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Patient 1 CC: 5YOWFpresents with fever, marked weakness, pallor, bone pain, and bleeding from her nose HPI: progressively increasing fatigability and.

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Presentation on theme: "Patient 1 CC: 5YOWFpresents with fever, marked weakness, pallor, bone pain, and bleeding from her nose HPI: progressively increasing fatigability and."— Presentation transcript:

1 Patient 1 CC: 5YOWFpresents with fever, marked weakness, pallor, bone pain, and bleeding from her nose HPI: progressively increasing fatigability and infections over the past few months PE: marked pallor; epistaxis; ecchymotic patches over skin; sternal tenderness; slight hepatosplenomegaly with nontender lymphadenopathy; no signs of meningitis; normal funduscopic exam.

2 Gross Pathology Neoplastic infiltration of lymph nodes, spleen, liver and bone marrow. Loss of normal bone marrow architecture.


4 Micro Pathology Myelophthisic bone marrow (distorted architecture secondary to a space-occupying lesion) with lymphoblastic infiltration Lymphoblasts with inconspicuous nucleoli, condensed chromatin, scant cytoplam

5 Labs Normocytic, normochromic anemia
Absolute lymphocytosis with excess blasts (>30%) Negative monospot test for Epstein-Barr virus. Positive terminal deoxytransferase (TdT)(marker for immature T and B lymphocytes) Positive CD10 marker (CALLA-Common Acute Lymphoblastic Leukemia Antigen

6 Diagnosis and Discussion
Acute Lymphocytic Leukemia (ALL) Discussion: ALL is the most common pediatric neoplasm; it accounts for 80% of all childhood leukemias. It carries a good prognosis.

7 Patient 2 CC: 25YOF presents with high grade fever, menorrhagia, and marked weakness HPI: recurrent infections over the last few weeks PE: Marked pallor; multiple purpuric patches over skin; hepatosplenomegaly; gingival hyperplasia; sternal tenderness; normal funduscopic and neurologic exam

8 Gross Pathology Bone erosion due to marrow expansion
Chloroma formation, mainly in skull Splenomegaly


10 Micro Pathology Auer Rods (basophilic cytoplasmic bodies) in myelocytes Peroxidase positive stains on bone marrow and gingival biopsy Myeloblasts with myelomonocytic differentiation replace normal marrow

11 Labs Normocytic, normochromic anemia. Thrombocytopenia Neutropenia.
Prolonged PT/PTT Leukocytosis composed mainly of myeloblasts and promyelocytes

12 Diagnosis and Discussion
Acute Myelogenous Leukemia (AML) Discussion: Not as common as ALL. Increased risk associated with ionizing radiation, benzene exposure, Down’s syndrome, and cytotoxic chemotherapeutic agents

13 AML/ALL Common Symptoms
Fever, pallor, weakness, bone pain, epistaxis, recurrent infections Thrombocytopenia; neutopenia Minor hepatosplenomegaly

14 AML vs. ALL Gingival lesions Auer Rods Nontender lymphadenopathy
Scant cytoplasm CD10 (CALLA) positive TdT positive

15 Patient 3 11Month Old M of Indian descent
CC: Presents with marked pallor, failure to thrive, and delayed developmental motor milestones. PE: Marked pallor, mild icterus; frontal bossing and maxillary hypertrophy “chipmunk face;” splenomegaly

16 Imaging XR, Skull (lateral): maxillary overgrowth and widening of diploic spaces with “hair on end” appearance of frontal bone, caused by vertical trabeculae

17 Gross Pathology Expansion of hematopoietic bone marrow
Thinning of cortical bone


19 Micro Pathology Red marrow increased Yellow marrow decreased
Marked erythoid hyperplasia in marrow

20 Labs Microcytic hypochromic anemia Decreased reticulocytosis
Mildly increased unconjugated bilirubin Anisopoikilocytosis HbA-absent HbF-95%

21 Diagnosis and Discussion
Beta Thalassemia Discussion: Beta-Thalassemia results from decreased synthesis of beta-globulin chains due to errors in transcription, splicing or translation of mRNA. Alpha-Thalassemia results from decreased synthesis of alpha-globulin chain due to deletion of one or more of the four alpa genes normally present.

22 Treatment Blood transfusion, folic acid supplementation, iron chelation therapy, bone marrow transplantation

23 Patient 4 24YOWM CC: Rapid enlargement of his abdomen, producing a dragging sensation, along with a painless lump in his neck for the past two months HPI: Intermittent fever, drenching night sweats, pruritus, and significant weight loss PE: Pallor; unilateral nontender, rubbery, enlarged cervical lymph nodes; splenomegaly; no enlargement of tonsils

24 Labs Neutrophilic leukocytosis with lymphopenia Normocytic anemia
Elevated ESR Elevated serum Cu and ferritin Negative Mantoux test

25 Imaging CXR: bilateral hilar lymphadenopathy

26 Gross Pathology Involved lymph nodes are rubbery
Have “cut-potato” appearance of cut surface


28 Micro Pathology Lymph node biopsy shows large histiocyte cells with multilobed nuclei and eosinophilic nucleolus resembling owl’s eyes (Reed-Sternberg Cells) No bone marrow involvement.

