Primary Rectal Burkitt Lymphoma in a Child: A Case Report and a Review of the Literature

Abstract

Introduction

Primary colorectal lymphomas are exceptionally rare in the pediatric population, with Burkitt lymphoma representing an even rarer subset. The nonspecific symptoms can often mimic benign conditions, leading to delays in diagnosis. We report a case of primary rectal Burkitt lymphoma in a child who presented with isolated lower gastrointestinal bleeding.

Case Presentation

A 10-year-old previously healthy boy presented with a 3-week history of painless, bright red blood per rectum. He had no systemic B symptoms, and his physical examination was unremarkable except for fresh blood on digital rectal examination. Initial workup revealed iron deficiency anemia and a markedly elevated serum lactate dehydrogenase. A contrast-enhanced CT scan demonstrated a large, heterogeneous mass at the rectosigmoid junction with associated mesorectal lymphadenopathy. Colonoscopy revealed multiple ulcerated polyps and a friable mass. Histopathological and immunohistochemical analyses confirmed the diagnosis of sporadic Burkitt lymphoma, characterized by a diffuse infiltrate of monomorphic lymphoid cells with a “starry-sky” appearance, positive for CD20 and CD10, and with a Ki-67 proliferation index approaching 100%. Staging investigations (bone marrow biopsy and lumbar puncture) confirmed localized disease (stage II). The patient was treated with a risk-adapted, multi-agent chemotherapy regimen (based on the FAB/LMB 96 protocol) followed by consolidative radiotherapy. He achieved complete remission, as confirmed by imaging 1 month posttreatment, and remains disease-free at his 18-month follow-up.

Conclusion

This case highlights that primary rectal Burkitt lymphoma, though rare, should be considered in the differential diagnosis of persistent lower gastrointestinal bleeding in children. A high index of suspicion, combined with prompt endoscopic evaluation and biopsy, is crucial for early diagnosis. This report reinforces that with timely diagnosis and adherence to modern, risk-adapted chemotherapy protocols, even aggressive lymphomas in this unusual location can be highly curable, contributing to the limited body of literature on this rare entity.

Introduction

Lymphoma is the third most common malignancy in the pediatric population, accounting for approximately 10%–12% of all childhood cancers [1]. While the incidence of lymphoma in children is well-documented, primary extranodal involvement of the gastrointestinal tract – and the colorectum in particular – remains a distinctly rare clinical phenomenon [2, 3].

Primary lymphoma of the rectum is exceedingly uncommon in children, with only a handful of cases reported in the literature. The clinical presentation is often nonspecific, which can mimic more common benign conditions and lead to delays in diagnosis [4]. Symptoms may include vague abdominal pain, change in bowel habits, or, as in the case we present, lower gastrointestinal bleeding. Complications such as obstruction or perforation are infrequent at the time of diagnosis [3].

Burkitt lymphoma, a highly aggressive B-cell neoplasm, represents one of the most common subtypes of non-Hodgkin lymphoma (NHL) in children. The World Health Organization recognizes three clinical variants: endemic, sporadic, and immunodeficiency-associated [5]. The sporadic form, which occurs worldwide, most frequently involves the abdomen, typically affecting the ileocecal region. Primary involvement of the rectum is highly atypical [6].

The diagnostic workup for suspected colorectal lymphoma relies on a combination of imaging and histopathological confirmation. Endoscopic biopsy with immunohistochemical analysis remains the gold standard for diagnosis, allowing for accurate subtyping based on characteristic markers such as CD20, CD10, and the proliferation index Ki-67 [7].

Given the paucity of data on primary rectal Burkitt lymphoma in the pediatric population, each new case offers an opportunity to contribute to the collective understanding of its presentation, diagnostic challenges, and optimal management. We present a case of primary rectal Burkitt lymphoma in a 10-year-old boy who presented with isolated lower gastrointestinal bleeding.

Case Presentation

We present a 10-year-old Arab male who presented to our department with painless lower gastrointestinal bleeding as his only initial symptom. He reported passing bright red blood per rectum for approximately 3 weeks, occurring with most bowel movements. He had no history of abdominal pain, tenesmus, or change in stool caliber. He had no history of fever, night sweats, unexplained weight loss, coughing, swelling of the head or neck, dysphagia, or other systemic symptoms. His past medical history was unremarkable.

