Acute megakaryoblastic leukemia in Down syndrome: orbital infiltration

Olson, Jeffrey L.; May, Michael J.; Stork, Linda C.; Kadan, N.; Bateman, J. Bronwyn

doi:10.1016/s0002-9394(00)00459-1

Cited by 8 publications

(6 citation statements)

References 3 publications

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“…We found less common phenotypic features of Down syndrome, such as "Proptosis" (OR = 9.62; p-value = 1.90 × 10 -6 ), a trait that could present in a form of leukemia associated with DS [35]; "Downslanted palpebral fissures" (OR = 10.51; p-value = 3.48 × 10 -6 ), a term usually associated with other syndromes, as upslanted fissures are more characteristic of DS [36]; and examples such as "Hypoplasia of penis" (OR = 9.54; p-value = 2.39 × 10 -6 ) and "Microtia" (OR = 12.78; p-value = 7.11 × 10 -6 ), which we could not find in the DSrelated literature. We acknowledge that that OR measures should only be used as a rough reference, given the highly unbalanced number of notes per individual between the DS case cohort and the baseline cohort (See Supplementary file).…”

Section: Implications Of New Terms Related To Down Syndromementioning

confidence: 83%

Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records

Havrilla

Zhao

Liu

et al. 2021

Genes

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Human genetic disorders, such as Down syndrome, have a wide variety of clinical phenotypic presentations, and characterizing each nuanced phenotype and subtype can be difficult. In this study, we examined the electronic health records of 4095 individuals with Down syndrome at the Children’s Hospital of Philadelphia to create a method to characterize the phenotypic spectrum digitally. We extracted Human Phenotype Ontology (HPO) terms from quality-filtered patient notes using a natural language processing (NLP) approach MetaMap. We catalogued the most common HPO terms related to Down syndrome patients and compared the terms with those from a baseline population. We characterized the top 100 HPO terms by their frequencies at different ages of clinical visits and highlighted selected terms that have time-dependent distributions. We also discovered phenotypic terms that have not been significantly associated with Down syndrome, such as “Proptosis”, “Downslanted palpebral fissures”, and “Microtia”. In summary, our study demonstrated that the clinical phenotypic spectrum of individual with Mendelian diseases can be characterized through NLP-based digital phenotyping on population-scale electronic health records (EHRs).

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Section: Implications Of New Terms Related To Down Syndromementioning

confidence: 83%

Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records

Havrilla

Zhao

Liu

et al. 2021

Genes

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“…In addition to the AMKL patient reported in this article, 103 cases of extramedullary AML at the time of initial diagnosis in pediatric patients were found in the English-language literature (102 cases) from 1971–2011 and in the archives of Children's Hospital Colorado (1 case) from 1990–2011. Of these, 9 cases were AMKL [5–8,10] and 94 cases were non-AMKL [11–77]. Nineteen of the 94 non-AMKL pat...…”

Section: Discussionmentioning

confidence: 99%

“…In addition to the AMKL patient reported in this article, 103 cases of extramedullary AML at the time of initial diagnosis in pediatric patients were found in the English-language literature (102 cases) from 1971-2011 and in the archives of Children's Hospital Colorado (1 case) from 1990-2011. Of these, 9 cases were AMKL [5][6][7][8]10] and 94 cases were non-AMKL . Nineteen of the 94 non-AMKL patients carried MLL translocations (MLL + ) [15][16][17][18][19][20][21][22], which are known to be associated with higher frequency of extramedullary lesions and younger age [15,18].…”

Section: Discussionmentioning

confidence: 99%

Clinicopathological Characteristics of Extramedullary Acute Megakaryoblastic Leukemia (AMKL): Report of a Case with Initial Mastoid Presentation and Review of Literature to Compare Extramedullary AMKL and Non-AMKL Cases

2012

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Extramedullary acute megakaryoblastic leukemia (AMKL) is a rare neoplasm with a varied clinical presentation. AMKL with initial mastoid presentation has never been reported. The extreme rarity of mastoid AMKL, together with the tendency of extramedullary AMKL to mimic other small blue cell tumors, can create a diagnostic challenge. We report a case of AMKL that initially presented as a mastoid lesion and provide a comprehensive review and analysis that compares the characteristics of extramedullary AMKL and nonmegakaryoblastic acute myeloid leukemia (AML) in reported pediatric cases over the past 30 years. We found that patients with extramedullary AMKL were not only younger than patients without megakaryocytic differentiation but were also limited to those ≤ 2 years of age. In addition, girls predominated in both AMKL and AML MLL(+) groups compared with other types of AML (P = 0.0366 and P = 0.0082). Furthermore, we found that extramedullary AMKL was more likely to involve bone than AML MLL(+) (P < 0.0001) or other types of AML (P = 0.0002). These findings suggest that extramedullary AMKL should be considered in the differential diagnosis of SBCT in children, especially in patients with mastoid or other bony lesions, those ≤ 2 years of age, and female patients.

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“…В миелограмме бласты составляли 2%. Цитогенетическое исследование клеток костного мозга -кариотип 46 ХY [25].…”

Section: в помощь практическому врачуunclassified

Primary granulocytic sarcoma of lacrimal gland

2016

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The article presents clinical description and instrumental findings (ultrasound examination and multi-slice computed tomography of the orbits) of a rare lacrimal gland tumor, which precedes or concurs with acute myeloblastic leukemia. Due to the low incidence of myeloid (granulocytic) sarcoma, it is not possible to develop a proper algorithm for its diagnosis and treatment. Few descriptions that are available in the literature neither give an idea of the variety of manifestations and the order of organ involvement, nor allow any vital prognosis. Verification of the diagnosis can only be based on immunohistochemical findings of the primary tumor and bone marrow biopsy material. The authors emphasize the importance of combination treatment (radiation therapy of the orbits and chemotherapy) in the prevention of leukemia.

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Acute megakaryoblastic leukemia in Down syndrome: orbital infiltration

Cited by 8 publications

References 3 publications

Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records

Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records

Clinicopathological Characteristics of Extramedullary Acute Megakaryoblastic Leukemia (AMKL): Report of a Case with Initial Mastoid Presentation and Review of Literature to Compare Extramedullary AMKL and Non-AMKL Cases

Primary granulocytic sarcoma of lacrimal gland

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