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Heme Path Exam 1 > Neoplastic Myeloid Disorders > Flashcards

Neoplastic Myeloid Disorders Flashcards

1
Q

Myeloid neoplasms

A

arise from hematopoietic stem cells that give rise to cells of myeloid (i.e., erythroid, granulocytic, and/or thrombocytic) lineage

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2
Q

Three Categories Myeloid Neoplasia

A

Acute Myelogenous Leukemias

Myelodysplastic Syndromes

Chronic MyeloproliferativeDisorders

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3
Q

Acute Myelogenous Leukemias

A

> 20% immature progenitor cells accumulate in the bone marrow

•Myeloid (Granulocytic) sarcoma –soft tissue mass of these cells

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4
Q

Myelodysplastic Syndromes

A

Associated with ineffective hematopoiesis and resultant peripheral blood cytopenias

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5
Q

Chronic MyeloproliferativeDisorders,

A

in which increased production of one or more terminally differentiated myeloid elements (e.g., granulocytes) usually leads to elevated peripheral blood counts

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6
Q

Acute myeloid neoplasms

A

immature/blasts

live months

kids and adults

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7
Q

Chronic myeloid neoplasms

A

maturation present

live years

adults

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8
Q

Molecular Pathogenesis of Acute Myeloid Leukemias

Class I mutations

A 
FLT3-ITD
FLT3-TKD
KIT
RAS
PTPN11
JAK2

proliferation and/or survival advantage; not affecting differentiation

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9
Q

Molecular Pathogenesis of Acute Myeloid Leukemias

class II mutations

A 
PML-RARA
RUNX1-RUNX1T1
CBFB-MYH11
MLL FUSIONS
CEBPA
NMP1?

impaired haemotopoietic differentiation and subsequent apoptosis

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10
Q

AML with t(8;21)(q22;q22);
RUNX1/ETOfusion gene*

Prognosis
FABSubtype
Morphology/Comments

A

Favorable

M2

Full range of myelocyticmaturation; Auer rods easily found; abnormal cytoplasmic granules

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11
Q

AML with inv(16) (p13;q22);
CBFβ/MYH11 fusion gene*

Prognosis
FABSubtype
Morphology/Comments

A

Favorable

M4eo

Myelocyticand monocyticdifferentiation; abnormal eosinophilic precursors in marrow with abnormal basophilic granules

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12
Q

AML with t(15;17)(q22;11-12);
RARα/PMLfusion gene

Prognosis
FABSubtype
Morphology/Comments

A

Intermediate

M3, M3v

Numerous Auer rods, often in bundles within individual progranulocytes; primary granules usually very prominent (M3), but inconspicuous in microgranularvariant (M3v);
high incidence of DIC

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13
Q

AML with t(11q23;v); diverseMLLfusion genes

Prognosis
FABSubtype
Morphology/Comments

A

Poor

M4, M5

Usually some degree of monocytic differentiation

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14
Q

AML with normal cytogenetics and mutatedNPM

Prognosis
FABSubtype
Morphology/Comments

A

Favorable

Variable

Detected by immunohistochemicalstaining for NPM

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15
Q

With prior MDS

Prognosis
FAB Subtype
Morphology/Comments

A

Poor
Variable
Diagnosis based on clinical history

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16
Q

AML with multilineage dysplasia

Prognosis
FAB Subtype
Morphology/Comments

A

Poor
Variable
Maturing cells with dysplastic features typical of MDS

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17
Q

AML with MDS-like cytogenetic aberrations

Prognosis
FAB Subtype
Morphology/Comments

A

Poor
Variable
Associated with 5q-, 7q-, 20q-aberrations

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18
Q

AML,THERAPY-RELATED

Prognosis
FAB Subtype
Morphology/Comments

A

Very poor
Variable
If following alkylatortherapy or radiation therapy, 2-to 8-year latency period, MDS-like cytogenetic aberrations (e.g., 5q-, 7q-); if following topoisomeraseII inhibitor (e.g., etoposide) therapy, 1-to 3-yea

