Inflammatory myofibroblastic tumour of the rectum with a novel anaplastic lymphoma kinase fusion diagnosed on cytology: Not just another submucosal gastrointestinal stromal tumour!

Logaswari, M; Lim, Kiat Hon; Tan, Damien Meng Yew; Ong, Chin-Ann Johnny; Sittampalam, Kesavan

doi:10.1111/cyt.13108

Cited by 4 publications

(3 citation statements)

References 18 publications

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“…It consists of N-terminal 4 tandemly repeated RNA recognition motifs, which bind to a 3′ poly adenylate [poly(A)] tail of mRNA, followed by a linker region and a conserved C-terminal MLLE domain. So far, only 2 research groups recently reported PABPC1 as the new fusion pattern for ALK ( PABPC1 :: ALK ) in ALK-positive ALCL and inflammatory myofibroblastic tumor, respectively 14,15 . This translocation t(2;8) in both cases occurred when exon 9 of PABPC1 was juxtaposed to exon 20 of ALK , similar to that identified in this case.…”

Section: Discussionsupporting

confidence: 75%

“…So far, only 2 research groups recently reported PABPC1 as the new fusion pattern for ALK (PABPC1::ALK) in ALK-positive ALCL and inflammatory myofibroblastic tumor, respectively. 14,15 This translocation t(2;8) in both cases occurred when exon 9 of PABPC1 was juxtaposed to exon 20 of ALK, similar to that identified in this case. Interestingly, overexpression of PABPC1::ALK in murine Ba/F3 cells conferred cytokine-independent proliferation, analogous to that induced by NPM1::ALK fusion protein.…”

Section: Discussionsupporting

confidence: 69%

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ALK-positive Large B-Cell Lymphoma With Multiple Epithelial Antigen Expression and PABPC1::ALK Fusion

Seth

Ali

et al. 2023

American Journal of Surgical Pathology

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Anaplastic lymphoma kinase (ALK)-positive large B-cell lymphoma (LBCL) is a very rare type of LBCL with an aggressive clinical course and poor prognosis. This diagnosis can be challenging given the varied morphology (immunoblastic, plasmablastic, or anaplastic), frequent lack of B-cell antigens, and especially in cases with expression of epithelial antigens. Here, we report a case of ALK-positive LBCL with unusual expression of 4 epithelial-associated markers (AE1/AE3, CK8/18, EMA, and GATA3) and novel poly(A) binding protein cytoplasmic 1 (PABPC1)::ALK fusion which has not been previously reported in this entity. This case also emphasizes the use of comprehensive immunophenotyping that includes multiple lineage-specific antibodies when faced with a malignancy without a clear differentiation to avoid misdiagnosis. This case only achieved partial response to combination chemotherapy, radiation, and ALK inhibitor regimens, and furthers our understanding of this uncommon lymphoma.

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Section: Discussionsupporting

confidence: 75%

Section: Discussionsupporting

confidence: 69%

ALK-positive Large B-Cell Lymphoma With Multiple Epithelial Antigen Expression and PABPC1::ALK Fusion

Seth

Ali

et al. 2023

American Journal of Surgical Pathology

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“…Nearly half of IMTs exhibit clonal abnormalities, which overexpress ALK, suggesting a neoplastic cause. The ALK positivity was correlated with local recurrence, but not distant metastasis (14)(15)(16). Generally, IMTs can occur anywhere in the body, with the lungs being the most common site of IMT.…”

Section: Introductionmentioning

confidence: 99%

Multidetector Computed Tomography Imaging Features of Inflammatory Myofibroblastic Tumors of the Gastrointestinal Tract in Adults: Radiological, Histopathological, and Immunohistochemical Features

et al. 2023

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Background: Inflammatory myofibroblastic tumors (IMTs) of the gastrointestinal (GI) tract are rare phenomena, and the computed tomography (CT) findings of GI IMTs are not well-established. Objectives: To describe the characteristics of CT scans, pathological specimens, and histological subtypes of GI IMTs in adults. Patients and Methods: The multidetector computed tomography (MDCT) scans of 11 adult patients (8 males, 3 females; age range, 19 - 76 years) with pathologically proven GI tract IMTs (stomach, small bowel, and colon) were retrospectively evaluated by two abdominal radiologists. The radiological features of IMTs were investigated. The imaging features were correlated with three microscopic IMT subtypes (myxoid vascular, spindle cell, and hypocellular fibrous). Immunohistochemistry was also performed on the specimens, including smooth muscle actin (SMA), vimentin, desmin, S-100, and anaplastic lymphoma kinase. Results: The tumor size ranged from 1.4 to 15 cm (mean, 5.7 cm). Two growth patterns were classified, namely, wall-thickening (n = 3) and solitary mass-forming (n = 8) patterns; each pattern was matched with a characteristic pathological subtype. All solitary, well-circumscribed masses corresponded to the spindle cell type. Low-attenuation wall thickening with perienteric infiltration was observed in three patients with a wall-thickening pattern. All solitary, well-circumscribed masses (n = 8) showed homogeneous enhancement with variable internal low attenuation, correlated with cystic degeneration, necrosis, myxoid change (n = 6), and hemorrhagic necrosis (n = 2). No patient showed bowel obstruction, while one patient showed regional lymphadenopathy. Immunophenotypes were not correlated with any growth pattern or histological subtype. Conclusion: The GI IMTs can be classified into two patterns, including wall-thickening and well-circumscribed masses, each matched with a characteristic pathological subtype, which can help explain the tumor behavior. Concomitant CT findings may also provide diagnostic clues for IMT.

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Inflammatory Myofibroblastic Tumor of the Anus: A Case Report

Takayama,

Nakame,

Suzuki

et al. 2024

J Anus Rectum Colon

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Inflammatory myofibroblastic tumors (IMTs) are neoplastic lesions characterized by the proliferation of spindle cells with myofibroblastic features and lymphocyte infiltration. Primary lesions can develop in several locations but rarely arise in the colon as described herein. The present case was that of a 69-year-old woman who visited our hospital with complaints of bloody bowel discharge and a prolapsed mass from the anus. A 20-mm tumor was identified on visual and digital examination. Lower gastrointestinal endoscopy revealed a pedunculated, elevated lesion above the dentate line, which showed contrast enhancement on abdominal computed tomography. The patient was preoperatively diagnosed with an anal polyp, which was resected transanally. During the procedure, a mobile tumor coated by anal epithelium was observed at the 11 o'clock position above the dentate line. Deeper parts of the tumor were contiguous with the internal anal sphincter (IAS) muscle. Suspecting a neoplastic lesion, we resected the mass en bloc with part of the IAS. Tumor histopathology after surgery led to a final diagnosis of an IMT of the anus. IMT is difficult to diagnose preoperatively. No adjuvant therapy has been formally established; thus, an adequate surgical margin and close monitoring are essential.

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Inflammatory myofibroblastic tumour of the rectum with a novel anaplastic lymphoma kinase fusion diagnosed on cytology: Not just another submucosal gastrointestinal stromal tumour!

Cited by 4 publications

References 18 publications

ALK-positive Large B-Cell Lymphoma With Multiple Epithelial Antigen Expression and PABPC1::ALK Fusion

ALK-positive Large B-Cell Lymphoma With Multiple Epithelial Antigen Expression and PABPC1::ALK Fusion

Multidetector Computed Tomography Imaging Features of Inflammatory Myofibroblastic Tumors of the Gastrointestinal Tract in Adults: Radiological, Histopathological, and Immunohistochemical Features

Inflammatory Myofibroblastic Tumor of the Anus: A Case Report

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