On admission, the child appeared well-nourished, cheerful, and cooperative. His vital signs were within normal limits for his age. Upon physical examination, there was no evidence of pallor, peripheral lymphadenopathy, hepatosplenomegaly, or a palpable abdominal mass. A digital rectal examination was performed, which revealed no palpable masses but did confirm the presence of fresh blood on the examining finger. The remainder of the general physical examination revealed no significant abnormalities.

Initial laboratory evaluation revealed the following: a complete blood count demonstrated low hemoglobin (9.9 g/dL) and microcytosis with a mean corpuscular volume of 70.64 fL, suggestive of iron deficiency anemia (though iron studies were not performed to confirm). The white blood cell count was mildly elevated at 12.5 × 10⁹/L, and the platelet count was normal. Serum lactate dehydrogenase level was markedly elevated at 850 U/L (reference range: 100–250 U/L). Additional laboratory tests, including uric acid, renal function, and liver function tests, were within normal limits.

Given the persistent bleeding and absence of an obvious benign cause, further imaging was pursued. A contrast-enhanced CT scan of the abdomen and pelvis demonstrated a thickened, nodular mass at the sigmoid-rectal junction, measuring approximately 8.3 × 6.7 × 6 cm, causing significant proximal colonic dilation. Despite this radiological finding, the patient denied any symptoms of obstruction, such as abdominal distension or vomiting. Multiple suspicious lymph nodes were noted in the surrounding mesorectal adipose tissue, with the largest measuring approximately 10 mm (Fig. 1). No abnormalities were detected in the head, neck, chest, or other abdominal organs. Abdominal ultrasonography was also unremarkable.

Fig. 1.

a Axial view shows rectal wall thickening with luminal narrowing and a heterogeneous soft tissue mass. Surrounding fat stranding suggests local invasion. b Coronal view shows a distended rectum with irregular wall thickening and soft tissue mass. Evidence of perirectal fat stranding and possible local invasion. c Sagittal view shows a 9.47-cm long segment of rectal wall thickening with intraluminal mass narrowing the rectal canal to 0.47 cm. Suggestive of extensive rectal lymphoma with significant luminal compromise.

Subsequently, the patient underwent lower gastrointestinal endoscopy under general anesthesia. This revealed multiple ulcerated colonic polyps and a friable, thickened mass wall extending approximately 10 cm within the rectum, from the anal verge proximally (Fig. 2). Based on these findings, multiple deep biopsies of the lesion were obtained.

Fig. 2.

a, b Colonoscopic views of the rectum. The images reveal multiple ulcerated polypoid lesions and a thickened, nodular rectal wall.

Histopathological analysis of the biopsy specimens confirmed the diagnosis of NHL, specifically Burkitt lymphoma, characterized by a diffuse infiltrate of medium-sized, monomorphic lymphoid cells with a “starry-sky” appearance. Immunohistochemical staining showed positive expression for leukocyte common antigen, CD20, and CD10, and was positive for CD3 (highlighting background T cells), and a high Ki-67 proliferation index (approaching 100%). Terminal deoxynucleotidyl transferase (TdT) and BCL2 were negative, confirming the diagnosis of sporadic Burkitt lymphoma and excluding other entities such as B-lymphoblastic lymphoma.

Following the diagnosis, the patient was referred to the pediatric oncology service for staging and treatment. A bone marrow aspiration and lumbar puncture were performed, both of which were negative for malignant cells, confirming the disease was localized to the rectum and regional lymph nodes (stage II).

The patient underwent risk-adapted chemotherapy based on the FAB/LMB 96 protocol, consisting of 6 cycles. Weight-based dosing was as follows: cyclophosphamide (300 mg/m²/dose), doxorubicin (40 mg/m²/dose), high-dose methotrexate (3 g/m²/dose with leucovorin rescue), dexamethasone (6 mg/m²/day), and vincristine (1.5 mg/m²/dose; maximum 2 mg). He also received intrathecal chemotherapy (methotrexate, cytarabine, and hydrocortisone) for central nervous system prophylaxis. This was followed by 10 sessions of consolidative radiotherapy (total dose: 24 Gy) to the primary tumor site, and argon plasma coagulation was applied as an adjunctive measure to enhance local chemotherapeutic response for residual mucosal disease.