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19
Q

AML, minimally differentiated

Prognosis
FAB Subtype
Morphology/Comments

A

Intermediate
M0
Negative for myeloperoxidase; myeloid antigens detected on blasts by flow cytometry

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20
Q

AML without maturation

Prognosis
FAB Subtype
Morphology/Comments

A

Intermediate
M1
>3% of blasts positive for myeloperoxidase

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21
Q

AML with myelocyticmaturation

Prognosis
FAB Subtype
Morphology/Comments

A

ve for myeloperoxidase

AML with myelocyticmaturation

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22
Q

AML with myelomonocyticmaturation

Prognosis
FAB Subtype
Morphology/Comments

A

Intermediate
M4
Myelocyticand monocytic differentiation

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23
Q

AML with monocyticmaturation

Prognosis
FAB Subtype
Morphology/Comments

A

Intermediate
M5a, M5b
In M5a nonspecific esterase-positive monoblastsand pro-monocytes predominate in marrow and blood; in M5b mature monocytes predominate in the blood

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24
Q

AML with erythroidmaturation

Prognosis
FAB Subtype
Morphology/Comments

A

Intermediate
M6a, M6b
Erythroid/myeloid subtype (M6a) defined by >50% dysplastic maturing erythroid precursors and >20% myeloblasts; pure erythroid subtype (M6b) defined by >80% erythroid precursors without myeloblasts

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25
Q

AML with megakaryocytic maturation

Prognosis
FAB Subtype
Morphology/Comments

A

Intermediate
M7
Blasts of megakaryocytic lineage predominate; detected with antibodies against megakaryocyte-specific markers (GPIIb/IIIaor vWF); often associated with marrow fibrosis; most common AML in Down syndrome

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26
Q

Age of Initial Diagnosis

Acute Myelogenous Leukemia

A

67

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27
Q

Age of Initial Diagnosis

Acute Lymphoblastic Leukemia

A

14

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28
Q

AML in marrow

slide

A

Almost exclusively leukemic cells

Hematopoiesis reduced via replacement (myelophthisic) or stem cell supression

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29
Q

Acute myeloid leukemia without maturation (FAB M1 subtype

slide

A

Myeloblastshave delicate nuclear chromatin, prominent nucleoli, and fine azurophilic granules in the cytoplasm.

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30
Q

In the flow cytometric analysis shownthe myeloid blasts

A

express CD34, a marker of multipotent stem cells, but do not express CD64, a marker of mature myeloid cells

The same myeloid blasts express CD33, a marker of immature myeloid cells, and a subset express CD15, a marker of more mature myeloid cells. Thus, these blasts are myeloid cells showing limited maturation

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31
Q

Acute promyelocyticleukemia with the t(15;17) (FAB M3 subtype

slide

A

Bone marrow aspirate shows neoplastic promyelocyteswith abnormally coarse and numerous azurophilicgranules. Other characteristic findings include the presence of several cells with bilobednuclei and a cell in the center of the field that contains multiple needle-like Auer rods.

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32
Q

Acute myeloid leukemia with monocytic differentiation (FAB M5b subtype).

slide

A

Peripheral smear shows one monoblastand five promonocyteswith folded nuclear membranes

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33
Q

Acute Myelogenous Leukemia Clinical Course

A
  • Presents with same acute onset and symptoms as ALL (anemia, infection, fever, bone pain, and bleeding)
  • DIC occurs in AML with t(15;17)(q22;11-12);RARα/PMLfusion gene
  • Neoplastic cells with monocytic differentiation infiltrate skin
  • Variable blast count 100,000/mm3
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34
Q

