A Rare Case of Pure Erythroid Sarcoma in a Pediatric Patient: Case Report and Literature Review

Manresa, Pablo Manresa; Tarín, Fabián; Niveiro, M.; Tasso, M.; Alda, O.; López, Francisco; Sarmiento, Hector L; Verdú, José; Paz, Francisco de; López, Silvia; Cañizo, María del Consuelo del; Such, Esperanza; Barragán, Eva; Martirena, Fernanda

doi:10.3390/children4120113

Cited by 10 publications

(10 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It has a dismal prognosis. To the best of our knowledge, around a dozen cases of ES have been presented in the english literature so far, 2‐9 but none as a pleural effusion, as reported in this case. One case was diagnosed by cytologic examination of bronchoalveolar lavage fluid, 6 three pediatric cases appeared as two ocular masses 3,8 and one ovarian mass 7 ; other adult cases were one spleen mass, 2 two cases as lymphadenopathy, 5,9 and the remainder as osteolytic masses 2,4 …”

Section: Introductionmentioning

confidence: 66%

Erythroblastic sarcoma presenting as a unilateral pleural effusion in a patient with myelodysplastic syndrome/myeloproliferative neoplasm—Case report with cytologic and histologic findings

Radulović

Melkić

Kuzmanov

et al. 2020

Diagnostic Cytopathology

View full text Add to dashboard Cite

Erythroblastic sarcoma (ES) is an extremely rare extramedullary solid tumor of immature erythroid cells, with around a dozen human cases to our knowledge presented so far in the english literature, none of the cases presenting as pleural effusion. Here we describe a case of ES in a thoracic wall diagnosed by cytological examination of pleural effusion with histologic correlation in a 53-year-old patient with a 10month history of myelodysplastic syndrome/myeloproliferative neoplasm with grade III reticulin myelofibrosis.

show abstract

Section: Introductionmentioning

confidence: 66%

Erythroblastic sarcoma presenting as a unilateral pleural effusion in a patient with myelodysplastic syndrome/myeloproliferative neoplasm—Case report with cytologic and histologic findings

Radulović

Melkić

Kuzmanov

et al. 2020

Diagnostic Cytopathology

View full text Add to dashboard Cite

show abstract

“…Cases with megakaryoblastic differentiation often mimic small round blue cell tumors, especially in pediatric patients with t(1; 22) (p13.3; q13.1); however, they are positive for CD41, CD42, and CD61 [36,37]. The rare erythroid cases are positive for glycophorin A and C, as well as hemoglobin A and CD71 [10]. In our study, viable and sufficient tissue samples were obtained for FCI in all 15 cases and detected an abnormal myeloid or monocytic population effectively excluding all other entities in the differential diagnosis, thus avoiding the need for extensive and laborious IHC panels.…”

Section: Discussionmentioning

confidence: 99%

“…Instead, they express histiocytic/monocytic markers such as CD68-KP1, CD4, lysozyme, and CD163 [8]. In addition to monocytic, MS with predominant or exclusive erythroid, megakaryocytic, and even trilineage differentiation have been described [9][10][11][12][13], and in all such cases, the neoplastic cells are morphologically and immunophenotypically analogous to their leukemic counterparts. Given this vast morphologic heterogeneity, immunophenotypic variability, overlap with other entities, and the overall rarity of the condition, MS remains a challenging diagnosis, especially in small biopsy specimens.…”

Section: Introductionmentioning

confidence: 99%

Myeloid Sarcoma: Features in Cytological Preparations and the Utility of Rapid On-Site Evaluation (ROSE) in Triage

2022

View full text Add to dashboard Cite

Introduction: Myeloid sarcoma (MS) is a rare extramedullary tumor consisting of blasts of granulocytic, monocytic, erythroid, or megakaryocytic lineage that disrupts the architecture of the involved tissue. MS shows vast clinical, morphologic, immunophenotypic, and genetic heterogeneity posing a diagnostic dilemma, especially in small biopsy specimens such as fine-needle aspiration (FNA) and core biopsy. The objective of this study is to highlight the morphologic features of MS in cytological preparations and investigate the efficacy of pathologist-performed rapid on-site evaluation (ROSE) in assuring accurate triage. Methods: A retrospective review was performed for cases of MS with concurrent cytology and ROSE results from 2006 to 2017. FNA smears and touch preparations were reviewed, and the results of ROSE, immunohistochemistry (IHC), flow cytometric immunophenotyping (FCI), cytogenetics/FISH, and histology were analyzed. Results: A total of 15 cases were found including 6 (40%) with monocytic morphology comprising promonocytes and monoblasts and 9 (60%) with conventional myeloblastic morphology. The most common genetic subgroup was KMT2A-rearranged MS (33.3%) followed by extramedullary blast crisis of chronic myeloid leukemia (26.6%). ROSE provided sufficient preliminary information and ensured the procurement of adequate tissue for histology, IHCs, FCI, and cytogenetics/FISH, leading to an accurate and complete diagnosis of MS in all cases. Discussion/Conclusion: MS is a rare malignancy that shows pronounced clinical, morphologic, immunophenotypic, and genetic heterogeneity that often overlaps with other neoplastic and non-neoplastic entities. Features including the presence of classic myeloblasts, promonocytes, monoblasts, nucleated red blood cells, left-shifted granulocytes, cytoplasmic granules, and pseudopods are helpful hints in cytological preparations. In the modern era where pathologists are increasingly expected to do extensive diagnostic, molecular, and therapeutic biomarker testing on tissue that is historically diminishing in size, ROSE is a highly effective tool to ensure effective triage of MS aiding in an accurate, timely, and complete diagnosis.

show abstract

“…Erythroid sarcoma (ES) is an extremely rare subtype of myeloid sarcoma (MS) in children. 1– 4 Due to the rarity of ES in childhood, genetic studies of such cases are scarce 5–10 …”

Section: Introductionmentioning

confidence: 99%

Identification of RCC1–LCK as a novel fusion gene in pediatric erythroid sarcoma

Oya

Osone

Yoshida

et al. 2022

Pediatric Blood & Cancer

View full text Add to dashboard Cite

Erythroid sarcoma is a very rare subtype of myeloid sarcoma with undetermined biological features. Here, we present an infant with a multifocal erythroid sarcoma, diagnosed because the tumor cells were positive for glycophorin A. After acute myeloid leukemia-oriented chemotherapy and surgical resection followed by cord blood transplantation, he has successfully maintained complete remission without any late effects.Total transcriptome analysis of the tumor identified a novel fusion gene, RCC1-LCK, and high LCK expression levels, suggesting that LCK overexpression was involved in leukemogenesis in this case.

show abstract

A Rare Case of Pure Erythroid Sarcoma in a Pediatric Patient: Case Report and Literature Review

Cited by 10 publications

References 15 publications

Erythroblastic sarcoma presenting as a unilateral pleural effusion in a patient with myelodysplastic syndrome/myeloproliferative neoplasm—Case report with cytologic and histologic findings

Erythroblastic sarcoma presenting as a unilateral pleural effusion in a patient with myelodysplastic syndrome/myeloproliferative neoplasm—Case report with cytologic and histologic findings

Myeloid Sarcoma: Features in Cytological Preparations and the Utility of Rapid On-Site Evaluation (ROSE) in Triage

Identification of RCC1–LCK as a novel fusion gene in pediatric erythroid sarcoma

Contact Info

Product

Resources

About