A posttreatment CT scan with contrast, performed 1 month after completion of therapy, demonstrated complete restoration of normal rectal anatomy with no evidence of residual mass or lymphadenopathy (Fig. 3), indicating a favorable therapeutic response. At his most recent follow-up, 18 months post-diagnosis, the patient remains in complete remission, is asymptomatic, and has returned to all normal activities.

Fig. 3.

a Posttreatment CT (axial) resolution of rectal wall thickening with normalized rectal caliber. No residual mass or perirectal fat stranding observed, consistent with favorable treatment response. b Sagittal view shows normalized rectal contour and wall thickness. No evidence of residual mass or obstruction. Findings indicate a good response to treatment. c Coronal view demonstrates restored rectal anatomy with no visible residual mass or lymphadenopathy. Abdominal organs appear unremarkable. Findings consistent with complete treatment response.

Discussion and Conclusion

Primary rectal lymphomas are exceedingly rare in the pediatric population, with the present case adding to a limited body of literature comprising, to our knowledge, only 7 previously reported cases (including the 6 identified in our review and 1 additional case from 2002) [8–13]. While colorectal lymphomas are most frequently reported in older adults, typically between the ages of 55 and 75 years [7], their occurrence in children presents unique diagnostic and therapeutic considerations.

A synthesis of the reported pediatric cases (summarized in Table 1) reveals several important patterns. First, lower gastrointestinal bleeding is the predominant presenting symptom, occurring in 6 of the 7 documented cases (86%), including our patient [8–11, 13]. This consistent finding challenges the assertion in our initial abstract that this association is “uncommon”; rather, it appears to be the rule rather than the exception in this age group. Second, the clinical presentation can vary, with 1 case reporting nausea, vomiting, and diarrhea [12], and another describing hematochezia accompanied by transient rash and fever [13]. Third, and most critically, outcomes are generally favorable with appropriate therapy: 6 of the 7 patients achieved remission with chemotherapy-based regimens. The sole mortality, reported by Blanc et al. [14] in 2002, involved a child who died 8 months after symptom onset, underscoring that delayed diagnosis or extensive disease at presentation can adversely impact prognosis.

Table 1.

Literature review

Author (Year)	Age, years/Sex	Presentation	Diagnostic method	Immunophenotype	Treatment	Outcome (Follow-up)
Pais et al. [12] (1990)	10/M	Hematochezia, transient rash, fever	Endoscopic biopsy	CD20+, CD10+, surface Ig+	Chemotherapy (COMP regimen)	Remission (7 months)
Zhang et al. [10] (2003)	10/M	Intermittent rectal bleeding	Endoscopic polypectomy	CD20+, CD10+, CD43+, Ki-67 >95%, BCL2-	Chemotherapy (LMB-based protocol)	Remission (N/A)
Favini et al. [8] (2008)	9/M	Anal bleeding	Endoscopic biopsy	CD20+, CD79a+, Ki-67 >95%, BCL2-	Chemotherapy (AIEOP LNH-97 protocol)	Remission (N/A)
Gence et al. [9] (2008)	5/F	Intermittent fresh rectal bleeding after defecation	Endoscopic polypectomy	CD20+, CD10+, Ki-67 >95%	Chemotherapy (LMB-based protocol)	Remission (N/A)
Blanc et al. [14] (2002)	5/Unknown	Rectal bleeding, refractory constipation	Endoscopic biopsy	CD20+, CD10+, Ki-67 >95%	Chemotherapy	Died (8 months)
Winke et al. [11] (2024)	8/M	Nausea, vomiting, diarrhea	Digital rectal examination, then endoscopic biopsy	CD20+, CD10+, Ki-67 >95%, BCL2-, TdT-	Surgery (polypectomy) + Chemotherapy (LMB-based protocol)	Remission (4 years)
Current case (2026)	10/M	Painless lower GI bleeding	Endoscopic biopsy	CD20+, CD10+, LCA+, Ki-67 ∼100%, CD3+, BCL2-, TdT-	Chemotherapy (FAB/LMB 96) + Radiotherapy + APC	Remission (18 months)

The diagnostic criteria for primary intestinal lymphoma, originally proposed by Dawson et al. [15], remain clinically relevant. These include the following: absence of peripheral lymphadenopathy, normal chest radiography, unremarkable complete blood count (apart from findings related to bleeding), predominant involvement of the bowel at laparotomy or on imaging, and no evidence of liver or splenic involvement. Our case fulfilled all these criteria, with disease confined to the rectum and regional mesorectal lymph nodes, further supporting the diagnosis of primary rectal lymphoma.

