Journal of Cancer Research and Therapeutics

: 2021  |  Volume : 17  |  Issue : 1  |  Page : 269--271

Synchronous occurrence of myelodysplastic syndrome and a bleeding jejunal gastrointestinal stromal tumor in a patient with obscure gastrointestinal bleed

Bharadhwaj Ravindhran1, H Harish Kumar2, GC Raghunandan2, Rakesh Ramesh2,  
1 Department of Surgery, St. John's Medical College Hospital, Bengaluru, Karnataka, India
2 Department of Surgical Oncology, St. John's Medical College Hospital, Bengaluru, Karnataka, India

Correspondence Address:
Bharadhwaj Ravindhran
Department of Surgery, St. John's Medical College Hospital, Sarjapur Road, John Nagar, Bengaluru - 560 034, Karnataka


The coexistence of gastrointestinal (GI) stromal tumors (GISTs) and other malignancies, both synchronous or metachronous, has been discussed extensively in literature. It has also been described that the frequency of malignancies among patients with GIST is significantly higher than that in the general population. We present a case report of a patient with synchronous occurrence of myelodysplastic syndrome (MDS) and a GIST who presented with chronic fatigue and an episode of syncope and was found to have obscure GI bleed. Laboratory investigations revealed severe anemia, marrow picture was suggestive of MDS, and magnetic resonance imaging of the abdomen revealed a proximal small bowel neoplasm. She underwent resection of the diseased segment and anastomosis. The histopathology of the specimen confirmed the diagnosis of a GIST arising from the jejunum. She was started on imatinib on postoperative day 21 and is presently well preserved and on regular follow-up. The possibility of small bowel neoplasm, especially GIST, must be considered in patients diagnosed with chronic anemia secondary to obscure GI bleed and the possibility of a synchronous GIST, although uncommon must be considered in patients with myeloproliferative disorders and leukemia.

How to cite this article:
Ravindhran B, Kumar H H, Raghunandan G C, Ramesh R. Synchronous occurrence of myelodysplastic syndrome and a bleeding jejunal gastrointestinal stromal tumor in a patient with obscure gastrointestinal bleed.J Can Res Ther 2021;17:269-271

How to cite this URL:
Ravindhran B, Kumar H H, Raghunandan G C, Ramesh R. Synchronous occurrence of myelodysplastic syndrome and a bleeding jejunal gastrointestinal stromal tumor in a patient with obscure gastrointestinal bleed. J Can Res Ther [serial online] 2021 [cited 2021 May 6 ];17:269-271
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Full Text


Gastrointestinal (GI) stromal tumors (GISTs) are tumors of the GI tract which may be classified as benign, borderline, or malignant. GISTs arise predominantly in the stomach (60%), small intestine (30%), and colorectum (10%).[1] Coexistence of GIST with other malignancies has been discussed extensively.[2],[3] To the best of our knowledge, this study is the first to report the synchronous development of a CD117-positive GIST and myelodysplastic syndrome (MDS) in India.

 Case Report

A 62-year-old hypertensive female patient presented to our outpatient department with a history of fatigue for 3 years and an episode of syncope the previous afternoon. Physical examination of the patient revealed pallor and was otherwise unremarkable. On further evaluation, her blood investigations revealed severe anemia and were otherwise within normal limits. Her electrocardiography, magnetic resonance imaging (MRI) brain, echocardiography, abdominal and pelvic ultrasound, and carotid and vertebral Doppler were also normal. Her hemoglobin (Hb) was 6.9, total white blood cell counts were 11,200, erythrocyte sedimentation rate was 125, and platelet counts were 2.9 lakhs. Peripheral smear revealed a normocytic hypochromic picture, and her iron panel showed serum iron levels of 34 μg/dl, ferritin of 12.8 ng/ml, percent saturation of 11.1, Vitamin B12 levels of 214 ng/ml, and a positive fecal occult blood test. Her Coombs test and assays for paroxysmal nocturnal hemoglobinuria were negative, and Hb high-performance liquid chromatography was normal. Her bone marrow analysis revealed a cellular marrow with erythroid hyperplasia with 5.5% blasts with dysplasia which was suggestive of a myelodysplastic disorder, and flow cytometry of the abnormal cells was negative for markers such as CD117. Fluorescence in situ hybridization analysis of the MDS panel was negative for chromosomal aberrations.