Acute Myelogenous Leukemia Clinical prognosis

A
  • Much poorer overall prognosis than ALL
  • 60% can achieve one complete remission, but only 15-30% remain disease free after 5 years.
  • Survival dependent specific subtype and cytogenetic findings
  • Pre-existing MyelodysplasticSyndrome (MDS) confers “Dismal Prognosis”
  • Increased incidence in Down Syndrome
    • Myeloid Leukemia is usually Acute MegakaryoblasticLeukemia
    • Not as common as Acute Lymphoblastic Leukemia in Down Syndrome
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35
Q

Acute Myelogenous Leukemia Physical Findings

A
  • Splenomegaly
  • Hepatomegaly
  • Gum swelling or skin nodules
  • Sternal tenderness
  • Petechiae
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36
Q

AML Incidence

A

median age at diagnosis 67

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37
Q

AML Mortality

A

MEDIAN AGE AT DEATH 72

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38
Q 
2008 WHO Classification
Myelodysplastic syndrome (MDS)
A
  • Refractory cytopeniawith unilineagedysplasia
    • Refractory anemia
    • Refractory neutropenia
    • Refractory thrombocytopenia
  • Refractory anemia with ring sideroblasts
  • Refractory cytopeniawith multilineagedysplasia
  • Refractory anemia with excess blasts
  • Myelodysplastic syndrome with isolated del(5q)
  • Myelodysplastic syndrome, unclassifiable
  • Childhood myelodysplastic syndrome
  • Provisional entity: refractory cytopeniaof childhood
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39
Q

Myelodysplasia slides

A

A, Nucleated red cell progenitors with multilobatedor multiple nuclei.
B, Ringed sideroblasts, with iron-laden mitochondria (blue granules)
C, Pseudo-Pelger-Hüetcells, neutrophils with two nuclear lobes instead of three to four
D, Megakaryocytes with multiple separate nuclei

40
Q

Refractory cytopenia with unilineage dysplasia
Refractory anemia
Refractory neutropenia
Refractory thrombocytopenia

Blood (/μL(1 ×109/L)
BoneMarrow

A

Cytopenia

Blasts (

41
Q

Refractory anemia with ring sideroblasts

Blood (/μL(1 ×109/L)
BoneMarrow

A

Anemia
No blasts
Monocytes≤1,000/μL

Erythroid dysplasia only

42
Q

Refractory cytopenia with multilineage dysplasia

Blood (/μL(1 ×109/L)
BoneMarrow

A

Cytopenia(s)

Blasts (10% of the cells of ≥2 myeloid lineages

43
Q

Refractory anemia with excess blasts
RAEB 1

Blood (/μL(1 ×109/L)
BoneMarrow

A
44
Q

Refractory anemia with excess blasts
RAEB 2

Blood (/μL(1 ×109/L)
BoneMarrow

A

5-19% blasts
+/-Auer rods

10%-19% blasts
+/-Auer rods

45
Q

Myelodysplastic syndrome with isolated del(5q)
del (5q) is sole cytogenetic abnormality

Blood (/μL(1 ×109/L)
BoneMarrow

A

Anemia

↔or ↑platelets

46
Q

Refractory anemia with excess blasts

Blood (/μL(1 ×109/L)
BoneMarrow

A

Cytopenia(s)
Monocytes≤1,000

Unilineage or multilineage dysplasia

47
Q

Myelodysplastic Syndromes (MDS)Clinical Course

A

Affects individuals older than 50 years (mean age of onset 70 years)

Presents with weakness, infection and hemorrhage caused by bone marrow failure and peripheral pancytopenia

~ 50% discovered incidentally during routine blood testing for another reason
Anemia that may be accompanied by monocytosis

48
Q

Myelodysplastic Syndromes (MDS)Clinical note

A
  • If it looks like myelodysplasia and has >1000 monocytes/uLin the blood than the patient has chronic myelomonocyticleukemia
  • If it looks like myelodysplasia or a myeloproliferative syndrome and there is more than 20% blasts in the bone marrow or blood than it is acute myeloid leukemia
49
Q

