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Mediastinal Lymphomas: Practical and Theoretical Issues

Elaine S. Jaffe National Cancer Institute Bethesda, MD
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Introduction
Mediastinal lymphomas arise in either mediastinal lymph nodes or the thymus gland. Thymic lymphomas
are unique in many respects, as they reflect the function of the thymus gland as an organ involved in
T-cell generation and differentiation. [1] Precursor T-lymphoblastic lymphoma/leukemia (T-LBL) presents
as a mediastinal mass in 50-80% of cases, and the immunophenotype of the neoplastic cells reflects the
stages of cortical thymocyte differentiation. [2] There are also rare reports of natural killer (NK)-cell
tumors with a immature phenotype arising in the thymus gland, and the fetal thymus is one site of
NK-cell development. [1] B-cell lymphomas of the thymus gland are relatively rare. The most common of
these is primary mediastinal large B-cell lymphoma (PMLBCL), of proposed origin from specialized thymic
B-cells found in the medullary perivascular space.
[3,
4]
Classical Hodgkin lymphoma, nodular sclerosis
type, (NSCHL) also arises in the thymus gland, and is genotypically of B-cell origin, although B-cell
markers may be absent. Lymphomas of mucosa-associated lymphoid tissue (MALT )-type may arise in the
thymus gland, as well as in other mucosal or epithelial sites, and reflect the intimate functional
relationship between epithelial and lymphoid components in the thymus gland. [5] A functionally related
lesion is the multilocular thymic cyst seen in autoimmune disease and HIV-infection.
[6,
7,
8]
Lymphomas
involving the mediastinal lymph nodes reflect to some extent the spectrum of systemic nodal lymphomas.
However, because of its inaccessibility as a biopsy site, the primary diagnosis of lymphoma is uncommonly
made in mediastinal lymph nodes.

Myeloid neoplasms rarely have primary presentations in the mediastinum, and may represent a pitfall
in the differential diagnosis of lymphoblastic lymphoma and PMLBCL. A recently described entity,
precursor T-lymphoblastic lymphoma with eosinophilia and t(8;13) typically presents with a mediastinal
tumor with the immunophenotype of T-LBL, but is associated with development
of acute myeloid leukemia in the bone marrow [9] . Acute myeloid leukemias , often with megakaryoblastic
differentiation may develop in the mediastinum and bone marrow in association with
non-seminomatous germ cell tumors with an i(12)p
[10,
11,
12,
13,
14,
15,
16,
17,
18]
.

Histiocytic and dendritic cell tumors are rare tumors that occasionally may present in mediastinal
lymph nodes and the thymus gland. However, as with myeloid neoplasms, most histiocytic neoplasms
presenting in the mediastinum are related to teratomatous germ cell tumors, indicative of the capacity of
germ cell neoplasms to differentiate along many cell lines.
[16,
17,
18,
19]
Incidence and Clinical Features
Precursor T-cell and NK-cell neoplasms are for the most part diseases of children and young adults,
with an increased male: female ratio. Mediastinal large B-cell lymphoma and nodular sclerosis Hodgkin's
lymphoma share many epidemiological features, including prevalence in young adult females, and propensity
to present with localized disease. This observation, plus the fact that synchronous and metachronous
instances of mediastinal large B-cell lymphoma and nodular sclerosis Hodgkin's lymphoma may be
encountered, has suggested that these neoplasms may share a common cell of origin. In addition, there
are rare gray zone lymphomas with features intermediate between both entities.

With the exception of the relatively rare MALT- type lymphomas, most mediastinal lymphomas and
hematopoietic neoplasms are clinically aggressive. The treatment approach is based on the primary
diagnosis, and does not differ for the same disease presenting in other anatomic sites. [20] For cases
of nodular sclerosis Hodgkin's lymphoma presenting with massive mediastinal disease, with a mediastinal
mass in excess of one-third of the chest diameter, combined modality therapy employing both radiation and
chemotherapy may be used.
Precursor T-lymphoblastic lymphoma/leukemia
Most T-LBL are cytologically indistinguishable from their B-cell counterparts. Deep nuclear
indentations or convolutions may or may not be present. The cells have finely distributed chromatin,
inconspicuous nucleoli, and sparse, pale cytoplasm. This is a disease of adolescents and young adults,
with an increased male-to-female ratio. Fifty to 80 percent of patients present with an anterior
mediastinal mass, usually with involvement of the thymus gland [20] . A pleural effusion is common, and
in contrast to the effusions associated with classical Hodgkin's lymphoma, usually contains neoplastic
cells. Bone marrow involvement is common, and progression to a leukemic picture will occur in the
absence of effective therapy. This tumor also has a high frequency of involvement of the central nervous
system.

