Access the full text.
Sign up today, get DeepDyve free for 14 days.
Hindawi Case Reports in Oncological Medicine Volume 2020, Article ID 8814871, 5 pages https://doi.org/10.1155/2020/8814871 Case Report Unique Presentation of Rosai-Dorfman Disease as Concomitant Appendiceal and Rectal Masses with IgG4-Positive Plasma Cells Diagnosed by Core Needle Biopsy Jenna J. Poldemann , Benjamin H. Hinrichs, and Abouelmagd Makramalla University of Cincinnati Medical Center, USA Correspondence should be addressed to Jenna J. Poldemann; email@example.com Received 26 May 2020; Revised 8 September 2020; Accepted 17 September 2020; Published 9 October 2020 Academic Editor: Josep M. Ribera Copyright © 2020 Jenna J. Poldemann et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Rosai-Dorfman disease (RDD), or sinus histiocytosis with massive lymphadenopathy, is a rare non-Langerhans cell histiocytosis. We report a case of a 69-year-old male with concurrent appendiceal and rectal masses who underwent CT-guided percutaneous biopsy. Histopathology conﬁrmed a diagnosis of RDD with IgG4-positive plasma cells. It is believed to be a subset of RDD that shares similar features with IgG4-related disease suggesting some overlap of the two diseases. Because gastrointestinal RDD accounts for less than 1% of extranodal disease, it is important to recognize this entity in order to guide management. We review the presentation, diagnosis, and treatment of gastrointestinal RDD and discuss the possible overlap with IgG4-related disease. 1. Introduction similar features as immunoglobulin (Ig) G4-related disease and there is speculation of some overlap between a subset Rosai-Dorfman disease (RDD), also known as sinus histiocy- of RDD and IgG4 disease. tosis with massive lymphadenopathy, is a rare non- Langerhans cell histiocytosis, ﬁrst observed in 1965 by 2. Case Report Destombes and established as a clinicopathological disease by Rosai and Dorfman in 1969 [1, 2]. The prevalence is We report the case of a 69-year-old male with a past medical reported as 1 : 200,000 with 100 new cases in the United history of hypertension, coronary artery disease, ischemic States annually . RDD classically presents as massive, cardiomyopathy, noninsulin dependent type 2 diabetes painless bilateral cervical lymphadenopathy, low-grade fever, mellitus, and alcohol dependence who presented to our insti- and weight loss, mainly in children or young adults. How- tution in cardiac arrest and underwent emergent cardiac ever, approximately 43% of cases present with extranodal catheterization. During admission, laboratory results were disease without associated lymphadenopathy . Gastroin- notable for anemia with a hemoglobin of 4.6 g/dL, compared testinal tract involvement accounts for less than 1% of extra- to a baseline hemoglobin of 14.2 g/dL approximately four nodal cases. Nonspeciﬁc ﬁbroinﬂammatory lesions are years prior, with mean corpuscular volume of 65 fL. Further commonly seen in extranodal RDD with stromal sclerosis workup revealed iron levels of less than 10 μg/dL and ferritin and emperipolesis. Characteristic histocytes are S-100+, of 3.3 ng/mL, conﬁrming a diagnosis of iron deﬁciency ane- CD68+, and CD1a- and demonstrate variable frequency of mia. CT of the chest, abdomen, and pelvis with intravenous emperipolesis. It has recently been discovered that RDD has contrast was performed to evaluate for occult malignancy. 2 Case Reports in Oncological Medicine (a) (b) Figure 1: (a) Axial abdomen/pelvis CT showing a soft tissue mass (arrow) at the tip of the appendix. (b) Coronal image of the soft tissue mass (arrow) at the tip of the appendix. (a) (b) Figure 2: (a) Axial abdomen/pelvis CT showing a soft tissue mass (arrow) inseparable from the rectal wall. (b) Sagittal abdomen/pelvis CT showing a soft tissue mass (arrow) inseparable from the rectal wall. Case Reports in Oncological Medicine 3 While chest CT did not show any ﬁndings of intrathoracic malignancy, abdomen and pelvis CT showed a 2:4×3:2 cm soft tissue mass at the tip of the appendix (Figure 1) as well as a 5:3×2:5 cm lobular perirectal mass (Figure 2) which were concerning for a malignancy. There were also borderline enlarged perirectal and pelvic lymph nodes. MRI of the pelvis was also performed again demonstrating an inﬁltrative rectal soft tissue mass which was nonspeciﬁc (Figure 3). A colonoscopy was performed with a normal appearing appendiceal oriﬁce and normal rectal mucosa without any masses identiﬁed. The patient also underwent a ﬂexible sig- moidoscopy with endoscopic ultrasound