Myelodysplastic Syndromes (MDS) Prognosis

A

Some good prognostic groups may live 5 years or more

Median survival in primary MDS varies from 9-29 months

t-MDS prognosis is 4-8 months

MDS is serious disease in its own right without progression to AML

Overall progression to AML occurs in 10-40% and in these patients the prognosis is “dismal”…..6 months or less

50
Q

Chronic Myeloproliferative Disorders

A
  • Multipotent progenitor cell capable of giving rise to mature erythrocytes, platelets, granulocytes (except CML)
  • In chronic myelogenousleukemia (CML) pluripotent stem cell gives rise to myeloid cells and lymphocytes
  • The neoplastic cells displace normal bone marrow and suppress normal hematopoiesis
  • The terminal differentiation of the neoplastic clone is unaffectedand mature end-stage cells are increased in the peripheral blood in markedly increased numbers
  • Associated with an abnormal increase in the activity of mutated tyrosine kinases with growth factor independent proliferation and survival
51
Q

Chronic myelogenous leukemia

Mutation
Frequency1
Consequences2

A

BCR-ABLfusion gene
100%
Constitutive ABL kinase activation

52
Q

Polycythemia vera

Mutation
Frequency1
Consequences2

A

JAK2point mutations
>95%
Constitutive JAK2kinase activation

53
Q

Essential thrombocythemia

Mutation
Frequency1
Consequences2

A

JAK2point muations
50% to 60%
Constitutive JAK2kinase activation

54
Q

Primary myelofibrosis

Mutation
Frequency1
Consequences2

A

MPLpoint mutations
5% to 10%
Constitutive MPLkinase activation

55
Q

Systemic mastocytosis

Mutation
Frequency1
Consequences2

A

c-KITpoint mutations
>90%
Constitutive KIT kinase activation

56
Q

Chronic eosinophilic leukemia

Mutation
Frequency1
Consequences2

A

FIP1L1-PDGFRαfusion gene
Common
Constitutive PDGFRα kinase activationConstitutive

PDE4DIP-PDGFRβfusion gene
Rare
Constitutive PDGFRβ kinase activation

57
Q

Stem cell leukemia

Mutation
Frequency1
Consequences2

A

VariousFGFR1fusion genes
100%
Constitutive FGFR1 kinase activation

58
Q

Tyrosine Kinase Mutations in Myeloproliferative Disorders

A

Chronic myelogenousleukemia

Polycythemia vera

Essential thrombocythemia

Primary myelofibrosis

Systemic mastocytosis

Chronic eosinophilic leukemia4

Stem cell leukemia5

59
Q 
2008 WHO Classification
Myeloproliferative neoplasms (MPN)
A
  • Chronic myelogenousleukemia, BCR-ABL1–positive
  • Chronic neutrophilic leukemia
  • Polycythemia vera
  • Primary myelofibrosis
  • Essential thrombocythemia
  • Chronic eosinophilic leukemia, not otherwise specified
  • Mastocytosis
  • Myeloproliferativeneoplasms, unclassifiable
60
Q

2008 WHO Classification

Myeloid and lymphoid neoplasms associated with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1

A
  • Myeloid and lymphoid neoplasms associated with PDGFRArearrangement
  • Myeloid neoplasms associated with PDGFRBrearrangement
  • Myeloid and lymphoid neoplasms associated with FGFR1abnormalities
61
Q

2008 WHO Classification

Myelodysplastic/myeloproliferative neoplasms (MDS/MPN)

A
  • Chronic myelomonocyticleukemia
  • Atypical chronic myeloid leukemia, BCR-ABL1–negative
  • Juvenile myelomonocyticleukemia
  • Myelodysplastic/myeloproliferativeneoplasm, unclassifiable
  • Provisional entity: refractory anemia with ring sideroblastsand thrombocytosis
62
Q

