Diffuse large B cell lymphoma presenting as Horner's syndrome in a patient diagnosed with neurofibromatosis type 1: a case report and review of the literature.

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by  Lueangarun, Saoraya

LueangarunandAuewarakulJournalofMedicalCaseReports2012,6:8
JOURNAL OF MEDICAL
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CASE REPORTS
CASE REPORT Open Access
Diffuse large B cell lymphoma presenting as
’
Horner s syndrome in a patient diagnosed with
neurofibromatosis type 1: a case report and
review of the literature
Saoraya Lueangarun1 and Chirayu U Auewarakul2*
Abstract
Introduction: Horner’s syndrome has a variety of etiologies ranging from benign to serious life-threatening
conditions and has been infrequently reported as a presenting symptom of patients with lymphoid neoplasms.
Only one case of Burkitt’s lymphoma presenting with toothache, paresthesia, and Horner’s syndrome has been
described and no case reports of diffuse large B-cell lymphoma as the etiology of Horner’s syndrome currently
exist in the literature. In addition, lymphoid neoplasms have rarely been reported to occur in patients with
neurofibromatosis type 1 despite an increased risk of many types of cancer in such cases.
Case presentation: A 28-year-old Thai man presented with a progressively enlarged left supraclavicular mass
together with a significant weight loss and night sweating for four months. He also noticed hoarseness and ptosis
of his left eye associated with double vision for two months. Physical examination revealed large supraclavicular
lymphadenopathy and Horner’s syndrome (ptosis, miosis, and anhydrosis) on the left side of his face. A large
mediastinal mass was clearly detected by chest X-ray and computed tomography and subsequent lymph node
biopsy provided a diagnosis of diffuse large B-cell lymphoma. Interestingly, the patient was also definitely
diagnosed with neurofibromatosis type 1 from multiple café au lait macules, axillary freckles, three neurofibromas,
multiple Lisch nodules, and a history of affected family members. He subsequently received chemotherapy with a
good response. Twenty-seven cases of various types of lymphoid neoplasms previously reported to occur in
neurofibromatosis type 1 patients were also extracted from the literature. All cases were non-Hodgkin lymphoma
and the major subtype was T-cell. Only nine cases were B-cell lymphoma. The majority of cases were young with a
median age at lymphoma diagnosis of 9.4 years (range 1.1 to 77 years). Two-thirds of the cases were boys or men.
Other concomitant malignancies were brain tumor, colorectal cancer, pheochromocytoma, and acute
lymphoblastic leukemia.
Conclusions: We describe for the first time a case of diffuse large B-cell lymphoma that occurred in a
neurofibromatosis type 1 patient with Horner’s syndrome. Horner’s syndrome can be an initial manifestation of
diffuse large B-cell lymphoma. Patients who present with a classical triad of Horner’s syndrome should always be
fully investigated for lymphomatous involvement, especially in the thorax. The exact molecular mechanism for
diffuse large B-cell lymphoma development in neurofibromatosis type 1 cases remains to be elucidated.
*Correspondence:[email protected]
2DivisionofHematology,DepartmentofMedicine,FacultyofMedicineSiriraj
Hospital,MahidolUniversity,2PrannokRoad,Bangkok10700,Thailand
Fulllistofauthorinformationisavailableattheendofthearticle
©2012LueangarunandAuewarakul;licenseeBioMedCentralLtd.ThisisanOpenAccessarticledistributedunderthetermsofthe
CreativeCommonsAttributionLicense(http://creativecommons.org/licenses/by/2.0),whichpermitsunrestricteduse,distribution,and
reproductioninanymedium,providedtheoriginalworkisproperlycited.
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Introduction supraclavicular mass, significant weight loss, and night
Neurofibromatosis type 1 (NF1) (formerly known as von sweats for four months.