The diagnostic pathway in our case underscores several key lessons for clinicians. When a child presents with persistent rectal bleeding, especially in the absence of obvious benign causes such as anal fissures or constipation-related trauma, a low threshold for further investigation is warranted [14]. This evaluation should begin with a digital rectal examination – a simple, inexpensive, but often omitted maneuver – followed by endoscopic evaluation, including rectoscopy or colonoscopy, which can both visualize the lesion and obtain tissue for diagnosis [16]. In all previously reported pediatric cases, endoscopic evaluation was instrumental in securing the diagnosis, either through biopsy or polypectomy.

Endoscopic findings in primary rectal lymphoma are variable but characteristic, ranging from mucosal nodularity and induration to frank ulceration and the presence of a distinct mass [16–18]. In our patient, colonoscopy revealed multiple ulcerated polyps and a diffusely thickened, friable rectal wall, findings that should raise suspicion for lymphoma in the appropriate clinical context.

Histopathological confirmation with immunohistochemistry remains the cornerstone of diagnosis. The “starry-sky” appearance on routine histology, combined with a characteristic immunophenotype (CD20+, CD10+, BCL2-, and TdT-) and a Ki-67 proliferation index approaching 100%, is pathognomonic for sporadic Burkitt lymphoma [5, 6]. These features were all present in our case, allowing for accurate subtyping and appropriate risk-stratified treatment.

Management of primary colorectal lymphoma in children must be individualized, taking into account both the histologic subtype and the anatomic extent of disease. For aggressive lymphomas such as Burkitt lymphoma, systemic combination chemotherapy remains the mainstay of treatment [4]. The excellent outcome in our patient, who achieved complete remission with a standard pediatric NHL protocol (based on the FAB/LMB 96 regimen), is consistent with the broader literature demonstrating that these lymphomas are highly curable when treated promptly with risk-adapted chemotherapy. The role of surgery is generally reserved for management of complications such as obstruction, perforation, or intussusception, rather than as a primary therapeutic modality [4]. Similarly, radiotherapy is used selectively, typically for consolidation in cases with bulky disease or suboptimal response to chemotherapy, as was the case in our patient. A multidisciplinary approach, integrating pediatric oncologists, gastroenterologists, radiologists, and surgeons, is essential to optimize outcomes [4].

This report has several limitations. As a single case report, it cannot provide definitive guidance on management. The relatively short follow-up period (18 months) precludes assessment of long-term outcomes, including the risk of late relapse or treatment-related complications. Furthermore, while our histopathological and immunohistochemical analysis was diagnostic for sporadic Burkitt lymphoma, we did not perform MYC fluorescence in situ hybridization testing or Epstein-Barr virus-encoded small RNA in situ hybridization, which could have provided additional confirmatory and subclassification data. Additionally, while we have attempted to synthesize the available literature, the small number of cases and variability in reporting across studies limit the strength of any conclusions that can be drawn.

In conclusion, this case highlights an important diagnostic consideration in children presenting with unexplained rectal bleeding: primary rectal Burkitt lymphoma. While rare, this entity should be included in the differential diagnosis, particularly when bleeding is persistent and not attributable to common benign causes. The diagnostic workup should proceed in a stepwise fashion, from digital rectal examination to endoscopic evaluation with biopsy, enabling timely histopathological diagnosis and appropriate referral to pediatric oncology. Our patient’s excellent response to risk-adapted chemotherapy reinforces the principle that, even for aggressive lymphomas, prompt diagnosis and adherence to evidence-based treatment protocols can lead to favorable outcomes. This case adds to the limited literature on pediatric primary rectal lymphoma and may assist clinicians in recognizing and managing similar presentations in the future.

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 legal guardian 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/10.1159/000552392).

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

Mohammad Jouby and Isel Hiba were the major contributors to writing the manuscript. Mohmad Debbana and Ahmad Al-Bitar were the minor contributors to writing the manuscript. Jaber Mahmod 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.