Obstructive Jaundice Revealing Primary Diffuse Large B-Cell Lymphoma of the Ampulla of Vater in a Child: A Case Report

Abstract

Introduction

Primary lymphoma of the ampulla of Vater is an exceptionally rare entity, with most reported cases being low-grade B-cell lymphomas in adults. Diffuse large B-cell lymphoma (DLBCL) at this site is markedly aggressive and exceedingly uncommon in the pediatric population.

Case Presentation

An 11-year-old male presented with obstructive jaundice. Abdominal ultrasound revealed a dilated gallbladder. Endoscopic retrograde cholangiopancreatography (ERCP) identified a fungating mass at the ampulla of Vater, causing significant biliary dilation. Histopathological and immunohistochemical analysis of biopsy samples (positive for leukocyte common antigen and CD20, negative for CD3) confirmed the diagnosis of DLBCL. Staging CT scan showed localized disease with cervical lymphadenopathy. The patient was managed with biliary stenting and systemic immunochemotherapy (R-COP protocol). Following an episode of hepatotoxicity, doxorubicin was introduced. Posttreatment imaging showed an excellent therapeutic response, and the patient was scheduled for consolidative radiotherapy.

Conclusion

This case underscores that lymphoma, though rare, should be considered in the differential diagnosis of obstructive jaundice even in children. A multimodal approach involving ERCP with biopsy and imperative immunohistochemistry is crucial for an accurate diagnosis to avoid unnecessary surgery. Management centered on immunochemotherapy, with adjuncts like biliary decompression and radiotherapy, can lead to successful outcomes in pediatric ampullary DLBCL.

Introduction

Primary lymphomas of the ampulla of Vater are exceptionally rare, constituting a minor fraction of all gastrointestinal lymphomas and periampullary tumors, which are predominantly adenocarcinomas [1, 2]. Among the few reported cases, the most frequent histological subtypes are low-grade B-cell lymphomas, namely follicular lymphoma (FL) and mucosa-associated lymphoid tissue (MALT) lymphoma [1, 3, 4]. These indolent forms often present with nonspecific symptoms like dyspepsia and can sometimes be managed with conservative strategies, including observation, Helicobacter pylori eradication, or localized radiotherapy [3, 5, 6].

In contrast, diffuse large B-cell lymphoma (DLBCL) of the ampulla is a far more uncommon and aggressive entity [2, 7, 8]. Patients typically present with obstructive jaundice, mimicking the more common pancreatic or ampullary carcinoma, which often leads to extensive diagnostic procedures and even surgical resection [7, 9, 10]. Establishing a preoperative diagnosis is notoriously challenging, as endoscopic biopsies are frequently nondiagnostic due to the submucosal location of the tumor and the presence of inflammatory infiltrates, leading to a significant risk of misdiagnosis and unnecessary surgery [7, 9, 11].

The literature on this subject is confined to isolated case reports and small series, nearly all of which describe the condition in adult populations [1, 2, 7, 9, 10]. The occurrence of primary ampullary DLBCL in the pediatric age-group is extraordinarily rare, with only a handful of cases reported in broader reviews of pediatric gastrointestinal lymphomas.

To our knowledge, fewer than five pediatric cases of primary ampullary DLBCL have been reported in the literature, making this an exceptionally rare presentation. We report a highly unusual case of a primary DLBCL of the ampulla of Vater in an 11-year-old male who presented with obstructive jaundice.

Case Presentation

An 11-year-old Arab male presented with clinical and laboratory features of obstructive jaundice. Laboratory investigations at admission revealed marked cholestasis: total bilirubin 12.5 mg/dL (direct 9.8 mg/dL), alkaline phosphatase 450 U/L, AST 120 U/L, ALT 110 U/L. Complete blood count showed mild anemia (Hb 10.2 g/dL) with normal white cell and platelet counts. An initial abdominal ultrasound was performed to evaluate the hepatobiliary system.

The abdominal ultrasound revealed a homogenous liver without masses and intrahepatic ducts within normal limits. Notably, the gallbladder was significantly dilated (9 cm) and contained a large amount of sludge, though the common bile duct measured a normal 5 mm. No other abdominal abnormalities were identified.