Chronic Myeloproliferative Disorders

Chronic Myelogenous Leukemia

genes

A

CML is distinguished from other chronic MPDs by the presence of a chimeric BCR-ABL gene derived from portions of the BCR gene on chromosome 22 and the ABLgene on chromosome 9 ….in more than 90% of cases … (9;22)(q34;q11) .. Philadelphia Chromosome(Ph)

t(9;22) is also seen in some ALL and AML patients

63
Q

Chronic Myeloproliferative Disorders

Chronic Myelogenous Leukemia

overview

A

•100% cellular marrow (no fat)
•Increased precursors of all cell lines, including megakaryocytes
•Peripheral marked leukocytosis 50,000 or even 100,000 total granulocyte count with PMNs, bands, metamyelocytes, myelocytes, +/-basophilia,
but

64
Q

Chronic myeloid leukemia.

Peripheral blood smear shows

A

many mature neutrophils, some metamyelocytes, and a myelocyte

65
Q

Molecular pathogenesis of chronic myeloid leukemia.

A

Breakage and joining of BCR and ABL creates a chimeric BCR-ABL fusion gene that encodes a constitutively active BCR-ABL tyrosine kinase. BCR-ABL activates multiple downstream pathways, which drive growth factor-independent proliferation and survival of bone marrow progenitors. Because BCR-ABL does not interfere with differentiation, the net result is an increase in mature elements in the peripheral blood, particularly granulocytes and platelets.

66
Q

CML characteristically ( 90% of time) has Philadelphia chromosome (Ph1).

A

This translocation involves transfer of portion of q arm, C22, to q arm, C9, and is designated t(9:22). This translocation brings c-ablproto-oncogene on chromosome 9 in proximity with bcr(breakpoint cluster) gene on chromosome 22.

67
Q

Fish

A

Useful adjunct to routine cytogenetics

heat to relax dna,seperate strands

add fluorescently tagged dna probe

cool to allow annealing of probe and target

68
Q

Detection of a BCR-ABLfusion gene by fluorescence in situ hybridization

A

Because of the pairing of sister chromatids during mitosis, signals on metaphase chromosomes may be seen as a single dot or a pair of closely spaced dots. Two pairs of red signals and two green signals are seen on metaphase, while 2 red and 2green signals are present in interphase nucleus, indicating the presence of normal, spatially distant copies of ABLand BCR, respectively.With CML show one normal ABLsignal, one normal BCRsignal, and an abnormal yellow signal created by superimposition of one BCRand one ABLsign

69
Q

Chronic Myeloproliferative Disorders Chronic MyelogenousLeukemia

A

•Natural history is one of slow progression with moderate anemia and hypermetabolism(high cell turnover)
•Major symptoms are weakness, easy fatigability and weight loss……..markedly enlarged spleen is a constant finding
•Massive splenomegaly may lead to splenic infarcts
•3 years median survival without treatment
•50% of patients enter an “accelerated” phase (worse anemia and thrombocytopenia) then enter after 6 to 12 months a “blast crisis”—-development of acute leukemia
•Other 50% eventually develop “blast crisis” without accelerated phase
•70% develop myeloid leukemia and 30% pre-B leukemia
Rx-Gleevac/imatinib(BCR-ABL kinase inhibitor)

70
Q

Chronic myeloid leukemia (spleen).

gross

A

Enlarged spleen (2630 gm; normal: 150 to 200 gm) with greatly expanded red pulp stemming from neoplastic hematopoiesis

71
Q

Chronic Myelogenous Leukemia

incidence

A

median age at diagnosis

72
Q

Chronic Myelogenous Leukemia

mortality

A

median age at death 76

73
Q

Chronic Myeloproliferative Disorders Polycythemia Vera (PV)

overview of disease

A
  • True polycythemia with panmyelosis(erythrocytosis, granulocytosis and thrombocytosis) +/-basophilia
    • Peripheral blood hematocrit around 60%
      • increases in red cell mass produces symptoms related to hyperviscositysyndromes with thromboses and infarcts
  • Bone marrow-all precursors increased
  • Progenitor erythroblasts in PV are hypersensitive to erythropoietin (usually due to JAK2 V617F mutation) and serum erythropoietin levels are suppressed
  • JAK2 mutation occurs in >95% of patients
74
Q

