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.
Gross Pathology
Neoplastic infiltration of lymph nodes,
spleen, liver and bone marrow.
Loss of normal bone marrow architecture.
Micro Pathology
Myelophthisic bone marrow (distorted
architecture secondary to a space-occupying
lesion) with lymphoblastic infiltration
Lymphoblasts with inconspicuous nucleoli,
condensed chromatin, scant cytoplam
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
Diagnosis and Discussion
Diagnosis:
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.
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
Gross Pathology
Bone erosion due to marrow expansion
Chloroma formation, mainly in skull
Splenomegaly
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
Labs
Normocytic, normochromic anemia.
Thrombocytopenia
Neutropenia.
Prolonged PT/PTT
Leukocytosis composed mainly of
myeloblasts and promyelocytes
Diagnosis and Discussion
Diagnosis:
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
AML/ALL Common Symptoms
Fever, pallor, weakness, bone pain,
epistaxis, recurrent infections
Thrombocytopenia; neutopenia
Minor hepatosplenomegaly
AML
Gingival lesions
Auer Rods
vs.
ALL
Nontender
lymphadenopathy
Scant cytoplasm
CD10 (CALLA)
positive
TdT positive
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
Imaging
XR, Skull (lateral): maxillary overgrowth
and widening of diploic spaces with “hair
on end” appearance of frontal bone, caused
by vertical trabeculae
Gross Pathology
Expansion of hematopoietic bone marrow
Thinning of cortical bone
Micro Pathology
Red marrow increased
Yellow marrow decreased
Marked erythoid hyperplasia in marrow
Labs
Microcytic hypochromic anemia
Decreased reticulocytosis
Mildly increased unconjugated bilirubin
Anisopoikilocytosis
HbA-absent
HbF-95%
Diagnosis and Discussion
Diagnosis:
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.
Treatment
Blood transfusion, folic acid
supplementation, iron chelation therapy,
bone marrow transplantation
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
Labs
Neutrophilic leukocytosis with lymphopenia
Normocytic anemia
Elevated ESR
Elevated serum Cu and ferritin
Negative Mantoux test
Imaging
CXR: bilateral hilar lymphadenopathy
Gross Pathology
Involved lymph nodes are rubbery
Have “cut-potato” appearance of cut surface
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.
Diagnosis and Discussion
Diagnosis:
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.
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
Gross Pathology
Skull chloromas
Enlarged congested spleen with areas of
thrombosis and microinfarcts
Hepatomegaly
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)
Micro Pathology
Hepatic sinusoidal leukemic infiltrates
Congestive splenomegaly with myeloid
metaplasia
Philadelphia chromosome in all myeloid
progeny
Diagnosis and Discussion
Diagnosis:
Chronic Myelogenous Leukemia (CML)
Discussion:
Death usually results from accelerated
transformation into acute leukemia (blast
crisis) within 2-5 years.
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
Gross Pathology
Lymph node enlargement
Hepatosplenomegaly with tumor nodule
formation
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
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)
Diagnosis and Discussion
Diagnosis:
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.
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
Imaging
CT/US of Abdomen:
small, calcified spleen
Labs
Decreased HCT
Megaloblastic anemia
Serum bilirubin moderately elevated
Howell-Jolly bodies and Cabot rings
Diagnosis
Sickle Cell Anemia
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
Imaging and Labs
Imaging:
XR: No new or old fractures
Labs:
Coagulation profile is normal.
Diagnosis and Discussion
Diagnosis:
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
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.
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
Imaging and Gross Pathology
Imaging:
Punched out lytic bone lesions in vertebrae,
long bones, and skull
Gross Pathology:
Multifocal replacement of normal bone
tissue with tumor cells (plasmacytoma)
Micro Pathology
Infiltration of bone marrow by normallooking plasma cells.
Amyloid deposits in kidney with renal
tubular cast formation and interstitial
fibrosis.
Diagnosis and Discussion
Diagnosis:
Multiple Myeloma
Discussion:
Primary malignancy of plasma cells with
replacement of normal bone marrow; it is
the most common primary bone cancer.