Acute myeloid leukemia with t(8;21)(q22;q22) manifesting as granulocytic sarcomas in the rhinopharynx and external acoustic meatus at relapse after high-dose cytarabine: case report and review of the literature

Sugimoto, Yuka; Nishii, Kazuhiro; Sakakura, Miho; Araki, Hiroto; Usui, Eiji; Lorenzo, Felipe; Hoshino, Natsuki; Miyashita, Hiroyuki; Ohishi, Koshi; Katayama, Naoyuki; Shiku, Hiroshi

doi:10.1038/sj.thj.6200336

Cited by 29 publications

(13 citation statements)

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“…The t(8;21) translocation is the most commonly reported cytogenetic abnormality associated with EM involvement, both at presentation and at relapse. 15,42 In children, it has been associated with orbital MS. 40,43 The inv (16) is another cytogenetic abnormality with a higher incidence of EM involvement, particularly in the abdomen. 41 Molecularly, t(8;21) and inv(16) result in the AML1/ETO 44 (RUNX1/RUNX1T1) and CBF␤/MYH11 45 fusion genes, respectively, which carry a relatively favorable prognosis.…”

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

418

586

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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

418

586

View full text Add to dashboard Cite

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“…The skin lesions can have a wide range of cutaneous manifestations, which can make it difficult to clinically distinguish leukemia cutis from other lesions. A variety of chromosomal abnormalities have been reported in AML patients with myeloid sarcoma, but most often it was associated with specific abnormalities such as t(8; 21)(q22;q22) and inv(16)(p13q22), although infrequent in infants [Sugimoto et al, 2004;Zhang et al, 2010]. Only few studies have investigated the status of the MLL gene in patients with myeloid sarcoma-associated AML.…”

mentioning

confidence: 99%

Complex Three-Way Translocation Involving MLL, ELL, RREB1, and CMAHP Genes in an Infant with Acute Myeloid Leukemia and t(6;19;11)(p22.2;p13.1;q23.3)

Tuborgh

Meyer

Marschalek

et al. 2013

Cytogenet Genome Res

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Rearrangements affecting the MLL gene in hematological malignancies are associated with poor prognosis. Most often they are reciprocal translocations and more rarely complex forms involving at least 3 chromosomes. We describe an unusual case with cutaneous leukemic infiltrates that waxed and waned until progression to acute myeloid leukemia, AML-M5. The leukemic cells harbored a novel apparent 3-way translocation t(6;19;11)(p22.2;p13.1;q23.3). We utilized advanced molecular cytogenetic methods including 24-color karyotyping, high-resolution array comparative genomic hybridization (aCGH) and DNA sequencing to characterize the genomic complement in the leukemic cells from aspirated bone marrow cells at AML diagnosis. Karyotyping showed 47,XY,t(6;19;11)(p22;p13;q23),+der(6)t(6;11)(p22;q23)[17]/48,sl,+8[3]/48,sl,+8,der(12)t(1;12)(q11;p13)[3]/ 48,sdl,der(Y)t(Y;1)(q12;q11),+8[7] conferring MLL-ELL fusion. Oligo-aCGH analysis confirmed gains of 6p22qter and 11q23.3qter involving the CMAHP and MLL genes, respectively. DNA sequencing disclosed an additional breakpoint at 6p24.3 (at RREB1 gene). Retrospective fluorescence in situ hybridization revealed presence of the MLL-involving rearrangement in the initial stages of disease before clear morphological signs of bone marrow involvement. The patient responded well to therapy and remains in remission >6 years from diagnosis. This apparent 3-way translocation is remarkable because of its rarity and presentation with myeloid sarcoma, and may, as more cases are characterized, further our understanding onto how such complex translocations contribute to promote leukemogenesis and respond to therapy.

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“…From a therapeutic perspective, data from the literature suggest that GSs are extremely sensitive to focal irradiation or chemotherapy; however, their role is not well defined (13,(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28). The optimal treatment for the GS-AML association remains uncertain.…”

Section: Discussionmentioning

confidence: 99%

Immunohistochemical patterns in the differential diagnosis of rhinopharyngeal granulocytic sarcoma

et al. 2016

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Abstract. Granulocytic sarcoma (GS) is a rare extramedullary manifestation of acute myeloid leukemia (AML). GS may develop simultaneously to AML or as a relapse of leukemia, particularly following allogeneic hematopoietic stem cell transplant. Subperiosteal bone, lymph nodes and skin are commonly involved, whereas rhinopharyngeal involvement is less common, with only 14 cases reported in the literature. Due to its rarity, rhinopharyngeal GS may lead to diagnostic pitfalls, particularly when it is poorly differentiated or is without concomitant marrow involvement. Thus, immunohistochemical findings play a key role in diagnosis. The current report describes a case of a 53-year-old female suffering from rhinopharyngeal GS and with a history of AML treated with chemotherapy and radiotherapy, focusing on the importance of the immunohistochemical pattern to assess the right diagnosis. Recent studies have demonstrated that the immunophenotype is of utmost importance for the diagnosis of GS. The high expression of myeloperoxidase (MPO) is common in GS; however, ~30% of GSs do not contain MPO. Therefore, the presence of other markers is required to confirm the diagnosis of GS.

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Acute myeloid leukemia with t(8;21)(q22;q22) manifesting as granulocytic sarcomas in the rhinopharynx and external acoustic meatus at relapse after high-dose cytarabine: case report and review of the literature

Cited by 29 publications

References 36 publications

How I treat extramedullary acute myeloid leukemia

How I treat extramedullary acute myeloid leukemia

Complex Three-Way Translocation Involving <b><i>MLL</i></b>, <b><i>ELL</i></b>, <b><i>RREB1</i></b>, and <b><i>CMAHP </i></b>Genes in an Infant with Acute Myeloid Leukemia and t(6;19;11)(p22.2;p13.1;q23.3)

Immunohistochemical patterns in the differential diagnosis of rhinopharyngeal granulocytic sarcoma

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