A unique clinical presentation of de novo acute promyelocytic leukemia as a myeloid sarcoma of the breast

Abstract

Myeloid sarcoma is a rare presentation of acute leukemia as a solid tumor at various extramedullary sites. It may present concurrently, before or after the onset of systemic bone marrow leukemia. Unusual clinical localization may lead to misdiagnosis, or delayed diagnosis and treatment. We describe the first case, to our knowledge, of de novo myeloid sarcoma of the breast confirmed as acute promyelocytic leukemia. Immunohistochemical analysis, flow cytometry, fluorescent in situ hybridization analysis and molecular analysis using RQ-PCR of tissue samples should be routine in determining the correct diagnosis in this setting.

A Case of Acute Promyelocytic Leukemia Presenting as Sternal Infiltrate

“…Out of these 17 patients, 13 patients had presence of concurrent marrow disease along with extramedullary presentation. [1,2,3,6,10,11,12,13,14,15,16,19,20] Out of these 13, in 3 patients bone marrow morphology was negative for abnormal promyelocytes but the presence of disease was being demonstrated by either cytogenetics or molecular methods similar to present case [2,10,6]. While in remaining 10 patients disease was demonstrable on bone marrow morphology as well as on cytogenetics and molecular methods.…”

“…Correct and timely diagnosis is thus a prerequisite for optimal treatment and outcome, in these cases especially establishing an accurate histological diagnosis is crucial for outlining the course of therapy [4,9].All diagnostic modalities like IHC, Flow Cytometry, FISH, karyotyping,and RQ-PCR are absolutely necessary to differentiate APL from other malignant disorders such as lymphomas, sarcomas, or other myeloid sarcomas. [10].…”

“…The mean age was 26.7 years (median being 23 years), out of which 6 were children . Table 1 summarizes the clinical and laboratory features of all these cases [1][2][3][4]6,[9][10][11][12][13][14][15][16][17][18][19][20] .The various sites reported were sternal mass in 1 [4] as also seen in the present case, spinal/paraspinal mass in 5 [1,3,17,19,13] , bony lesion of extremities in 2 [2,9] , breast mass in 1 [10] , vertebral or skeletal lesions in 2 [6,12] , mediastinum in 2 [16,18] , cerebellum in 1 [15] , lingual mass in 1 [14], mandibular mass in 1 [11] and 1 patient presented as painful 3rd molar [20]. Out of these 17 patients, 13 patients had presence of concurrent marrow disease along with extramedullary presentation.…”

Myeloid Sarcoma of the Breast as Blast Phase of JAK2-Mutated (Val617Phe Exon 14p) Essential Thrombocythemia: A Case Report and a Systematic Literature Review

“…Breast involvement frequently occurs as a monolateral palpable mass mostly with monolateral involvement, in some cases as multiple nodules [8, 10, 12-14, 16, 17, 19, 20, 22, 27-29, 31, 34, 35, 37, 38, 40, 42-44, 46, 47, 52]. Sometimes there is bilateral first presentation, also with multiple masses [9, 11, 15, 18, 21, 25, 30, 32, 36, 39, 45, 48, 50, 51]. Around 40% (21 cases) of the patients had a previous diagnosis of acute myeloid leukemia [17, 18, 21, 23, 24, 39, 40, 43, 47, 48], and among those cases, seven had undergone bone marrow transplant [25, 26, 33, 38, 43, 48].…”

“…Only in a few cases, data on cytogenetic and molecular tests were available. Despite a normal karyotype [14, 18], in absence of other cytogenetic abnormalities, in 3 cases, FLTD3-ITD mutation was detected alone or together with NPM1A mutation, as well as RARA rearrangement [23, 45]. Another possible alteration was WT-1 overexpression, while in other case reports, different types of chromosomal aberrations coexisted [9, 19, 22, 27, 38, 41, 52].…”