Patients with hematologic malignancy who undergo bone marrow transplantation may develop various gastrointestinal (GI) tract system disturbances. Symptoms may include nausea, vomiting, abdominal pain, and diarrhea. In patients with diarrhea and findings of colitis, the differential diagnosis should include infection (bacterial, viral, and parasitic), acute or chronic graft-vs-host disease, medication side effects, and cancer relapse. We present a case of relapsed acute myeloid leukemia (AML) after bone marrow transplantation with GI tract manifestations.
A 36-year-old white woman presented to the emergency department with abdominal pain and nonmucous, nonbloody diarrhea of 1-week duration. Her medical history was significant for AML status postallogeneic hematopoietic stem cell transplant 2 years earlier, which was complicated by chronic graft-vs-host disease involving the skin, liver, and eyes. Her medications included prednisone 20 mg per day, sirolimus, mycophenolate mofetil, and ibrutinib. She denied any fever, chills, or sick contacts. Physical examination was pertinent for mild abdominal distention with generalized tenderness to deep palpation.
Abdominal and pelvic computed tomography with intravenous contrast did not show any mass or lymphadenopathy but was worrisome for new ascites, along with increased edema and wall thickening involving the ascending colon and proximal transverse colon (Figure 1). Thus, she was admitted for further evaluation. On admission, her hemoglobin was 7.3 g/dL and her white blood cell count was 12,400 cells/mL3 without blast cells. Because of her immunocompromised status and colon wall thickening, colonoscopy revealed an ulcerated, friable mass with contact bleeding from the cecum to the midtransverse colon (Figure 2). Biopsies of the mass showed prominent diffuse proliferation composed of large immature cells with delicate chromatin and prominent nucleoli with frequent mitotic figures (Figure 3). Immunohistochemistry stains were positive for CD34 and myeloperoxidase and negative for PAX5 and CD3 findings compatible with myeloid sarcoma (MS).
Bone marrow biopsy showed a hypocellular marrow with no morphologic evidence of acute leukemia. However, ascites fluid cytology showed the presence of blast cells, with immunohistochemistry stains positive for CD7, CD33, CD34, CD38, CD71, CD117, and CD123 compatible with AML.
After a multidisciplinary team discussion, given that her extramedullary relapse of AML conferred a poor prognosis, the patient was transitioned to hospice care and died 1 month later.
MS, also known as granulocytic sarcoma or chloroma, is an extramedullary tumor of immature granulocytic cells with an incidence of 2%–9% in patients with AML. In addition to AML, MS is also associated with myeloproliferative neoplasms, myelodysplastic syndrome, blast phase of chronic myeloid leukemia, and, in rare cases, in nonleukemic patients (primary or isolated MS).1
MS can occur at any age and has a slightly higher male predominance. It can involve any site of the body with the most common sites being lymphatic nodes, skin and soft tissues, testes, bone, and the peritoneum. The GI tract can be involved in approximately 10% of cases.2 Colorectal MS is very rare with less than 20 reported cases in the literature.3 Clinical presentations of MS in the GI tract are varied, ranging from asymptomatic to abdominal pain and constipation, bowel intussusception, hemorrhage, or diarrhea, as in our case.3–5 The diagnosis requires a high index of suspicion because radiographic and endoscopic findings are nonspecific, including peritoneal or mesenteric infiltration on computed tomography scan and nodularity, friability, and focal ulceration on endoscopy. This commonly results in misdiagnosis in up to 25%–47% of patients because of inadequate immunophenotyping of the underlying MS lesion.1
Confirmation of the diagnosis is based on histology and immunohistochemistry profiling, including positive staining for myeloperoxidase, CD43, CD68, lysozyme, and CD117. Every patient diagnosed with MS should undergo a bone marrow biopsy to differentiate isolated MS from other forms of myeloid neoplasms, including AML or chronic myeloid leukemia, which have different management and prognosis.1
Treatment options depend on the tumor site and size, patient's age, performance status, and previous treatment for AML (if any). First-line treatment for MS is chemotherapy which could lead to complete remission in up to 65% of patients.1 Appropriate patients should undergo evaluation for bone marrow transplantation. In addition to systemic chemotherapy, local therapy, including debulking surgery and/or radiotherapy, could also be offered to select patients who are symptomatic because of the mass effects of the lesions.1 The prognosis for patients with MS is poor, with a median overall survival of 8 months. Interestingly though, a retrospective population-based study showed that patients with AML who had MS had a higher survival rate than patients with AML without MS.2
Colonic MS, although rare, should be on the differential diagnosis in patients with a history of hematologic malignancy presenting with GI symptoms and abnormal endoscopic or radiographic findings of the colon. Confirmation of the diagnosis requires histology with specific immunohistochemistry. Once the diagnosis is confirmed, the patient should be referred back to hematologist/oncologist for further management and treatment.
Author contributions: P. Phatharacharukul wrote the manuscript. N. Fayad and R. Siwiec edited the manuscript. R. Siwiec is the article guarantor.
Financial disclosure: None to report.
Previous presentation: This case was presented at the American College of Gastroenterology Annual Scientific Meeting; October 5–10, 2018; Philadelphia, Pennsylvania.
Informed consent was obtained for this case report.
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