evaluation of the rectum. No rectal mass was seen on endoscopic ultrasound, and only small, benign appearing perirectal lymph nodes were identiﬁed and therefore, no biopsies were obtained. Carcinoid tumor was in the diﬀerential in addition to Figure 3: Axial image of MRI pelvis showing a nonspeciﬁc rectal malignancy. However, serologic studies showed normal gas- mass (arrow). trin (39 pg/mL), chromogranin A (2 nmol/L), and serotonin (86 ng/mL) levels. Given the presence of concurrent appendi- ceal and rectal masses, tissue sampling was further pursued studies suggest a possible association with viral infections for treatment planning. Three 18-gauge (Figure 4) core such as herpes viruses, Epstein-Barr virus, cytomegalovirus, needle biopsies of the appendiceal mass were obtained and HIV but this has not been substantiated . Recent stud- and submitted to the pathology department for evaluation. ies also demonstrated gene mutations RDD patients which We believe this is the ﬁrst reported case of a CT-guided include NRAS, KRAS, MAP 2K1, and ARAF . Studies core needle biopsy of an extranodal gastrointestinal RDD. have also reported associations with inherited diseases, neo- Histologic sections showed a heterogeneous lesion com- plasms, and autoimmune diseases . posed predominantly of histiocytes with numerous scattered Gastrointestinal RDD causes subacute symptoms with plasma cells and lymphocytes (Figure 5(a)). Many of the gradual progression, typically in middle-aged females . histiocytes showed enlarged nuclei with prominent red Patients may be asymptomatic with incidentally detected nucleoli. Several foci of emperipolesis were also identiﬁed lesions or may present with abdominal pain, constipation, (Figure 5(b)). The accompanying plasma cells were predom- hematochezia, anemia, or bowel obstruction. The majority inantly scattered but focally aggregated. No atypical plasma of reported cases of gastrointestinal RDD have been distal cells were seen. A broad diﬀerential was considered and to the pylorus. The manifestations may be solitary or immunohistochemistry (IHC) performed to evaluate for segmental and can present with or without associated RDD and IgG4-related sclerosing disease, as well as to rule lymphadenopathy. out carcinoma, inﬂammatory myoﬁbroblastic tumor, and Diagnosis of RDD can be made based on clinical history Mycobacterium or fungal infection. The histiocytes with and histopathologic evaluation. Large histiocytes with abun- large nuclei and prominent nucleoli were positive for S-100 dant eosinophilic cytoplasm are characteristic of RDD with (Figure 5(c)) and CD68 IHC (Figure 5(d)) with CD68 also large hypochromatic nuclei and prominent nucleoli. The highlighting large areas of histiocytes. IgG4 IHC staining presence of emperipolesis (lymphocytophagocytosis) is help- showed signiﬁcantly increased positive cells (approximately ful but not necessary for diagnosis. Emperipolesis can also be 53 IgG4-positive cells) in a single 400x ﬁeld (Figure 5(e)) seen in Erdheim-Chester disease, Juvenile xanthogranuloma, in a background of predominantly scattered and focally or even malignant histiocytosis. On immunohistochemistry, aggregated positive cells. Overall, the diagnostic workup histiocytes in RDD are positive for S100 and CD68, with was most consistent with RDD, without evidence of carci- variable positivity in CD163 and CD14 . Histocytes are noma. Given the focally increased IgG4 staining, a compo- negative for CD1a and CD207, which distinguishes RDD nent of IgG4-related sclerosing disease could not be from Langerhans cell histiocytosis. There is also a subset of entirely ruled out, with possible overlap between the two extranodal RDD, usually involving the liver, lungs, or colon entities entertained by the pathologist. that has increased the number of IgG4-positive cells. In a The patient was discharged in stable condition and with study performed by Liu et al., approximately 30% of RDD an outpatient referral to an oncologist and a histiocytosis cases had sclerosis and IgG4 plasmacytosis, typical of IgG4- specialist at an outside institution. We were unable to obtain related disease . While there is no consensus of a cutoﬀ further workup or treatment. for diagnosing IgG4-related disease, an IgG4/IgG ratio > 40% and greater than 10 IgG4+ cells/hpf has been suggested . Approximately 30% of RDD cases studied by Zhang et al. 3. Discussion had greater than 10 IgG4+ cells/hpf and >40% gG4/IgG ratio Rosai-Dorfman disease is an idiopathic proliferation of non- . While a deﬁnite link has not been conﬁrmed, evaluating Langerhans cell histiocytes presumed to be a reactive inﬂam- the IgG4/IgG ratio in RDD patients is recommended as it is matory process . Although the etiology is uncertain, some postulated that there is overlap between these two entities. 