Recklinghausen disease) is an autosomal dominant neu- Two months prior to this admission, he noticed hoar-
rocutaneous disorder characterized by several distinct seness associated with ptosis of his left eye and double
clinical features such as café au lait macules, intertrigi- vision. The physical examination at presentation
nous freckling, Lisch nodules, neurofibromas, osseous revealed ptosis of his left eye with a miotic pupil and
dysplasia, and a family history of first-degree relatives anhydrosis on his left hemifacial area, all of which were
affected by NF1 [1-3]. A variety of neoplasms have been compatible with Horner’s syndrome. His skin examina-
reported to occur in association with NF1 including tion disclosed several dermatologic signs such as multi-
optic pathway gliomas, astrocytomas, brainstem gliomas, ple well-defined brownish café au lait patches on the
and malignant peripheral nerve sheath tumors abdomen, areolae, arms, back and buttocks, and axillary
(MPNSTs) [4-6]. Other types of tumors were also freckles (Figure 1). There were also soft movable skin-
described such as pheochromocytoma, chronic myeloid colored nodules located on his left thigh, left forearm,
leukemia, rhabdomyosarcoma, and gastrointestinal stro- and back. Subsequent ophthalmologic slit-lamp exami-
mal tumors [1,7-9]. However, the existence of lymphoid nation detected multiple Lisch nodules which are raised
neoplasms in patients with NF1, particularly diffuse pigmented hamartomas of the iris. He reported having
large B-cell lymphoma (DLBCL), has been infrequently multiple pigmented skin lesions and rubbery nodular
reported [1,9]. skin lesions over his entire body since childhood. His
Horner’s syndrome is a recognized neurological syn- father also had similar skin lesions over the whole body
drome consisting of ptosis, pupillary miosis, and facial area. Other pertinent examination included a large non-
anhydrosis [10]. The syndrome occurs as a result of the tender and rubbery mass (15 cm in length and 10 cm in
interruption of the oculosympathetic pathway which width) in the left supraclavicular region with no palpable
could occur along its route from the hypothalamus, lymph nodes elsewhere in the body.
brain stem, spinal cord, brachial plexus, lung apex, caro- Routine laboratory tests revealed a hemoglobin level of
tid artery, cavernous sinus and finally to the eye [10,11]. 14.5 g⁄dL, a total leukocyte count of 8.2 × 109/L (70%
Three types of Horner’s syndrome exist according to the neutrophils, 22% lymphocytes, and 8% monocytes) and a
anatomical level of the defect, that is, central, pregan- platelet count of 280 × 109/L. Serum lactate dehydro-
glionic, and postganglionic [12]. A variety of disorders genase (LDH) was 525 U/L (normal range, 225 to 450
have been described in association with Horner’s syn- U/L) and serum uric acid was 13.4 mg/dL (normal
drome ranging from brain stem ischemia, brain tumors, range, 2.4 to 7 mg/dL). His liver function tests were
demyelinating diseases, direct spinal cord trauma, iatro- normal. Chest X-ray revealed a large anterior mediast-
genic disruption of the sympathetic pathway from radi- inal mass (Figure 2). Computed tomography (CT) of his
cal neck dissection, carotid angiography, stenting or neck showed matted lymphadenopathy on the left side
endarterectomy, spontaneous carotid dissection, aortic of the neck, which extended along the carotid vessels to
aneurysm to various malignant conditions that directly the left thoracic cavity. Computed tomography (CT) of
or indirectly affect the normal sympathetic innervations the chest disclosed a large (10.9 × 9.7 × 18 cm) lobu-
[10-12]. Primary and metastatic lung carcinoma, Pan- lated heterogeneous-enhancing mass with a central
coast tumor, thyroid carcinoma, neuroblastoma, Bur- necrosis in the anterior and middle mediastinum which
kitt’s lymphoma, and Hodgkin’s disease have all been extended superiorly into the left anterior neck (C5-C6
described as the causes of Horner’s syndrome [10-13]. level), and encased around his aortic arch, left subcla-
Interestingly, DLBCL which is the most common hema- vian artery, left jugular vein, trachea, left main bronchus
tologic malignancy worldwide has never been shown to and left pulmonary artery (Figure 3A). Multiple subcen-
be associated with Horner’s syndrome at the outset. In timeter mediastinal lymphadenopathies were also
addition, the occurrence of DLBCL as the etiology of observed. Left pleural effusions with adjacent atelectasis
Horner’s syndrome in an NF1 patient has not been of the left lower lobe were also present. From these
described in the literature. We describe for the first findings, the differential diagnoses of this mass were
time the case of a young Thai man with NF1 who was lymphoma, teratoma, lung cancer or metastasis and
confirmed by pathology as having DLBCL after he pre- malignancy associated with NF1, such as MPNSTs and
sented with a classical Horner’s syndrome. chromaffin cells tumor. Therefore, supraclavicular
lymph node biopsy was performed to make a definite
Case presentation pathological diagnosis which revealed diffuse, mixed
A 28-year-old Thai man presented to Siriraj Hospital small and large lymphoid cells compatible with malig-
with a history of a progressively enlarged left nant lymphoma (intermediate grade). Immunostaining
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Figure1Thepatient’sclinicalpresentations;neckmass(A),axillaryfreckles(B),café-au-laitmacules(C),andneurofibroma(D).