Given the clinical picture of obstruction, an endoscopic retrograde cholangiopancreatography (ERCP) was performed. This revealed the definitive cause: a fungating, ulcerated mass at the ampulla of Vater, with significant proximal dilation of the common bile duct to over 2 cm (Fig. 1–4). Biopsies of the mass were taken, and a biliary stent was placed to relieve the obstruction.

Fig. 1.

Initial abdominal ultrasound – transverse view of the gallbladder. A B-mode ultrasound image demonstrating marked distension of the gallbladder, which appears anechoic/hypoechoic (dark) but contains internal echoes suggestive of a large volume of sludge. The dimension markers are visible, possibly indicating the initial 9-cm dilation mentioned in the case.

Fig. 4.

Initial abdominal ultrasound – measurement of gallbladder or adjacent structure. A B-mode ultrasound image with caliper measurements (“D + D = 79.1 mm” and “D + D = 1b, c cm”) used to quantify the size of the significantly dilated gallbladder or a nearby structure. The gallbladder dilation was a key initial finding suggestive of an obstructive process.

Fig. 2.

Initial abdominal ultrasound – Doppler scan. A pulsed wave Doppler tracing, likely obtained from the hepatic artery or portal vein, used to assess vascularity in the region or to rule out a vascular mass. It displays the characteristic flow patterns (above and below the baseline) within a sampled vessel.

Fig. 3.

Initial abdominal ultrasound – sagittal view of the liver/gallbladder. A B-mode ultrasound image showing the homogeneous liver parenchyma (top/right) and the inferior margin of the significantly distended gallbladder (bottom/left), further illustrating the initial finding of gallbladder hydrops (dilation).

Histopathological microscopic examination of the biopsy specimens showed a diffuse tumor architecture with destruction of normal tissue and dense infiltration by lymphoblasts. Subsequent immunohistochemistry was decisive: the tumor cells were strongly positive for leukocyte common antigen and CD20, and negative for CD3 (Fig. 5). Due to resource limitations in our setting, additional stains (such as CD10, BCL6, BCL2, MUM1, and Ki-67) were not available. The diagnosis of DLBCL was made based on the diffuse architecture, cytomorphology of large lymphoid cells, available immunoprofile, and clinical context. The final diagnosis was confirmed as DLBCL, a high-grade non-Hodgkin lymphoma of B-cell origin.

Fig. 5.

Histopathology image showing strong CD20 positivity in tumor cells.

A staging CT scan of the chest, abdomen, and pelvis confirmed the correct placement of the biliary stent, with no residual dilation of the common bile duct. The scan identified bilateral cervical lymphadenopathy (largest node 13 mm) but showed no evidence of disease in the chest, abdominal viscera, or bones. Staging was based on contrast-enhanced CT, as PET-CT is not available in our center. Bone marrow biopsy was not performed given the localized disease (stage I) and the urgent need for biliary decompression and systemic therapy.

The patient was started on systemic immunochemotherapy with the R-COP protocol (rituximab, cyclophosphamide, vincristine, and prednisone) with doxorubicin withheld initially due to hepatotoxicity. After biliary stenting and improvement in liver enzymes, doxorubicin was safely added to intensify therapy. He completed six cycles given the bulky localized disease. During treatment, he developed hepatotoxicity, evidenced by elevated liver enzymes. In response, his regimen was adjusted as noted above.

A subsequent follow-up CT scan demonstrated a significant and marked reduction in both the primary ampullary mass and the previously noted cervical lymphadenopathy, indicating an excellent therapeutic response. The patient achieved a complete radiological response after immunochemotherapy. Given the localized nature of the primary tumor, the patient was subsequently prepared for consolidative radiotherapy to achieve optimal local disease control.

Discussion

Primary lymphoma of the ampulla of Vater is a rare clinical entity, with the majority of reported cases occurring in adults and most commonly being low-grade subtypes, such as FL and MALT lymphoma [1, 3, 12]. The presentation of a high-grade DLBCL in this location, particularly in an 11-year-old child, is an extraordinarily rare occurrence that underscores the diverse and unpredictable nature of lymphoproliferative disorders [2, 7].

