherocytosis diagnosis test
EMA binding
MCHC high
Beta thalassemia major (Cooley’s anemia) patho
two mutated beta-globin genes
Beta Thalassemia Trait (Minor) signs
3.5< HbA2, minor anaemia
microcytosis is dispropotionately low compared with anemia
asymptomatic
Alpha Thalassemia Major (Hemoglobin Bart’s Syndrome) patho
2. present as
absence of all four alpha-globin genes
2. fetal hydrops, stillbirth
3. chromsome 16
- Acute intermittent porphyria (AIP) signs
- diagnosis
- abdo, neuro, psych, inherited metabolic disorder
- porphyrin precursors in the urine
Burkitt lymphoma gene mutation
translocation of the MYC - proto-oncogene- 8, 14 chromozome
- stary sky appearance,
- E B V associated
- three clinical forms: endemic, sporadic, and immunodeficiency-associated.
Burkitt lymphoma treatment
2. treatment for tumor lysis
Chemotherapy,
2. rasburicase
3.
general features of hemolytic anemia
anaemia, reticulocytosis, low haptoglobin, raised LDH, blood film - spherocytosis, reiculocytosis, positive coombs test,
criteria for multiple myeloma,
C: alcium: Elevated calcium levels in the blood.
R: enal insufficiency
A: nemia: Low red blood cell count.
B: one disease: Bone damage or fractures.
MGUS (Monoclonal Gammopathy of Undetermined Significance
M-protein or paraprotein
monoclonal paraprotien band <30
Plasma cells <10% on bone marrow
No CRAB syndromes
Asymptomatic premalignant state
Follicular lymphoma (FL) gene
14-18
Slow-growing, considered an indolent lymphoma, Arises from B-lymphocytes
Painless swelling in lymph nodes, often in the neck, armpit, or groin. Other symptoms can include fatigue, loss of appetite, and unexplained aches and pains.
Can sometimes transform into a faster-growing lymphoma.
Cisplatin mechan
cause low magnesium,
Crosslinking DNA
Cause acute tubular nectrosis -
Sickle cell long term treatment
hydroxicarbomide
CLL blood picture
Smudge cells
Haptoglobin levels in hemolytic anemia
1. mechanism
low
IgG4 disease
Chronic, immune-mediated condition that can affect multiple organs, often presenting with tumor-like masses and fibrosis
Trali features
2. management
low saturation, high RR, high HR, low BP, raised temp,
2. stop transfusion, IV fluids, Oxygen, supportive care
Teardrop poikilocytosis/ dacrocytosis along with high platelet & WBC
Myelofibrosis
Cyclophosphamide
Cross linking DNA
Methyotrexate action
inhibit DHF reductace and Thimiddilate synthesis
cause myeolo suppression, liver & lung fibrosis, mucocytosis
CML treatment
Imatinib - tyrosine kinase inhibitor
drugs can cause peripheral neuropathy
Platinum drugs, such as cisplatin, carboplatin, and oxaliplatin
Taxanes, such as docetaxel, paclitaxel, and cabazitaxel
Vinca alkaloids, such as vinblastine, vincristine, vinorelbine, and etoposide
Waldenström macroglobulinemia
lymphoplasmacytic lymphoma, slow-growing type of non-Hodgkin lymphoma,
originates in B-cells , IgM affected
CLL diagnosis
Immunophenotyping
other presentations - persistent lymphocytosis (at least 5 x 10^9/L B lymphocytes in the peripheral blood for at least 3 months) and confirmation of B-cell clonality using flow cytometry. Peripheral Blood Smear, Smudge Cells
APML
treatable, type of acute myeloid leukemia (AML) characterized by the overproduction of immature white blood cells called promyelocytes, often leading to bleeding and clotting problems 15,17
Diagnosis: APML is diagnosed through blood tests and bone marrow biopsies
pancytophenia
cancer connected to
1. EBV
2. HTLV 1
3. HIV
4. H Pylori
5. malaria
- Hodgkin’s, Burkitts lymphoma, nasopharangial carcinoma
- Adult T cell leukaemia/lymphoma
- high grade B cell lymphoma
- MALT
- Burkitt’s lymphoma
leukemoid reaction
increase in presence in immaure cells, myloblasts, promyoloblasts]
infection, bonen marrow,
Cryoglobulinemia
1. type 1
2. treatment
- associated with multiple myoloma,waldenstrom
- plasmapheris
differentiate CML from leukemoid reaction
