Tetrasomy 8 and t(1;11)(p32;q24) in acute myelo-monocytic leukemia with extensive leukemic cutaneous involvement

Ferrara, Felicetto; Cancemi, Dino; Friso, Patrizia; Gaglione, Marcello; Picardi, Adele; Rossi, Luciano Pavan; Scognamiglio, M

doi:10.3109/10428199609052439

Cited by 17 publications

(6 citation statements)

References 9 publications

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“…55 Tetrasomy and pentasomy of chromosome 8 have also been reported in limited cases. 56,57 Recent systematic fluorescence in situ hybridization analysis on MS samples detected several chromosomal aberrations, including monosomy 7, trisomy 4, trisomy 8, trisomy 11, del(5q), and del(20q), among others previously mentioned. 35 In this series, chromosomal aberrations were detected in 54% of patients, suggesting an overall high prevalence.…”

Section: Which Cytogenetic Abnormalities and Genetic Mutations Are Asmentioning

confidence: 99%

How I treat extramedullary acute myeloid leukemia

Bakst¹,

Tallman

Douer

et al. 2011

Blood

417

606

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IntroductionAcute leukemia may present in a variety of extramedullary (EM) tissues with or without bone marrow disease. EM involvement by acute leukemia is a relatively rare, but clinically significant, phenomenon that often poses therapeutic dilemmas. Myeloid sarcoma (MS) and leukemia cutis (LC) represent 2 well-known EM manifestations. MS (also known as granulocytic sarcoma or chloroma) is a rare EM tumor of immature myeloid cells. It was first described in 1811 1 and later named "chloroma" by King 2 in 1853 because of its green color caused by the presence of myeloperoxidase (MPO). 3 Five decades later, the relationship of MS to acute leukemia was identified. 4 The term "granulocytic sarcoma" was introduced later by Rappaport to describe only tumors of granulocytic origin 5 ; however, the term is now often applied to any tumor related to acute leukemia or myelodysplastic syndrome (MDS).LC is the infiltration of the epidermis, dermis, or subcutis by neoplastic leukocytes (leukemia cells) resulting in clinically identifiable cutaneous lesions. LC commonly results in subcutaneous nodules and can be confusingly referred to as cutaneous granulocytic sarcoma. 6,7 For the purposes of this article, LC will refer to cutaneous involvement only. LC has been described mostly in acute myeloid leukemia (AML), but also in the accelerated phase of chronic myeloid leukemia, MDS, and rarely in acute lymphocytic leukemias. 7 In this article, we describe an approach and therapeutic strategies for patients with EM manifestations of leukemia by addressing a series of questions commonly raised by the practicing clinician. How common are MS and LC, respectively?MS is reported in 2.5%-9.1% 8-10 of patients with AML and occurs concomitantly, following, or, rarely, antedating the onset of systemic bone marrow leukemia. 11 Isolated MS, defined by the absence of a history of leukemia, MDS, or myeloproliferative neoplasm and a negative bone morrow biopsy, has been described in limited case reports. 12 Many of these patients are often misdiagnosed with lymphoma. 13,14 Certain known AML cytogenetic abnormalities, in particular t(8,21), have been associated with a higher incidence. 15 MS can also develop at relapse with or without marrow involvement. The incidence of patients developing MS after allogeneic hematopoietic cell transplantation (HCT) has been reported to be 0.2%-1.3% with poor overall survival. 16,17 LC occurs in ϳ 3% of patients with AML 18 and less frequently in chronic leukemias. 19 The reported incidence may be overestimated if biopsy is not performed because skin lesions similar to LC have a wide range of inflammatory, neoplastic, and infectious etiologies. 19 Certain subtypes of AML are more commonly associated with skin infiltration. The most frequent association occurs with acute myelomonocytic and monocytic differentiation with involvement in up to 50% of patients. 18,20,21 The incidence of LC may be higher in children, particularly infants with myeloid leukemia. 22 How do MS and LC most often present clinically?MS most...

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Section: Which Cytogenetic Abnormalities and Genetic Mutations Are Asmentioning

confidence: 99%

How I treat extramedullary acute myeloid leukemia

Bakst¹,

Tallman

Douer

et al. 2011

Blood

417

606

View full text Add to dashboard Cite

show abstract

“…Most patients with myeloid sarcoma present with concurrent AML [12,13], as did our patient. Tetrasomy 8 has been described in AML with extramedullary manifestations in only a handful of cases in the literature, with myelosarcomatosis of the skin being the most common extramedullary manifestation [1,2,[8][9][10]. Abnormalities of 11q23 leading to MLL gene (a gene that codes for histone-lysine N-methyltransferase HRX) rearrangements, as detected in our patient, have been reported in a number of patients with myeloid sarcoma [12].…”

Section: Discussionmentioning

confidence: 78%

“…Myeloid sarcoma may develop de novo, concurrently with AML, or as a relapse of leukemia. It occurs in 2% of AML patients, and median survival time is only 7 months [10][11][12][13]. Although 18 F-FDG PET/CT is not used routinely in the evaluation of leukemias, scattered reports suggest it can be very useful in determining the extent of disease in leukemic diseases such as AML, acute lymphoblastic leukemia, chronic myeloid leukemia, chronic lymphocytic leukemia, and myeloid and histiocytic sarcomas [14][15][16][17][18][19][20][21].…”

Section: Introductionmentioning

confidence: 99%