In lymph nodes T-LBL has a diffuse leukemic pattern of infiltration. There is very little stromal
reaction, and the cells diffusely infiltrate the lymph node parenchyma. Streaming of cells in the
medullary cords may be prominent, especially around vascular structures. Some residual follicles may be
present, but ultimately architectural effacement is the rule. A starry sky pattern is seen in
approximately one-third of cases. Mitotic figures are readily observed.

T-LBL presenting as lymphoma usually has a more mature immunophenotype, than those cases presenting
purely as leukemia [21] . Neoplastic cells are positive for terminal transferase (TDT), and express CD3,
CD5, CD5, and CD7 in the majority of cases. Cytoplasmic CD3 is present prior to the acquisition of
surface CD3 [22] . The cells may lack CD4 and CD8, may be double positive for CD4 and CD8, or express
only one of these antigens. Although CD79a generally is indicative of a B-cell neoplasm, CD79a
expression has been reported in some T-LBL [23] .
Extranodal Marginal Zone B-cell Lymphomas (MALT lymphomas) of the Thymus
Gland
Thymic MALT lymphomas are strongly associated with autoimmune disease, especially Sjogren's syndrome
[5] . They occur more often in females than males (M: F = 1:3). They often have a cystic component,
which is common to many neoplasms involving the thymus gland. Most of the patients present with
localized disease. There may be involvement of regional lymph nodes. Involvement of distant extranodal
MALT sites is seen in approximately 20% of cases.

Histologically, the lesions resemble MALT lymphomas in other sites [24] . Prominent lymphoepithelial
lesions are observed in the thymic epithelium lining the cystic spaces. The atypical lymphoid cells may
also infiltrate the Hassall's corpuscles. As in other MALT lymphomas, reactive lymphoid follicles and
numerous plasma cells may be present.

The differential diagnosis includes multilocular thymic cyst and lymphoid hyperplasia of the thymus
gland
[6,
7,
8]
. In both of the above lesions monocytoid cells are not prominent, and molecular studies
will reveal a polyclonal rather than a monoclonal B-cell population.
Primary Mediastinal Large B-cell Lymphoma (PMLBCL)
PMLBCL is thought to originate from a malignant thymic B-cell [4] . Histologically it is composed of
sheets of large B-cells, often with clear cytoplasm [25] . Sclerosis is often present, and may be
extensive. PMLBCL is characterized by a female predominance, young age at onset, frequent involvement of
thymus, anterior mediastinum and supraclavicular lymph nodes. Patients may present with a superior vena
cava syndrome, due to invasion and compression of local structures.

The cells express CD20 and CD79a. CD30 is expressed in a high proportion of cases, and the cells
typically lack both Ig and HLA Class I and Class II molecules
[26,
27]
. Recent studies have identified
expression of CD23, a marker that is also characteristic of the asteroid cells of the thymus gland [28] .
Asteroid cells have dendritic cytoplasm and are CD20-positive
[29,
30]
, and the recent identification of
CD23 in PMLBCL lends support to the idea that this cell is the precursor of PMLBCL.

PMLBCLs do not characteristically contain the BCL2 or BCL6 rearrangements harbored by other DLBCLs [31] . However, two genes, MAL (encodes a cell surface protein / lipid raft component) and FIG1 (an IL-4 responsive gene) have been identified as frequently expressed in
PMLBCL [32] ; however, they are not expressed in all PMLBCLs and FIG1 is
also expressed in some other DLBCLs [33]

A diagnostic challenge arises from the fact that other types of diffuse large B-cell lymphoma (DLBCL)
can present with mediastinal disease, involving mediastinal lymph nodes either primarily or secondarily.
Distinguishing among these entities can be challenging based on current diagnostic criteria. The
prognosis and response to treatment associated with PMLBCL has been somewhat controversial – perhaps in
part due to the difficulty in accurately separating PMLBCL from other DLBCL. One study reported an
overall 82% survival at 3 yrs with combined chemotherapy and radiotherapy, notably better than other
DLBCL [34]. However, other studies reported a poorer response to therapy, similar or worse than other
DLBCLs [35]. Immunohistochemical studies have been imprecise in separating PMLBCL from other DLBCL,
since both CD10 and BCL-6 have been reported in some cases, and CD30 and other markers lack
specificity [36]. Notably, a recent study utilizing gene expression profiling was able to distinguish
PMLBCL from other DLBCL, even those presenting with mediastinal disease [37]. Using this approach PMLBCL
has a favorable prognosis when appropriately treated. Moreover, both Rosenwald et al. and Savage et al.
found similarities in the gene expression profile between PMLBCL and CHL-NS
[37,
38]
.