Chronic Myeloproliferative Disorders Polycythemia Vera (PV)

clinical

A

Median age onset 60 years

Plethoric and cyanotic

Abnormal viscosity and perhaps increased, but abnormal platelets leads to increased major bleeding and thrombosis

Patients develop massive splenomegaly

Pruritis and peptic ulcers due to released histamine from increased basophils

5-10% develop gout (hyperuricemia from nuclei breakdown)

75
Q

Chronic Myeloproliferative Disorders Polycythemia Vera (PV)

treatment and prognosis

A

Hemoglobin usually 14-28 gm/dLand Hct> 60%
WBC 12,000 -50 ,000 /mm3
Platelets >500,000/mm3common

Treat with phlebotomy to control symptoms and avoid bleeding/thrombosis complications

Untreated survival is months

With extended survival by treatment, 15-20% tend to evolve to a “spent phase” during which clinical and anatomic features of primary myelofibrosis develop

Occasionally (1-2%) can develop blast crisis (AML)

76
Q

Polycythemia vera, spent phase

A

Massive splenomegaly (3020 gm; normal: 150 to 200 gm) largely due to extramedullary hematopoiesis occurring in the setting of advanced marrow myelofibrosis.

77
Q

Chronic Myeloproliferative Disorders Essential Thrombocytosis

overview

A

•Least common of chronic myeloproliferativedisorders
•JAK2 (50%) and MPL (5-10%)tyrosine kinase mutations or calreticulinmutations
•Increased proliferation confined to megakaryocytes with platelet counts of
> 450,000 with megathrombocytes
•Since all chronic myeloproliferative disorders may be associated with thrombocytosis, essential thrombocythemiais a diagnosis of exclusion-
No polycythemia or progressive marrow fibrosis

78
Q

Chronic Myeloproliferative Disorders Essential Thrombocytosis

symptoms

A
  • Bone marrow cellularity only mildly to moderately increased but megakaryocytes are substantially increased in number
  • Thromboses (erythromelalgia) and bleeding occur
  • Indolent clinical course with onset after age 60 and median survival of 12 to 15 years
79
Q

Essential Thrombocytosis: Bone marrow

A

-numerous megakaryocytes, some much larger than normal. Peripheral platelet counts can exceed 1,000,000/microliter.

80
Q

Essential thrombocytosis

slide

A

Peripheral blood smear shows marked thrombocytosis, including giant platelets approximating the size of surrounding red cells

81
Q

Chronic Myeloproliferative Disorders Primary Myelofibrosis

Hallmark

A

rapidly developing obliterativemarrow fibrosis caused by extensive collagen deposition by non-neoplastic fibroblasts
•Stimulated by platelet derived growth factor and TGF-β

82
Q

Chronic Myeloproliferative Disorders Primary Myelofibrosis

overview

A

Early in progression of fibrosis, marrow is hypercellularand there may be transient leukocytosis and thrombocythemia

Eventually the fibrosis obliterates much of the marrow space and abnormal dysplastic precursor forms are seen (large clustered megakaryocytes) and cytopeniasdevelop

JAK2 (50-60%) and MPL (1-5%)tyrosine kinase mutations or calreticulinmutations

83
Q

Chronic Myeloproliferative Disorders Primary Myelofibrosis

clinical

A

Onset after age 60 with initial symptoms of progressive anemia or marked splenomegaly (+/-infarcts) caused by extramedullary hematopoiesis

May develop hyperuricemia and gout

Exhibit “leukoerythroblastosis” in peripheral smear

Anemia, megathrombocytes and basophilia

Aggressive disease: Median survival is 3-5 years

5-20% may develop AML-like blast crisis

84
Q

Primary myelofibrosis(peripheral blood smear).