of the cells demonstrated that neoplastic cells were demonstrated. Once the diagnosis and the staging were
marked with CD20, CD10, CD43, BCL2, BCL6, and completed, he was treated with the standard CHOP
MUM1, but not with CD3, CD5, CD23, CD34, TdT, or (Cyclophosphamide (Cytoxan), Hydroxyrubicin (Adria-
cyclin D1. Kappa but not lambda light chain restriction mycin), Oncovin (Vincristine), Prednisone) chemother-
was also demonstrated. The malignant cells possessed a apy regimen for eight cycles, to which the tumor
B-cell phenotype with mixed germinal center B-cell and responded well (Figure 3B).
activated B-cell features which were consistent with a
DLBCL subtype according to the 2008 World Health Discussion
Organization (WHO) Classification of neoplasms of the This report describes the case of an NF1 patient who
hematopoietic and lymphoid tissues [14]. Staging studies presented with a rare manifestation of malignant lym-
showed no bone marrow involvement and computed phoma, that is, Horner’s syndrome. In our case, NF1
tomography (CT) of the whole abdomen revealed nor- could be definitely diagnosed according to the National
mal attenuation of liver parenchyma without a definite Institute of Health Consensus Development Conference
space occupying lesion. The spleen was unremarkable Diagnostic Criteria which require the presence of six or
and no intraabdominal lymphadenopathy could be more café au lait macules, two or more subcutaneous
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Figure2ChestX-rayrevealedalargeanteriormediastinalmass.
neurofibromas, axillary or groin freckling, and two or malignancies with an estimated risk of 5% to 15% in
more Lisch nodules seen on slit lamp examination [2]. affected individuals, most reported types of malignancies
An autosomal dominant family history was also demon- are not lymphoid neoplasms [8,15]. Since the association
strated in this patient which goes along well with the between NF1 and malignant lymphoma is not fully
typical NF1 inheritance pattern. Although it is well- recognized, we searched the literature through the US
known that NF1 patients have an increased risk of National Library of Medicine (PUBMED) using the
Figure3Computedtomography(CT)oftheneckandchestshowedalargelobulatedheterogeneous-enhancingmasswithcentral
necrosisattheanteriorandthemiddlemediastinumwithsomepartsextendingintotheleftanteriorneck(A).Significantimprovement
oflymphomatousinvolvementattheprevascularregionwasseenaftereightcyclesofCHOPchemotherapy(B).CHOP,Cyclophosphamide
(Cytoxan),Hydroxyrubicin(Adriamycin),Oncovin(Vincristine),Prednisone.
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keywords “malignant lymphoma”, “lymphoma”, and Although the central nervous system involvement of
“neurofibromatosis” to find out if malignant lymphoma malignant lymphoma is well documented, the inter-
had been previously reported in NF1 cases and how fre- ruption of the sympathetic pathway causing Horner’s
quently they had appeared in the literature. Only 27 syndrome is an unusual manifestation of malignant
cases of malignant lymphoma were reported in NF1 lymphoma [37]. In our current review of the literature,
patients [7,16-34], and only two of them were DLBCL there was only one described case of Burkitt’s lym-
[27,33]. Table 1 summarizes details of all the reported phoma presenting with toothache, paresthesia and
cases except one case that was published in the non- Horner’s syndrome [13,37]. Hodgkin’s disease was also
English literature [35]. infrequently reported [7,16-34]. No cases of DLBCL as
With respect to the symptoms of NF1 in the the cause of Horner’s syndrome have been described
reported series, 20 cases had café au lait macules in the literature. The mechanism of Horner’s syn-
(CALM), 13 cases had neurofibromas, five cases had drome in this patient could be explained by the
axillary or inguinal freckles, and three cases had Lisch aggressive nature of DLBCL creating a huge mass in
nodules. These cases were typical of NF1 in which the anterior and middle mediastinum which encased
CALM, neurofibroma and skin-fold freckling are the his aortic arch, subclavian artery, left jugular vein, and
main symptoms [36]. Most of the reported cases (17 left pulmonary artery, and extended to his left neck
cases) had a family history of neurofibromatosis. along the carotid vessels. The tumor mass could
Twelve cases had family members with neurofibroma- potentially affect the oculosympathetic pathway that
tosis and malignancies. All cases were diagnosed with normally enters the thorax, crosses the lung apex, and
non-Hodgkin’s lymphoma (NHL). The majority of subsequently runs along the carotid vessels to the
cases were young with a mean age of 23 years (range eyes.