Earlier studies had shown that PMLBCL was characterized by chromosomal gains at 9p24, associated with
amplification of JAK2 and REL
[26,
39,
40]
. In keeping with the amplification of JAK2 at 9p, Savage et
al. also verified the protein expression of Stat1 and Traf1 by
immunohistochemistry on paraffin-embedded sections from cases of PMLBCL, DLCBL, and NS-CHL. Consistent
with the data obtained via gene expression profiling, they found Traf1 and Stat 1 proteins to be
expressed in PMLBCLs and NS-CHL, but not in other DLBCL. These data suggest that pathways utilizing
Stat1 and Traf1 are commonly activated in both PMLBCL and in NS-CHL.

The recent gene expression studies also suggested activation of the NF-kB pathway in PMLBCL.
Activation of the NF- k Bpathway also has been reported in classical Hodgkin's lymphoma, and can enhance
survival of malignant cells
[41,
42]
. Activation of this pathway in both PMLBCL and NS-CHL may constitute
a shared mechanism of blocking apoptosis, and lends further support to common pathogenetic mechanisms in
both tumors.
Classical Hodgkin's Lymphoma, Nodular Sclerosis Subtype
CHL-NS is the most common subtype of HL, accounting for approximately 75% of cases in the United
States [20] . This is the only subtype without a male predominance (M :F ratio approximately 1:1). It
tends to occur in young adults, usually under the age of 50 years. Anterior mediastinal involvement is
exceedingly common, with subsequent involvement of cervical and supraclavicular lymph nodes, upper
abdominal lymph nodes, and spleen. Most patients present with stage II disease. Bulky mediastinal
masses may occur and are a poor prognostic sign. The disease also may extend directly into the adjacent
lung.

The diagnosis of CHL-NS requires the presence of
- A nodular growth pattern,

- Broad bands of fibrosis

- A characteristic variant of the Reed-Sternberg (RS) cell known as the lacunar cell [43]
The lacunar cell has abundant clear cytoplasm with a sharply demarcated cell membrane. In
formalin-fixed tissue a characteristic artifact often occurs; the cytoplasm of the cell retracts, leaving
a clear space or lacunus. The lacunar cell may be mononuclear, hyperlobated, or multinucleated. The
nucleoli of lacunar cells generally are smaller than those seen in classic RS cells. In the cellular
phase of CHL-NS, tissue sections show a nodular growth pattern with lacunar cells but with absent or
minimal fibrous bands. This finding represents a phase in the development of CHL-NS, and is not
associated with unique clinical features. A syncytial variant of CHL-NS has been described, in which
prominent aggregates of lacunar cells are seen, often with frequent eosinophils [44] .

The British National Lymphoma Investigation (BNLI) proposed a grading system for CHL-NS, based on the
frequency of malignant cells, as well as other factors including necrosis [45] . In Grade 1 lesions, at
least 75% of the nodules contain scattered RS cells, whereas in Grade 2 lesions, at least 25% of the
nodules contain numerous malignant cells which sheet out, often surrounding areas of necrosis. BNLI
Grade 2 lesions, corresponding to the previous designation of lymphocyte-depleted CHL-NS [46] , are
associated with a more aggressive clinical course, although not all studies have supported the importance
of histological grading in CHL-NS [47] .

Classical Hodgkin's lymphoma has a characteristic immunophenotype. CD30 is positive in close to 100%
of cases, while CD15 is expressed in 75-85% of cases. CD45 is typically negative, but due to the
admixture of numerous reactive cells, the reactivity of the neoplastic cells may be difficult to
determine. CD20 expression is variable, but when present is usually weak and positive in few than 100%
of cells [48] . Other B-cell markers, such as CD79a are typically negative, whereas PAX-5 is positive
[49,
50]
. The absence of CD15 and the expression of B-cell markers has been suggested to be an adverse
prognostic factor in some series [51] . Epstein Barr sequences are typically negative in CHL-NS, and more
often positive in mixed cellularity CHL.

