Leukemias: Pathology review

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Leukemias: Pathology review

Hematological system

Anemias

Iron deficiency anemia

Beta-thalassemia

Alpha-thalassemia

Sideroblastic anemia

Anemia of chronic disease

Lead poisoning

Hemolytic disease of the newborn

Glucose-6-phosphate dehydrogenase (G6PD) deficiency

Autoimmune hemolytic anemia

Pyruvate kinase deficiency

Paroxysmal nocturnal hemoglobinuria

Sickle cell disease (NORD)

Hereditary spherocytosis

Anemia of chronic disease

Aplastic anemia

Fanconi anemia

Megaloblastic anemia

Folate (Vitamin B9) deficiency

Vitamin B12 deficiency

Fanconi anemia

Diamond-Blackfan anemia

Heme synthesis disorders

Acute intermittent porphyria

Porphyria cutanea tarda

Lead poisoning

Coagulation disorders

Hemophilia

Vitamin K deficiency

Platelet disorders

Bernard-Soulier syndrome

Glanzmann's thrombasthenia

Hemolytic-uremic syndrome

Immune thrombocytopenic purpura

Thrombotic thrombocytopenic purpura

Mixed platelet and coagulation disorders

Von Willebrand disease

Disseminated intravascular coagulation

Heparin-induced thrombocytopenia

Thrombosis syndromes (hypercoagulability)

Antithrombin III deficiency

Factor V Leiden

Protein C deficiency

Protein S deficiency

Antiphospholipid syndrome

Lymphomas

Hodgkin lymphoma

Non-Hodgkin lymphoma

Leukemias

Chronic leukemia

Acute leukemia

Leukemoid reaction

Leukemoid reaction

Dysplastic and proliferative disorders

Myelodysplastic syndromes

Polycythemia vera (NORD)

Myelofibrosis (NORD)

Essential thrombocythemia (NORD)

Langerhans cell histiocytosis

Mastocytosis (NORD)

Plasma cell dyscrasias

Multiple myeloma

Monoclonal gammopathy of undetermined significance

Waldenstrom macroglobulinemia

Hematological system pathology review

Microcytic anemia: Pathology review

Non-hemolytic normocytic anemia: Pathology review

Intrinsic hemolytic normocytic anemia: Pathology review

Extrinsic hemolytic normocytic anemia: Pathology review

Macrocytic anemia: Pathology review

Heme synthesis disorders: Pathology review

Coagulation disorders: Pathology review

Platelet disorders: Pathology review

Mixed platelet and coagulation disorders: Pathology review

Thrombosis syndromes (hypercoagulability): Pathology review

Lymphomas: Pathology review

Leukemias: Pathology review

Plasma cell disorders: Pathology review

Myeloproliferative disorders: Pathology review

Assessments

Leukemias: Pathology review

USMLE® Step 1 questions

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Questions

USMLE® Step 1 style questions USMLE

of complete

A 60-year-old man comes to the office because of progressive weakness and a dragging sensation in the abdomen for the past 3 months. The patient is a retired farmer. Past medical history is noncontributory. He does not smoke or use illicit drugs. Temperature is 37.0°C (98.6°F), pulse is 96/min, respirations are 20/min, and blood pressure is 125/80 mmHg. Physical examination shows mucosal pallor, petechiae on the lower extremities, and splenomegaly crossing the midline. Laboratory results are as follows:  
 
 Laboratory value  Result 
 Complete blood count 
 Hemoglobin   9.3 g/dL 
 Platelets   70,000/mm3 
 Leukocytes   6,000/mm3 
Peripheral blood smear is shown:


Reproduced from:Wikimedia Commons 

Which of the following genes is most likely to be mutated in this patient?  

Transcript

Content Reviewers

Yifan Xiao, MD

Contributors

Zachary Kevorkian, MSMI

Maria Emfietzoglou, MD

Alex Aranda

Tanner Marshall, MS

A 65-year old male, named Mike is admitted to the hospital for a lower respiratory tract infection.

He complains of easy bruising for the past months, and a few hours after admission, he rapidly deteriorates and starts to bleed from venipuncture sites.

Lab tests show low platelet count, and bleeding time, PT and PTT are prolonged.

Fibrinogen is decreased and d-dimers are elevated.

Peripheral blood smear shows schistocytes. Bone marrow biopsy shows more than 30% blast cells with Auer rods in the cytoplasm.

Next, there’s a mother with her 5-year old son, Luke.

Luke’s mother has noticed that he’s been less active and had recurrent upper respiratory tract infections in the past few months.

Clinical examination reveals diffuse lymphadenopathy. CBC shows anemia and leukopenia, while bone marrow biopsy shows more than 30% blast cells.

The last person is a 40-year old female, named Mia, who complains of recurrent upper respiratory tract infection, progressive fatigue, and abdominal fullness.

Clinical examination revealed severe splenomegaly. CBC shows anemia, increased WBCs, while blood smear shows increased granulocytes and immature forms of myeloid cells.

The lap score is low. Bone marrow biopsy shows blast count of 8%.

Okay, so all three people have leukemia.

Leukemias can occur when there’s uncontrolled proliferation of immature white blood cells.

The most immature type of cells are called blast cells, but sometimes cells near maturity that resemble normal white blood cells can also be affected.

Whatever the stage, these abnormal cells accumulate in the bone marrow or blood.

This differentiates them from lymphomas which can also arise from white blood cells, but they typically form solid tumors in lymphatic tissue such as lymph nodes, thymus, or spleen.

Leukemias are most commonly caused by genetic mutations.

These mutations can be chromosomal deletions, where part of a chromosome is missing; trisomies, where there’s one extra chromosome; and translocations, where two chromosomes break and swap parts with one another.

Regardless of the type of mutation, these abnormal cells can lead to a decreased levels of functional white blood cells, which weakens the immune system and results in increased susceptibility to infections.

Sources

  1. "Robbins Basic Pathology" Elsevier (2017)
  2. "Harrison's Principles of Internal Medicine, Twentieth Edition (Vol.1 & Vol.2)" McGraw-Hill Education / Medical (2018)
  3. "Patterns of leukemia incidence in the United States by subtype and demographic characteristics, 1997–2002" Cancer Causes & Control (2007)
  4. "Cognitive impairment, fatigue, and cytokine levels in patients with acute myelogenous leukemia or myelodysplastic syndrome" Cancer (2005)
  5. "The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia" Blood (2016)
  6. "Childhood and adolescent cancer statistics, 2014" CA: A Cancer Journal for Clinicians (2014)
  7. "Differentiation and apoptosis induction therapy in acute promyelocytic leukaemia" The Lancet Oncology (2000)
  8. "The peripheral blood in chronic granulocytic leukaemia. Study of 50 untreated Philadelphia-positive cases." Spiers AS, Bain BJ, Turner JE (1977)
  9. "iwCLL guidelines for diagnosis, indications for treatment, response assessment, and supportive management of CLL" Blood (2018)
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