The clinical presentation of our patient, characterized by obstructive jaundice, is a common feature of periampullary tumors but is more frequently associated with carcinoma. This often leads to an initial diagnostic suspicion of pancreatic or biliary adenocarcinoma, as was seen in numerous other reported cases where the correct diagnosis was only made post-operatively [7, 9, 11]. The diagnostic challenge is compounded by the fact that endoscopic biopsies can be non-diagnostic, either due to the submucosal location of the lymphoma or the presence of inflammatory cells and tissue necrosis that obscure the underlying neoplastic population [7, 9]. In our case, the definitive diagnosis was secured through ERCP with biopsy, aided decisively by immunohistochemistry, which revealed a CD20+, CD3− profile, confirming a B-cell lineage. This highlights the indispensable role of immunohistochemistry in distinguishing lymphoma from other small round blue cell tumors and reactive conditions, a point emphasized in the literature on gastrointestinal lymphomas [1, 7].

The management of ampullary DLBCL requires a multidisciplinary approach. While surgery (Whipple’s procedure) was historically performed for both diagnosis and treatment, especially in cases mimicking carcinoma, the current paradigm for DLBCL favors systemic chemotherapy as the cornerstone of treatment [2, 7, 9]. Our patient was successfully treated with immunochemotherapy (R-COP), aligning with the standard of care for this aggressive histology. The subsequent development of hepatotoxicity, necessitating a regimen adjustment to include doxorubicin, illustrates the challenges of delivering full-dose chemotherapy in the face of organ dysfunction, a complication that has been noted in other cases requiring biliary intervention [9]. The decision to employ consolidative radiotherapy is supported by its established efficacy in providing excellent local control for localized lymphomas, including in the ampullary region, as demonstrated in cases of MALT lymphoma [5].

This case is particularly notable for the patient’s age. Nearly all documented cases of primary ampullary lymphoma, including the largest series, are in adults, with a median age typically over 50 years [1, 3, 7, 9]. The occurrence of DLBCL at the ampulla of Vater in a child is a remarkable exception. This demographic distinction is crucial, as it broadens the differential diagnosis for obstructive jaundice in the pediatric population beyond the more common choledochal cysts or stones to include very rare malignancies like lymphoma.

This case also highlights the diagnostic challenges in resource-constrained settings. While an extensive immunohistochemical panel (including CD10, BCL6, BCL2, MUM1, and Ki-67) is ideal for subclassifying DLBCL and ruling out mimics such as Burkitt lymphoma or high-grade FL, such studies were not available. The diagnosis relied on morphology, available stains (CD20+, CD3–), and clinical correlation – an approach sometimes necessary in conflict zones where advanced pathology services are limited.

In conclusion, this case of pediatric primary DLBCL of the ampulla of Vater highlights several key lessons. First, lymphoma should be considered in the differential diagnosis of obstructive jaundice across all age groups, even in children. Second, a multimodal diagnostic approach, including ERCP and imperative immunohistochemical analysis, is essential for an accurate diagnosis and to avoid unnecessary radical surgery. Finally, a treatment strategy centered on immunochemotherapy, with biliary decompression and consolidative radiotherapy as adjuncts, can achieve successful outcomes even for this rare and aggressive entity in a pediatric patient.

Statement of Ethics

The Ethics Committee at Damascus University does not require ethical approval for reporting individual cases or case series. Written informed consent was obtained from the parent of the patient for publication of the details of their medical case and any accompanying images. The CARE Checklist has been completed by the authors for this case report, attached as online supplementary material (for all online suppl. material, see https://doi.org/10.1159/000550534).

Conflict of Interest Statement

The authors have no conflicts of interest to declare.

Funding Sources

This study was not supported by any sponsor or funder.

Author Contributions

Ahmad Al-Bitar was a major contributor to writing the manuscript. Maher Saifo analyzed and interpreted the patient data (supervisor). All authors read and approved the final manuscript.

Funding Statement

This study was not supported by any sponsor or funder.

Data Availability Statement

All data generated or analyzed during this study are included in this article. Further inquiries can be directed to the corresponding author.