The neoplastic cells are rosetted by CD3 T-cells, and expression of T-cell associated antigens has
been reported sporadically
[52,
53]
. In tissue sections, a positive reaction product sometimes surrounds
the surface membrane of Hodgkin-Reed Sternberg (H-RS) cells when sections are stained for CD3, CD2, and
other T-cell associated antigens. In some cases this reaction product appears extrinsic to the cell
membrane, as though it were adsorbed on the cell surface. It may result from remnants of T-cell
membranes adherent to the H-RS cells. It also has been shown that activated T-cells may transfer T-cell
antigens to other cell types by intercellular antigen transfer [54] . This process involves CD2 and
CD58(LFA3), the ligand for the E-rosette receptor, CD2. Notably, H-RS cells express CD58, the antigen
responsible for the T-cell rosetting phenomenon [55] . This pattern of immunoreactivity may lead to
suspicion of a diagnosis of T-cell lymphoma. However, molecular studies usually fail to show evidence of
clonal T-cell receptor gene rearrangement.

A B-cell lineage has been ascribed to the neoplastic cells of CHL through the use of microdissection
of H-RS cells and molecular analysis [56] . However, the cells fail to function as normal B-cells, and do
not synthesize Ig. A number of mechanisms have been postulated to play a role, including crippling
mutations of the Ig genes, and failure of expression of the transcription factors OCT-2 and Bob.1
[57,
58,
59]
.
Mediastinal Gray Zone Lymphoma
Gray zone lymphoma is defined as a lymphoma with indeterminate histological and immunophenotypic
features. A variety of gray zone lymphomas have been described, and include the interface between CHL
and non-Hodgkin's lymphoma, and the interface between nodular lymphocyte predominant Hodgkin's lymphoma
and T-cell/ histiocyte-rich large B-cell lymphoma. The existence of gray zone lymphomas implies a
biological relatedness between the entities, and not simply superficial histological similarities. One
of the more common gray zone lymphomas, which also may present as a composite lymphoma, involves
mediastinal (thymic) large B-cell lymphoma (PMLBCL) and CHL-NS.
[61,
62,
63]
CHL-NS and PMLBCL share a number
of common clinical features. They both show a female predominance, present in young adults -- albeit at
a slightly older age in PMLBCL --, and involve the anterior mediastinum, thymus gland and supraclavicular
lymph nodes
[25,
64]
.

In gray zone lymphoma cases the histological and immunophenotypic features are transitional between
CHL-NS and PMLBCL. Clusters of cells akin to lacunar cells or even classical RS-cells may be seen in a
background resembling PMLBCL. In some cases the histology is composite, with some areas resembling
CHL-NS and other areas showing sheets of large B-cells characteristic of PMLBCL. The inflammatory
background and pattern of sclerosis usually corresponds to the appearance of the neoplastic cells,
resembling either CHL-NS or PMLBCL, respectively. Immunophenotypically, the features also are
intermediate. Scattered RS-like cells will be CD30-positive, but CD15-positivity is more inconsistent.
Interestingly, the CD30 antigen is often expressed in PMLBCL [26] . The majority of the infiltrating
cells are usually CD20-positive, sometimes with variable staining intensity. Both CHL-NS and PMLBCL are
negative for immunoglobulin expression, so studies of immunoglobulin are non-informative
[27,
65]
.

In a recent study, we identified asynchrony between the morphology and immunophenotype in a series of
mediastinal gray zone lymphomas [66] . If the morphological appearance suggested PMLBCL, the
immunophenotype was often more typical of CHL, and vice versa. These cases are problematic for
pathologists and clinicians because there is uncertainty in how to treat these patients. At the NCI, a
treatment approach using dose-adjusted EPOCH, with rituximab for patients with CD20-expressing tumors,
has proved useful.

PMLBCL has been reported following CHL, but in contrast to most DLBCL and other high grade B-cell
lymphomas that typically present 10 years or longer after the diagnosis of CHL, PMLBCL presents early,
frequently within one year [61] . This close association suggests a different pathogenesis for secondary
PMLBCL, compared to the late occurring aggressive B-cell lymphomas, and raises the likely possibility
that these cases are clonally related to the CHL. [3] CHL-NS and PMLBCL also share a number of molecular
characteristics, such as REL amplification and gains on chromosomal 9, suggesting molecular overlap as
well
[39,
67]
. Recent studies have identified the MAL gene as aberrantly expressed in PMLBCL, and
likewise MAL has been detected in some cases of mediastinal CHL-NS, and grey zone lymphomas (unpublished
data)
[32,
33]
.
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