29 Diagnosis and Discussion
Hodgkin’s Lymphoma Discussion: Four patterns seen on biopsy. Common symptoms are the fever, night sweats, and weight loss. The disease spreads to contiguous lymph nodes before moving into the blood.

30 Patient 5 40YOWM CC: Life insurance physical exam
HPI: No complaints except occasional fatigue and increasing abdominal girth. PE: Pallor of skin and mucus membranes; markedly enlarged spleen; pain on palpation of sternum; no lymphadenopathy

31 Gross Pathology Skull chloromas
Enlarged congested spleen with areas of thrombosis and microinfarcts Hepatomegaly



34 Labs Markedly elevated WBC count (130,000)
Immature granulocytes mixed with normal appearing ones Basophilia, eosinophilia, early thrombocytosis, late thrombocytopenia Low leukocyte alkaline phosphatase Elevated serum vitamin B12 Chromosomal translocation t(9;22)/bcr-abl gene (Philadelphia Chromosome)

35 Micro Pathology Hepatic sinusoidal leukemic infiltrates
Congestive splenomegaly with myeloid metaplasia Philadelphia chromosome in all myeloid progeny

36 Diagnosis and Discussion
Chronic Myelogenous Leukemia (CML) Discussion: Death usually results from accelerated transformation into acute leukemia (blast crisis) within 2-5 years.

37 Patient 6 65YOWM CC: Routine checkup
HPI: On directed history, he admits to a weight loss of about 12lbs over the past 4 mos, together with episodes of epistaxis and extreme fatigue PE: Generalized nontender lymphadenopathy; pallor; enlargement of spleen and liver

38 Gross Pathology Lymph node enlargement
Hepatosplenomegaly with tumor nodule formation


40 Micro Pathology Bone marrow biopsy reveals extensive infiltration, normal-looking lymphocytes and a few lymphoblasts Blood smear shows many lymphocytes with small, dark, round nucleus and scant cytoplasm

41 Labs Markedly elevated WBC (124,000) 90% Lymphocytes No lymphoblasts
Mild thrombocytopenia Cooms-positive hemolytic anemia Smudge cells B-cells express CD5 (normally a T-cell marker)

42 Diagnosis and Discussion
Chronic Lymphocytic Leukemia (CLL) Discussion: CLL is a malignant neoplastic disease of B Lymphocytes that express surface marker CD5. Characterized by slow progression of anemia, hemolytic anemia, recurrent infections, lymph node enlargement, and bleeding episodes.

43 Patient 7 10YOBM CC: Chronic nonhealing ulcer on lower leg
HPI: Recurrent episodes of abdominal and chest pain along with diminution of vision. PE: Fever; pallor; mild icterus; funduscopy shows hypoxic spots with neovascularization; nonhealing chronic ulcer on left lower leg

44 Imaging CT/US of Abdomen: small, calcified spleen



47 Labs Decreased HCT Megaloblastic anemia
Serum bilirubin moderately elevated Howell-Jolly bodies and Cabot rings

48 Diagnosis Sickle Cell Anemia

49 Patient Next 10 Month old Female
CC: Mother claims the child is “a retard.” She cannot see properly, and falls repeatedly. PE: No lacerations of fractures noted; normal physical development for size and weight; bruises in different stages of healing; bilateral retinal hemorrhages

50 Imaging and Labs Imaging: XR: No new or old fractures Labs:
Coagulation profile is normal.

51 Diagnosis and Discussion
Shaken Baby Syndrome---Abuse Discussion: Vigorous shaking can produce vitreous and retinal hemorrhages that may be the only verifiable sign of child abuse. We are required by law to report any suspicion of child abuse or neglect to state protection agencies

52 Patient Last 64YOBM CC: Bone pain, weight loss, easy fatigability
HPI: Recurrent URIs and frequent nose bleeds PE: Pallor; bone tenderness in lower back and ribs; petechiae on buccal mucosa; no hepatosplenomegaly.

53 Labs Normocytic, normochromic anemia Neutropenia Rouleau formation
Elevated Serum Ca++ Normal alkaline phosphatase Increased ESR Gamma spike on serum protein electrophoresis UA: Bence Jones Proteinuria




57 Imaging and Gross Pathology
Punched out lytic bone lesions in vertebrae, long bones, and skull Gross Pathology: Multifocal replacement of normal bone tissue with tumor cells (plasmacytoma)

58 Micro Pathology Infiltration of bone marrow by normal-looking plasma cells. Amyloid deposits in kidney with renal tubular cast formation and interstitial fibrosis.

59 Diagnosis and Discussion
Multiple Myeloma Discussion: Primary malignancy of plasma cells with replacement of normal bone marrow; it is the most common primary bone cancer.

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