4 Case Reports in Oncological Medicine Figure 4: CT-guided core needle biopsy of the appendiceal mass. (a) (b) (c) (d) (e) Figure 5: (a) Histiocytes with characteristic prominent nucleoli and pale abundant cytoplasm (hematoxylin and eosin, 600x). (b) Histiocytes with emperipolesis (hematoxylin and eosin, 600x). (c) Immunohistochemistry of the appendiceal mass with S-100 highlighting large histiocytes with prominent nucleoli (600x). (d) Immunohistochemistry of the appendiceal mass with CD68 highlighting large areas of histiocytes. (e) Immunohistochemistry of the appendiceal mass with IgG4-positive cells. Case Reports in Oncological Medicine 5  H. Umehara, K. Okazaki, Y. Masaki et al., “Comprehensive There is no systematic approach to determining treat- diagnostic criteria for IgG4-related disease (IgG4-RD), 2011,” ment for RDD. 20-50% of cutaneous or nodal RDD cases Modern Rheumatology, vol. 22, no. 1, pp. 21–30, 2014. are self-limited [7, 8]. Surgical excision can be performed  X. Zhang, E. Hyjek, and J. Vardiman, “A Subset of Rosai- for unifocal disease or cases of obstruction and is most eﬀec- Dorfman Disease Exhibits Features of IgG4-Related Disease,” tive in treating cutaneous RDD. Treatment with steroids, American Journal of Clinical Pathology, vol. 139, no. 5, usually in higher doses than other autoimmune disease, has pp. 622–632, 2013. variable responses. Other treatments with possible eﬃcacy  A. Pulsoni, G. Anghel, P. Falcucci et al., “Treatment of sinus include chemotherapy, sirolimus, immunomodulatory ther- histiocytosis with massive lymphadenopathy (rosai-dorfman apy, imatinib, or radiotherapy. disease): Report of a case and literature review,” American Our patient presented due to an acute coronary event Journal of Hematology, vol. 69, no. 1, pp. 67–71, 2002. with iron deﬁciency anemia and had incidentally detected multifocal gastrointestinal masses found on imaging, involv- ing the appendix and rectum, with borderline enlarged pelvic and perirectal lymph nodes. A gastrointestinal malignancy with metastasis was initially the primary consideration. Despite distinctive soft tissues masses seen on CT and MRI, interestingly, the rectal mass was inconspicuous on endo- scopic ultrasonography. This suggests that caution should be taken when using ultrasonography to evaluate disease. Additionally, it is likely that inﬂammatory changes related to RDD in the periappendiceal and perirectal soft tissues mimicked soft tissues masses on certain imaging modalities. Given the multifocal involvement, a percutaneous core biopsy of the lesion, rather than surgical excision, was per- formed for treatment planning. While only the appendiceal mass was biopsied, the perirectal soft tissue mass was felt to represent the same ﬁbroinﬂammatory lesion based on imag- ing and clinical ﬁndings. Pathologic ﬁndings were typical for RDD with increased IgG4 plasma cells. Further studies are needed to evaluate signiﬁcance of IgG4 plasmacytosis and delineate an algorithm for treatment. Conflicts of Interest The authors have no conﬂicts of interests. References  P. Destombes, “Adenitis with lipid excess, in children or young adults, seen in the Antilles and in Mali. (4 cases),” Bulletin De La Societe De Pathologie Exotique Et De Ses Filiales, vol. 58, no. 6, pp. 1169–1175, 1965.  J. Rosai and R. F. Dorfman, “Sinus histiocytosis with massive lymphadenopathy. A newly recognized benign clinicopatholog- ical entity,” Archives of Pathology, vol. 87, no. 1, pp. 63–70,  O. Abla, E. Jacobsen, J. Picarsic et al., “Consensus recommenda- tions for the diagnosis and clinical Management of Rosai- Dorfman-Destombes disease,” Blood, vol. 131, no. 26, pp. 2877–2890, 2018.  D. B. Wimmer, J. Y. Ro, A. Lewis et al., “Extranodal Rosai- Dorfman disease associated with increased numbers of immu- noglobulin G4 plasma cells involving the colon: case report with literature review,” Archives of Pathology & Laboratory Medicine, vol. 137, no. 7, pp. 999–1004, 2013.  L. Liu, A. M. Perry, W. Cao et al., “Relationship Between Rosai- Dorfman Disease and IgG4-Related Disease,” American Journal of Clinical Pathology, vol. 140, no. 3, pp. 395–402, 2013.
Case Reports in Oncological Medicine – Hindawi Publishing Corporation
Published: Oct 9, 2020
Access the full text.
Sign up today, get DeepDyve free for 14 days.