Leukemoid reaction - high laps score, toxic granules, dolls bodies in WBC, left shift in Neutrophils
Taxenes , docetaxens actiom
prevents microtubule depolymerization & disassebly decresing free tubulin
Multiple Myeloma
Neoplastic proliferation of a single plasma cell lineage aka M-protein (Usually of the IgG or IgA type)
Paraprotein >30g/L
Plasma cells >10% on bone marrow
CRAB SYMPTOMS
prognostic criteria -
1. Clinical Factors - stage, age, blood test results(Hemoglobin Level, Serum Calcium, Renal Function, M-Protein Levels)
2. Blood test results - beta-2-microglobulin, albumin, LDH, creatinine, CRP),
3. genetic abnormalities (chromosome 13 (del(13))), translocations t(4;14) and t(14;16) High plasma cell proliferation (PCLI)
4. response to treatment
Graft-versus-host disease
skin biopsy
bone marrow macrophagous
Cryoglobulinemia
Hepatitis C virus, recuded C3/4
Common variable immunodiefficiency
low antibody levels, recurrent infections,
APML treatment
All trans retinoid acid
CML Vs CLL
CML occurs in myeloid cells, while CLL occurs in lymphocytes
Associations of Thymoma
Pure red cell aplasia, SLE, dermatomyocitis, SIADH, MG
common lung cancers
1. smokers
2. non smokers
- small cell lung cancers
- adenocarcinoma
Essential thrombocytosis
Platelet >600
wafferin induced skin nectrosis
protien C diefficiency
doesnt inactivate factor 5a,8
paroxisimal nocturnal heam urea connection
AML
If MG suspected next step
CT to find mediastinal mass
drug to Decrease the incidence of infection resulting from neutropenia
filgrastim
Coproporphyrinogen III
common test for lead toxi
Hereditary spherocytosis
An inherited blood disorder causing red blood cells to become spherical and fragile, leading to their premature destruction and resulting in anemia, jaundice, and splenomegaly.
autosomal dominant
Common complications:
cholelithiasis, haemolytic episodes, and aplastic crises
Anemia: Jaundice, Splenomegaly, Gallstones,
Autoimmune hemolytic anemia (AIHA
is the most common autoimmune condition associated with chronic lymphocytic leukemia (CLL) and small lymphocytic lymphoma (SLL).
hodgkin lymphoma
often presents with painless swelling of lymph nodes, especially in the neck, armpits, or groin, along with symptoms like fever, night sweats, and unexplained weight loss., Pain with Alcohol, more common in young adults
Diagnostic Tests: Lymph Node Biopsy, Reed-Sternberg Cells,
Sickle cell disease
characterized by abnormally shaped, rigid red blood cells that block blood flow, leading to pain, anemia, and other complications
autosomal recessive pattern
increased risk of infections from encapsulated bacteria like Streptococcus pneumoniae, Haemophilus influenzae, and Neisseria meningitidis due to functional asplenia and immune deficiencie
valine to glutamic acid mutation
AML
prognostic markers - cytogenetic and molecular mutations
Mutations in genes like NPM1 and CEBPA, Cytogenetics - t(8;21) and inv(16) are associated with a better prognosis
Mutations in genes like FLT3 (especially FLT3-ITD), TP53, deletions of chromosome 7 or 5q, and complex karyotypes - worse
features - fatigue, fever, infections, easy bruising, and bleeding, Hepatomegaly and Splenomegaly,
most important lab test - clotting screen (exclude DIC)
Cytogenesis - prognosis & diagnosis
Iron diefficiency anemia
coilinichia chararacteristic
Hemophilia A,
genetic bleeding disorder caused by a deficiency of clotting factor VIII, X-linked recessive
prolonged partial thromboplastin time (APTT) test, along with normal prothrombin time (PT) and platelet count, normal bleeding time
Hemophilia B, also known as Christmas disease
hereditary bleeding disorder caused by a deficiency of blood clotting factor IX
X-linked Recessive
Mantle cell lymphoma (MCL)
a rare, aggressive type of non-Hodgkin lymphoma (NHL) that develops from B-cells, specifically in the mantle zone of lymph nodes, often affecting older adults and men, and can spread to other parts of the body.
