FGFR1 translocation with concurrent myeloproliferative neoplasm, systemic mastocytosis, and lymphoblastic lymphoma: a case report

Chang, Koping; Liu, Jia-Hau; Yu, Shan–Chi; Lin, Chien‐Ming

doi:10.1016/j.humpath.2017.10.019

Cited by 9 publications

(6 citation statements)

References 9 publications

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“…In cases presenting as acute leukemia, the blasts can be of lymphoid, myeloid, or ambiguous lineage [2]; however, to our knowledge, pure erythroid leukemia/erythroblastic sarcoma has not been previously reported. The most common translocation in MLN-FGFR1, accounting for approximately 50% of cases, is t(8;13)(p11;q12) leading to fusion of the FGFR1 gene to ZMYM2 (also previously known as ZNF198) [7,8]. Chromosome analysis in our patient revealed this common translocation.…”

Section: Discussionmentioning

confidence: 52%

Erythroblastic sarcoma transformation from a chronic myeloid neoplasm with FGFR1 rearrangement presenting as a pleural effusion: a case report

et al. 2021

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Myeloid/lymphoid neoplasms with FGFR1 rearrangement (MLN-FGFR1) comprise a heterogeneous group of neoplasms that can present as a myeloproliferative neoplasm, a myelodysplastic/myeloproliferative neoplasm, acute myeloid leukemia, T or B lymphoblastic leukemia/lymphoma, or mixed phenotype acute leukemia. The overall outcome of these neoplasms is poor, and these patients often show cytogenetic evolution with gain of additional chromosomal abnormalities leading to transformation to acute leukemia. Pure erythroid leukemia and erythroblastic sarcoma evolving from a preexisting chronic myeloid neoplasm have rarely been described; however, this has not been reported in MLN-FGFR1. Herein we describe a biopsy-proven chronic myeloid neoplasm with FGFR1 rearrangement with transformation to erythroblastic sarcoma presenting as a pleural effusion.

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Section: Discussionmentioning

confidence: 52%

Erythroblastic sarcoma transformation from a chronic myeloid neoplasm with FGFR1 rearrangement presenting as a pleural effusion: a case report

et al. 2021

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“…To our knowledge, this is the first report describing ALK-TPM3 fusions in 2 distinct tumors. To date, this phenomenon has only been described in malignancies with a common precursor 6 . We presume a putative fragile site/sequence similarity predisposing to translocation events.…”

Section: Discussionmentioning

confidence: 88%

“…To date, this phenomenon has only been described in malignancies with a common precursor. 6 We presume a putative fragile site/sequence similarity predisposing to translocation events. Patients with ALK-TPM3 fusions, either Spitz or C-ALCL, appear to be at increased risk of developing multiple tumors driven by this oncogenic translocation.…”

Section: Discussionmentioning

confidence: 99%

Corresponding anaplastic lymphoma kinase–tropomyosin 3 (ALK-TPM3) fusion in a patient with a primary cutaneous anaplastic large-cell lymphoma and a Spitz nevus

et al. 2019

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“…[13][14][15] SM is rare, with only 3 cases reported in Taiwan. [16][17][18] The incidence of MC malignancies in Asian/Pacific Islander is significantly lower than that in Caucasian in the United States. 19 Because the racial disparities may exist and the reports of the clinical impact and incidence of CD30 and CD123 expressions in mastocytosis are varied, additional research in Asia-Pacific populations is necessary.…”

mentioning

confidence: 99%

“…SM is rare, with only 3 cases reported in Taiwan 16–18. The incidence of MC malignancies in Asian/Pacific Islander is significantly lower than that in Caucasian in the United States 19.…”

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confidence: 99%

The Expressions of CD30 and CD123 of Mastocytosis in Taiwan

Yang

Hsu

2021

Applied Immunohistochemistry &Amp; Molecular Morphology

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Mastocytosis is a rare disease with a low incidence in Asia-Pacific populations. CD30 and CD123 may have potential prognostic and therapeutic value, but the results are inconsistent. Because racial disparities may exist, we aim to evaluate the expressions of CD30 and CD123 in a series of mastocytosis cases in Taiwan. Twelve patients with systemic and 7 with cutaneous forms of mastocytosis were studied. The expressions of CD30 and CD123 were correlated with the clinical features of the patients. Eighty-three percent (10/12) of patients with systemic mastocytosis (SM) had an associated hematological neoplasm. Four of the SM patients had both "B" and "C" findings, and they had a median survival time of 0.9 months. CD30 expression was positive in 50% (6/12) of SM cases and 100% (6/6) of cutaneous mastocytosis cases. CD123 was expressed focally or weakly in only 2 SM-associated hematological neoplasm cases. The distribution of mastocytosis subtypes and the expression of CD30 and CD123 in Taiwan differed from those reported in North America and Europe. However, mastocytosis, especially indolent forms, is easily overlooked as its heterogeneous and nonspecific clinical manifestations. A high index of suspicion and improved diagnostic methods can be helpful.

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FGFR1 translocation with concurrent myeloproliferative neoplasm, systemic mastocytosis, and lymphoblastic lymphoma: a case report

Cited by 9 publications

References 9 publications

Erythroblastic sarcoma transformation from a chronic myeloid neoplasm with FGFR1 rearrangement presenting as a pleural effusion: a case report

Erythroblastic sarcoma transformation from a chronic myeloid neoplasm with FGFR1 rearrangement presenting as a pleural effusion: a case report

Corresponding anaplastic lymphoma kinase–tropomyosin 3 (ALK-TPM3) fusion in a patient with a primary cutaneous anaplastic large-cell lymphoma and a Spitz nevus

The Expressions of CD30 and CD123 of Mastocytosis in Taiwan

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