More Than Meets the Eye: A Presentation of Extramedullary Infiltration (AML-M7)

Baldwin, Shelly; Mian, Amir

doi:10.1177/0009922810364661

Cited by 7 publications

(6 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…DS‐AMKL has a 100% 3‐year survival rate, whereas non‐DS‐AMKL patients have only 34% 3‐year survival on currently available therapies 14 . Clinical presentation of AMKL varies greatly and can include anemia, thrombocytopenia or thrombocytosis, normal or moderately elevated white cell count, lytic bone lesions, hepatosplenomegaly, and can present as a mass and mimic sarcomas or metastatic solid tumors as seen in our patients orbits and cranium 15,16 . Bone marrow aspiration is essential for diagnosing AMKL.…”

Section: Discussionmentioning

confidence: 98%

“…14 Clinical presentation of AMKL varies greatly and can include anemia, thrombocytopenia or thrombocytosis, normal or moderately elevated white cell count, lytic bone lesions, hepatosplenomegaly, and can present as a mass and mimic sarcomas or metastatic solid tumors as seen in our patients orbits and cranium. 15,16 Bone marrow aspiration is essential for diagnosing AMKL. However, it can be difficult to interpret due to the frequently concurrent extensive myelofibrosis.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2: A case report

Gillam

Catic

Paulraj

et al. 2022

Genes Chromosomes & Cancer

View full text Add to dashboard Cite

Non‐Down‐syndrome‐related acute megakaryoblastic leukemia (non‐DS‐AMKL) is a rare form of leukemia that can present with a variety of initial symptoms, including fever, rash, bruising, bleeding, or other more clinically challenging symptoms. Herein, we describe a 19‐month‐old female patient who presented with left lower extremity pain and language regression who was diagnosed with AMKL, not otherwise specified (NOS), on the basis of peripheral blood and bone marrow analysis, as well as cytogenetic and molecular diagnostic phenotyping. Of note, in addition to this patient's karyotype showing trisomy 3, a fusion between CBFA2T3 (core‐binding factor, alpha subunit 2, translocated to, 3) on chromosome 16 and GLIS2 (GLIS family zinc finger protein 2), also on chromosome 16, was observed. Patients with AMKL who have trisomy 3 with CBFA2T3::GLIS2 fusions are rare, and it is not known if the co‐occurrence of these abnormalities is coincidental or biologically related. This highlights the continued need for further expansion of genetic testing in individuals with rare disease to establish the groundwork for identifying additional commonalities that could potentially be used to identify therapeutic targets or improve prognostication.

show abstract

Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2: A case report

Gillam

Catic

Paulraj

et al. 2022

Genes Chromosomes & Cancer

View full text Add to dashboard Cite

show abstract

“…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%

See 1 more Smart Citation

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

View full text Add to dashboard Cite

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.

show abstract

Preseptal and Orbital Infections

Wald¹

2018

Principles and Practice of Pediatric Infectious Diseases

View full text Add to dashboard Cite

More Than Meets the Eye: A Presentation of Extramedullary Infiltration (AML-M7)

Cited by 7 publications

References 6 publications

Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2: A case report

Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2: A case report

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

Preseptal and Orbital Infections

Contact Info

Product

Resources

About