1.1 to 77 years; median 9.4 years) at lymphoma diag- The direct association between NF1 and T-cell lym-
nosis and two-thirds of the cases were boys and men. phoma in most previously reported cases or between
The lymphoma subtype was predominantly T-cell (13 NF1 and DLBCL in this present case is unclear. The
of 25 cases), especially T-lymphoblastic lymphoma NF1 gene is a tumor suppressor gene and multiple key
(five cases) and cutaneous T cell lymphoma (two pathways are potentially involved in the development of
cases). Nine cases had B-cell lymphoma and five cases cancer in NF1 cases such as RAS/mitogen-activated pro-
had unclassified lymphoma. Six cases presented with a tein kinase (MAPK) and AKT/mammalian target of
mediastinal mass and others presented with a head rapamycin (mTOR) [38,39]. Germline mutations of the
and neck mass (three cases), an abdominal mass (three NF1 generally result in decreased intracellular neurofi-
cases), lymphadenopathy (two cases), skin rash (two bromin protein levels and lead to increased RAS signal-
cases), a localized brain lesion (one case), and a ing to its downstream effectors [38]. Mutations in the
shoulder mass (one case). No NF1 patients in prior DNA mismatch repair genes, such as MLH1 (human
series were reported to present with Horner’s syn- mutL homolog 1) [24,25] and MSH6 (human mutS
drome. Other concomitant malignancies identified homolog 6), have been reported in NF1 cases with
were brain tumors (four cases), colorectal cancer (two malignant lymphoma (as shown in Table 1), early-onset
cases), pheochromocytoma (two cases), and acute lym- CNS tumors, and colorectal cancer [31]. Lymphoma
phoblastic leukemia (ALL) (two cases). One case devel- potentially occurs in NF1 patients through a series of
oped ALL prior to NHL [21] and the remaining case proto-oncogene activation and mismatch repair gene
developed ALL 15 months after diagnosis of NHL [7]. mutations although the precise pathogenetic mechanism
Additional disorders found among the 26 cases were needs to be further explored.
Gardner syndrome (one case) and Gaucher’s disease
(one case). Thirteen cases received standard che- Conclusion
motherapy while six cases received radiotherapy. None DLBCL has never been shown to manifest initially as
of the NF1 cases received stem cell transplantation. Horner’s syndrome. To the best of our knowledge, our
Ten patients (37%) responded to therapy and survived. case represents the first case ever of Horner’s syndrome
Our patient also responded well to eight cycles of that occurred as a result of oculosympathetic interrup-
CHOP chemotherapy with resolution of his Horner’s tion by DLBCL. This case reveals a rare association
syndrome and disappearance of all tumor masses. between NF1 and DLBCL in contrast to other more
Immunotherapy such as rituximab was not given in common non-hematologic malignancies that frequently
this particular patient due to limited availability of occurred in NF1 cases. Molecular mechanisms required
health insurance coverage for such costly drugs in the for the initiation and propagation of lymphoma in NF1
country. cases should be determined to answer why and how
Table 1Summarized data ofall reported NF1caseswithlymphoma development
hL
CNaos.e References SAegxe/at Lymphoma Othertumor(s) Plyrmespehnotamtiaonof Fhaismtoilryy Fhaismtoilryy NFcriteria* Treatment Outcome ttp://wueang
