Transcript Case Study 92 - University of Pittsburgh

15-year-old boy presenting with back pain
and skull lesion
Lananh Nguyen, M.D.
Division of Neuropathology
University of Pittsburgh Medical Center
Clinical history
• Patient complained of back pain. An MRI was done (not
shown) which showed multiple osseous lesions in the spine
and pelvis. A biopsy of the pelvis was called chronic
osteomyelitis.
• On physical exam, a nontender growing skull lesion was
seen.
• And, imaging was performed.
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Radiology: Identify the lesion and name the 3 imaging
modalities used below.
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Radiology: Imaging of the skull lesion. Identify the lesion
and name the 3 imaging modalities used below.
T1
4
T2
T1 with contrast
A biopsy was performed and an intraoperative consultation
was requested.
• Click on the hyperlink below to view the virtual slide
– Intraoperative smear
• What do you see on the smear?
5
A biopsy was performed and an intraoperative consultation
was requested. What do you see on the smear?
Low power
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A biopsy was performed and an intraoperative consultation
was requested. What do you see on the smear?
Low power
Numerous
macrophages
Giant cells
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This is the same smear at higher power. What do you see?
High power
8
This is the same smear at higher power. What do you see?
High power
Nuclear
groove
Nuclear
indentation
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This is what the H&E permanent slides look like.
• Click on the hyperlink below to view the virtual slide
– Permanent H&E slide
• What do you see on the slide?
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This is what the H&E permanent slides look like.
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What is your diagnosis?
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We’re not telling the diagnosis yet.
What immunohistochemical stains would you like to do?
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What immunohistochemical stains would you like to do?
• These were ordered
–
–
–
–
–
S100
CD68 PGM
CD1a
Langerin
CD163
• What is in the differential based on this panel?
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Fill in the panel by denoting “+” or “–”
Immunostain
S100
CD68 PGM
CD1a
Langerin
CD163
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Langerhan Cell
Histiocytosis
Juvenile
Xanthogranuloma
Reactive
histiocytes
Fill in the panel by denoting “+” or “-” .
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Immunostain
Langerhan Cell
Histiocytosis
Juvenile
Xanthogranuloma
Reactive
histiocytes
S100
+
-
+/-
CD68 PGM
-
+
+
CD1a
+
-
-
Langerin
+
-
-
CD163
-
+
+
Immunohistochemical stains
CD1a
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Langerin
What do you see on the stains?
• CD1a: majority of cells, including cells with nuclear grooves
and nuclear indentations (LC-Langerhans cell) show strong
membranous staining
• Langerin: there is strong staining in cells which are also
CD1a+
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Immunohistochemical stains
S100
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CD68 PGM
CD163
What do you see on the stains?
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What do you see on the stains?
• CD1a: majority of cells, including cells with nuclear grooves
and nuclear indentations (LC-Langerhans cell) show strong
membranous staining
• Langerin: there is strong staining in cells which are also
CD1a+
• S100: positive blush in cells
• CD68: majority of cells, including LC, are negative in with a
background of positive cells
• CD163: majority of cells, including LC, are negative in with a
background of positive cells
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What is your final diagnosis?
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What is your final diagnosis?
• Final diagnosis: Langerhans cell histiocytosis
– Given the clinical presentation
– Given the histologic morphology of nuclear grooves and nuclear
indentations specific to Langerhan cells
– Given the CD1a and Langerin positive immunophenotype for
Langerhan cells
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Discussion: Histocytic developmental pathway
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Adapted from Weitzman and
Jaffe, 2005
Algorithm for histocytic lesion in bone for
neuropathologists
Histiocytic lesion in
skull
CD1a+/Langerin+
Langerhans cell
histiocytosis
HX: skin rash or painful bone lesion. Systemic sx of
fever, weight loss, diarrhea, edema, dyspnea,
polydipsia, and polyuria
H&E: nuclear groove, nuclear indentation
CD1a+ : many cells, if clustered then suspicious
Langerin+: staining in same cells. Normal BM: rare
to none
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CD1a-/Langerin-
Malignancies with
histiocytic
morphology
Juvenile
xanthogranuloma
family
Rosai Dorfmann
Macrophages
Lymphoma
Juvenile
xanthogranuloma
Reactive
macrophages
Leukemia
Erdheim-Chester
Hemophagocytic
disorders
Sarcoma