She was further investigated for occult bleeding in stool and therefore underwent esophagoduodenoscopy and colonoscopy, which did not reveal any erosions, polyps or diverticulae, malignancy, or features of inflammatory bowel disease. She was then planned to undergo contrast-enhanced computed tomography scans; however, due to contrast allergy, she underwent an MRI of the abdomen which revealed a heterogeneously enhancing T2-hyperintense lesion with a central hypointense area arising from the proximal small bowel measuring 11.3 cm × 6.5 cm × 9.5 cm causing aneurysmal dilatation. The lesion was also seen to show layering within showing differential intensity. Areas of necrosis were seen to have foci with restriction of diffusion. There was no proximal small bowel dilatation [Figure 1].{Figure 1}

The possibility of a bleeding tumor from the small bowel was considered, and the patient was scheduled for laparotomy after optimization of Hb with packed red blood cell transfusion. She was seen to have a 10 cm × 7 cm lobulated tumor arising from the wall of the jejunum 7 cm from the duodenojejunal flexure. There were no metastatic deposits on the omentum, liver, or peritoneum. The diseased jejunal segment [Figure 2] which was 17 cm in length was resected, and anastomosis was performed.{Figure 2}

The histopathology of the specimen revealed unifocal tumor of size 8.5 cm × 7.5 cm × 5 cm with a histological grade of G2 and a mitotic rate of >5/50 per hpf with areas of necrosis. Six mesenteric nodes were sampled and all were free of tumor; the proximal and distal margins were also free of tumor. The neoplasm was positive for CD117 (3+, 90%), CD34 (3+, 40%–50%), vimentin (3+, 90%), and smooth muscle actin (3+, 80%). The Ki-67 proliferation index was 30%. The pathological stage was, therefore, pT3N0Mx [Figure 3].{Figure 3}

Her postoperative course was uneventful and she was started on imatinib 3 weeks after surgery with a strict monitoring of blood counts. The patient at present is well preserved with Hb of 9.6 g/dl and did not any more undergo blood transfusions.


Synchronous or metachronous coexistence of GISTs with other malignancies such as liver and pancreatic tumors and lymphoma has been discussed extensively.[2],[3] The most common second neoplasms are neoplasms derived from lymphoid tissue, colorectal cancer, and prostate cancer. Kalmár et al. described that the frequency of malignancies among patients with GIST is significantly higher than that in the general population.[4] Few authors have suggested that there is no relationship between the development of GIST and other malignancies and their coexistence is only coincidental.[5],[6] Thus far, two cases of synchronous development of GIST and acute myeloid leukemia (AML) have been reported in the literature.[7],[8] Sonmez et al. reported a case of AML that was diagnosed following a GIST. The patient was diagnosed to have refractory anemia 2 years after the surgery for the GIST.[9] AML was considered to be the second malignancy in this study which was reported a year after the diagnosis of MDS. However, in our case, a patient with synchronous occurrence of MDS and GIST has been reported.

An underlying genetic instability may have led to both diseases. It has been postulated that the KIT ligand detected in GIST patients has a humoral effect on bone marrow precursors, leading to myeloproliferation which may have led to the MDS. Hematopoietic progenitor cells are dependent on the KIT-signaling pathway similar to GISTs and many myeloid leukemias also have KIT-activating mutations similar to the KIT mutations noted in GISTs. In our patient, synchronous occurrence of a MDS and GIST could be explained by these mechanisms inducing genetic instability.[10],[11]

The expression of CD117 is the key immunohistochemical feature of GISTs which is widely expressed in the cytoplasm and cytomembrane of tumor cells (95%). CD117 is widely distributed in hematopoietic cells and other tissue cells. CD117 is recognized as a highly sensitive and specific marker for GISTs and is also an important pathogenic factor in MDSs and AML. Previous studies have demonstrated that CD117 is expressed in 68% of patients with AML and 80% of patients with chronic myeloid leukemia in the blast phase but in only 2% of patients with acute lymphoid leukemia.[12] In our case, the bone marrow smears did not show positivity for CD117 or CD34 unlike the cases described in literature. The patient did not report any symptoms pointing toward an abdominal tumor such as pain, vomiting, constipation, hematemesis, melena, or distension which may have delayed her presentation to our outpatient department in spite of experiencing nonspecific symptoms for 3 years.

The possibility of small bowel neoplasms, especially GIST, must be considered in patients with chronic anemia secondary to obscure GI bleed. Patients diagnosed to have GIST must be screened for leukemia and other malignancies at regular intervals due to proven coexistence.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.


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