type - B-cell lymphoma, t(11;14)(q13;q32)
Disseminated intravascular coagulation (DIC)
characterised by activation of coagulation pathways, resulting in formation of intravascular thrombi and depletion of platelets and coagulation factors.
Clinical history can include epistaxis, gingival bleeding, haematuria, oliguria, cough, dyspnoea, fever, delirium, and coma. Physical examination may reveal petechiae, ecchymosis, gangrene, mental disorientation, hypoxia, hypotension, and gastrointestinal bleeding
Diagnosis is based on presence of ≥1 known underlying conditions causing DIC plus abnormal global coagulation tests: decreased platelet count, increased prothrombin time, elevated fibrin-related marker (D-dimer/fibrin degradation products), and decreased fibrinogen level.
Treatment of DIC depends on the underlying condition and presentation, but options include fresh frozen plasma, platelet concentrate, antithrombin III, and heparin.
Hairy cell leukemia (HCL)
associated with a high frequency of the BRAF V600E mutation
accumulation of abnormal B cells with “hairy” projections in the blood, bone marrow, and spleen, leading to pancytopenia and splenomegaly.
patients on analogues for cancer (fludrabines) need irradiated blood
at the risk of graft vs host disease
(pancytophenia, liver disfunction, dierrhoa, rash)
If on Fludrabin - cotrim should be started to prevent pneumocystis
polycythemia,
mutations in hemoglobin can lead to a high oxygen affinity, causing the body to produce more red blood cells to compensate for the reduced oxygen delivery to tissues
Myelofibrosis (MF)
a rare blood cancer where scar tissue (fibrosis) builds up in the bone marrow, hindering its ability to produce blood cells, and is part of a group of blood cancers called myeloproliferative neoplasms (MPNs).
can convert to AML
fatigue, shortness of breath, an enlarged spleen (splenomegaly), and in some cases, an enlarged liver (hepatomegaly), along with other symptoms like weight loss, night sweats, and easy bruising or bleeding.
blood picture - teardrop poikilocytes (dacrocytes), along with other features like nucleated red blood cells and immature granulocytes.
diagnostic criteria - major - Megakaryocyte proliferation and atypia, Reticulin and/or collagen fibrosis, not meeting myeloid neoplasms
JAK2V617F or other clonal markers
Minor - 2 of Leukoerythroblastosis/ Increased LDH/ Anemia/ Palpable splenomegaly
pneumococcal vaccine before spleenectomy
min 14 days
zieve syndrome triad
jaundice, hemolytic anemia, and hyperlipidemia.
treatment - supportive care and complete abstinence from alcohol.
burkitt lymphoma
a rare, fast-growing, and aggressive type of non-Hodgkin lymphoma that develops from B-cells, a type of white blood cell, and can affect children and adults.
rapidly enlarging lymph node masses or abdominal tumors, and constitutional symptoms like fever, night sweats, and weight loss
Three main types of Burkitt lymphoma:
Endemic: Primarily occurs in equatorial Africa and is associated with Epstein-Barr virus (EBV) and chronic malaria.
Sporadic: Occurs outside of Africa and is less commonly associated with EBV.
Immunodeficiency-associated: Usually associated with HIV infection or the use of immunosuppressive drugs.
Common regimens include R-CODOX-M/R-IVAC (rituximab, cyclophosphamide, vincristine, doxorubicin, methotrexate, ifosfamide, etoposide, and cytarabine)
felty syndrome
a rare complication of rheumatoid arthritis (RA) characterized by the triad of RA, neutropenia (low neutrophil count), and splenomegaly (enlarged spleen).