o(yn)set oNfF1 ocafncer ww.jmaruna
1. [16] F,20 Burkittlymphoma Pheochromocytoma dentalextractsite NA NA CALM,neurofibromas Chemotherapy Alive ednd
mass and icaAu
radiotherapy lcaew
23.. [[1178]] MF,,611 DTdly-iimcffffeeuplrlsheelnoy,tmmpiaoaptoehdrolyblastic GGlaiordbnlaesrtosymnadrmomuletiforme ammnaetsedsriaiosrtinmaeldmiaasstsinal YY YY CCAALLMM CChheemmootthheerraappyy DDeeaatthh sereports.comarakulJourna
lymphoma andpleuraleffusion aranddiotherapy /conten lofMed
4. [18] F,1.1 T-celllymphoblastic neckmass Y Y CALM Radiotherapy Death t/6 ica
lymphoma /1/8 lCa
5. [18] M,4 T-celllymphoblastic mediastinalmass Y Y CALM,neurofibromas Chemotherapy Death se
lymphoma andpleuraleffusion and Re
p
radiotherapy o
rts
6. [7] M,16 T-celllymphoma Acutelymphoblasticleukemia,15 mediastinalmass Y Y CALM Chemotherapy Death 2
0
monthsafterdiagnosisof and 1
2
lymphoma radiotherapy ,6
:8
7. [19] M,45 Well-differentiated Pheochromocytoma,renalartery abdominalmass NA NA CALM,neurofibromas NA Alive
lymphocyticlymphoma stenosis
8. [20] M,59 Diffuse,mediumsized lymphadenopathy Y NA CALM,neurofibromas Chemotherapy Death
celltype,Bcelltype
NHL
9. [21] M,7.8 T-NHL Acutelymphoblasticleukemia, Y Y NA NA Death
priortoNHL
10. [21] F,4.1 T-NHL Y Y NA NA Death
11. [21] M,1.6 T-NHL Y Y NA NA Death
12. [21] M,13.7 Mixed Y NA NA NA Alive
centroblastic/
centrocyticNHL
13. [21] M,7.2 B-NHL N NA NA NA Death
14. [22] F,4.6 B-cellNHL Glioblastomamultiforme rightiliacfossamass N N CALM,neurofibromas Chemotherapy Alive
15. [23] M,65 Diffusemixedtype,T generalized Y NA CALM,neurofibromas Chemotherapy Death
celltypeNHL lymphadenopathy
16. [24] F,2** UndifferentiatedNHL Y Y CALM,neurofibromas, NA Death
pseudoarthrosis
P
a
17. [25] M,3.3** NHL Y Y CALM NA Death g
e
6
o
f
9
Table 1Summarized data ofall reported NF1caseswith lymphoma development (Continued) hL
18. [26] M,44 CutaneousT-cell Astrocytoma skinrash NA NA CALM,neurofibromas, Phototherapy Alive ttp://wueang
lymphoma freckles astnedrotiodpical ww.jmaruna
19. [27] F,77 DLBCL leftlowerabdominal Y NA CALM,neurofibromas Chemotherapy Alive ednd
massandweight icA
au
loss lcaew
20. [28] M,2 T-cellNHL Colorectalcancer tmesetdiciauslatirnaalndmass Y NA CALM,freckle Caranhddeiomthoethraepraypy Alive sereportsarakulJo
21. [29] M,72 CutaneousT-cell skinrash Y NA CALM,neurofibromas, NA Alive .com urna
2232.. [[3310]] MM,,94.74 TCtlyy-NmpceSeplllhyloymmmppahhoommaa,Bcell Anaplasticastrocytoma mpmaearsidesitaos-toincaclipmitaaslslobe NNA YNA CNnfnrooeAecdduLkMuurloellee,fsissfb,reLroicsmkclheass,Lisch CNhAemotherapy NDAeath /content/6/1/8 lofMedicalCase
24. [32] M,5*** Lymphoblastic Colorectalcancer Y Y CALM,freckles NA Death Re
p
lymphoma o
rts
25. [33] F,50 DLBCL shouldermass N N CALM,neurofibromas Chemotherapy Alive 2
0
1
26. [34] F,6 MediastinalT-cell Gaucher’sdisease NA NA NA NA NA 2,
lymphoblastic 6:8
lymphoma
27. Present M,28 DLBCL neckmass N N CALM,neurofibromas, Chemotherapy Alive
case freckles,Lisch
nodules
Abbreviations:CALM,caféaulaitmacules;CNS,centralnervoussystem;DLBCL,diffuselargeB-celllymphoma;F,female;M,male;N,No;NA,notavailable;NF,neurofibromatosis;NF1,neurofibromatosistype1;NHL,
non-Hodgkin’slymphoma;y,years;Y,Yes;
*Frecklesincludeaxillaryoringuinalfreckles
**PresenceofMLH1(humanmutLhomolog1)mutation
***PresenceofMSH6(humanmutShomolog6)mutation
P
a
g
e
7
o
f
9
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