A

Two nucleated erythroid precursors and several teardrop-shaped red cells (dacryocytes) are evident. Immature myeloid cells were present in other fields. An identical picture can be seen in other diseases producing marrow distortion and fibrosis.

85
Q

Langerhans Cell Histiocytosis

overview

A

A.K.A. eosinophilic granuloma, Langerhans cell granulomatosis, histiocytosisX (“H-X”), Hand-Schuller-Christian disease, Letterer-Siwedisease

Immature dendritic cell
Vesicular nuclei with linear grooves or folds
On EM has “Birbeck” granules (HX bodies) composed of pentalaminartubules with dilations
BRAF, TP53, RAS and MET mutations seen
S-100+ ; CD1+; CD207+ (langerin), CD1a+, HLA-DR+

86
Q

Langerhans Cell Histiocytosis

expresses

A

Express CCR6 like in normal Langerhans cells (CCL20 ligand in skin and bone)

Express CCR7 abnormally (CCL19 & CCL20 in lymphoid tissues)

87
Q

Langerhans Cell Histiocytosis

clinical

A

Age: most cases occur in childhood
Incidence: 5 per million population per year
Race: Caucasian»>African-American
Survival: Unifocaldisease (>99% 5-year survival)
Multisystem disease (66% mortality)

88
Q

Multifocal multisystem Langerhans cell histiocytosis(Letterer-Siwedisease)

A

Most frequently before 2 years of age (occasionally affects adults)

Cutaneous lesions resembling a seborrheic eruption (Langerhans cells infiltrate)

Hepatosplenomegaly, lymphadenopathy, pulmonary lesions and bone lesions

With chemotherapy, 50% 5 year survival, untreated disease is rapidly fatal

89
Q

Unifocal and multifocal unisystem Langerhans cell histiocytoses(eosinophilic granuloma)

A

•Langerhans cells with mixed eosinophils, lymphocytes, plasma cells, and neutrophils

Many patients experience spontaneous regression
Treatment:
Chemotherapy if multifocal
Local excision or irradiation if unifocal

90
Q

Langerhans Cell Histiocytosis

•Unifocallesions

A

•Skeletal system in older children or adults (occasionally skin, lung, or stomach)

91
Q

Langerhans Cell Histiocytosis

•Multifocal unisystem

A
  • Multiple erosive bony masses young children
  • 50% have diabetes insipidus (involve posterior pituitary stalk of hypothalamus)
  • Hand-Schuller-Christian triad: calvarialbone defects, diabetes insipidus, and exophthalmos
92
Q

Pulmonary Langerhans Cell Histiocytosis

Presents as

A

Bilateral interstitial disease (Multifocal unisystem)

Multiple fine nodules and cysts in the middle and upper lung zones

Represents an inflammatory immunologic disorder (usually polyclonal) strongly associated with cigarette smoking

40% are clonal with BRAFmutations indicative of neoplastic proliferation

93
Q

ulmonary Langerhans Cell Histiocytosis

Synonyms

A

Pulmonary Langerhans’ cell Granulomatosis

Pulmonary histiocytosisX

Pulmonary eosinophilic granuloma

Eosinophilic granuloma of the lung

94
Q

ulmonary Langerhans Cell Histiocytosis

Clinical Features

A

Age of onset between ages 15 and 40

Can regress spontaneously on cessation of smoking

95
Q

Langerhans cell histiocytosis.=

A

Eosinophilic Granuloma

96
Q

Langerhans cell histiocytosis microscopy

A

A,Langerhans cells with folded or grooved nuclei and moderately abundant pale cytoplasm are mixed with a few eosinophils.

B,An electron micrograph shows rodlike Birbeckgranules with characteristic periodicity and dilated terminal end.

Heme Path Exam 1 (7 decks)

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