Unusual presentation of more common disease/injury
Case report
Acute myeloid leukaemia presenting with bilateral breast masses Kai Chun Andrew Cheng, Yan-Lin Li, Tina Lam Department of Radiology, Queen Mary Hospital, Pokfulam, Hong Kong Correspondence to Dr Kai Chun Andrew Cheng, acheng1404@gmail.com Accepted 29 July 2018
Summary A 46-year-old woman with a known history of acute myeloid leukaemia presented with bilateral breast masses with pain and itchiness. The breast masses were hard on palpation. Mammogram was unremarkable. Ultrasound showed multiple conglomerated masses of heterogeneous hyperechogenicity and hypoechogenicity throughout all quadrants of bilateral breasts. Pathology showed mononuclear cells, suggestive of breast leukaemic infiltration. She was treated with decitabine and platelet transfusion.
We performed a 14-gauge Monopty core needle biopsy at the 2 o’clock position of the left breast. The stroma was diffusely infiltrated by cords and sheets of mononuclear cells, which showed dispersed chromatin and inconspicuous nucleoli. Immunohistochemical stains showed the mononuclear cells were positive for leucocyte common antigen CD45 and CD117 (c-kit) (figure 3). Along with the known history of acute myeloid leukaemia, the overall clinical picture was suggestive of leukaemic infiltration of bilateral breast parenchyma.
Differential diagnosis Background
►► ►►
Invasive ductal carcinoma. Haematoma due to underlying bleeding tendency.
Acute leukaemic infiltration of breast parenchyma is a rare entity. It can present as bilateral breast masses. Radiological features of breast leukaemia are variable and non-specific. They can mimic primary breast carcinoma radiologically. Core biopsy should always be performed whenever there is clinical uncertainty.
Treatment
Case presentation
Outcome and follow-up
This is a case of a 46-year-old young woman with history of acute myeloid leukaemia previously treated with stem cell transplantation. She had a relapse of acute myeloid leukaemia and presented with medical problems such as haematuria, per vaginal bleeding and thrombocytopenia. In current admission, she presented with bilateral breast masses with pain and itchiness. The breast masses were nodular, non-tender and hard on palpation. The nodules measured 7–8 cm in size. There were no palpable axillary lymph nodes. She was a non-smoker and non-drinker. She had no family history of breast cancer or acute myeloid leukaemia.
There was no surgical treatment. She was treated with decitabine, platelet transfusion, eltrombopag olamine tablets and tranexamic acid for the leukaemic breast infiltrations.
She was followed up by medical haematology team.
Discussion
Acute myeloid leukaemia is an aggressive haematological cancer caused by abnormal proliferation and accumulation of haematopoietic progenitor cells. It is one of the most common malignancies
Investigations
© BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ. To cite: Cheng KCA, Li Y-L, Lam T. BMJ Case Rep Published Online First: [please include Day Month Year]. doi:10.1136/bcr-2018225735
Mammograms showed heterogeneous dense breast parenchyma. There were no suspicious microcalcifications, mass, architectural distortion, nipple retraction or enlarged axillary lymph nodes (figure 1). Breast ultrasound showed multiple ill-defined conglomerated masses of heterogeneous hyperechogenicity and hypoechogenicity at all quadrants. The masses measured up to 4 cm. Doppler imaging showed slight increased vascularity of the breast masses. There were no enlarged lymph nodes at bilateral axillary regions (figure 2).
Figure 1 Bilateral craniocaudal view mammograms are unremarkable.
Cheng KCA, et al. BMJ Case Rep 2018. doi:10.1136/bcr-2018-225735
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Unusual presentation of more common disease/injury
Figure 2 Ultrasound shows ill-defined conglomerated mass of heterogeneous hyperechogenicity and hypoechogenicity. The masses are seen throughout all quadrants of bilateral breast parenchyma. Slightly increased vascularity is noted.
Figure 3 Breast stroma is diffusely infiltrated by cords and sheets of mononuclear cells, which show dispersed chromatin and inconspicuous nucleoli. Overall features suggest leukaemic infiltration (left). Immunohistochemical staining was positive for leucocyte common antigens CD45 (Mid) and CD117 (c-kit) (right). CD45 is a unique membrane glycoprotein that is expressed on almost all haematopoietic cells. It has a functional role in haematopoietic cell activation and differentiation. CD117 molecule is an antigen frequently found on leukaemic haematopoietic cells. CD117 antigen shows a high specificity for acute myeloid leukaemia. in adulthood.1 It is characterised by accumulation of immature myelogenous cells in the blood and bone marrow. Metastasis of extramammary malignancies to the breast are very rare and are described first in 1903. Lymphoma, malignant melanoma and rhabdomyosarcoma are the most common tumours that metastasise to the breast tissue. Leukaemia presenting with breast metastases are very rare, with fewer than 200 cases reported in the literature.1 Acute myeloid leukaemia and lymphocytic leukaemia involving the breast have both been described, with acute myeloid leukaemia being the more common metastasis. The reported age ranges from 1 to 80 years.2 The median age of leukaemic breast infiltration has been reported at 33 years. Leukaemic involvement of the breast may be seen in isolation or in the setting of widespread disease. The patient may present with unilateral or bilateral breast masses with or without enlarged axillary lymphadenopathy. The masses may be hard on palpation. Mammographic and sonographic features of breast and leukaemia are non-specific and indistinguishable from other breast malignancies. Therefore, a specific diagnosis should not be made solely on the basis of imaging.3 On mammogram, they can present as a well-defined benign nodule or an ill-defined irregular suspicious-looking mass. Diffuse breast enlargement with coarse parenchyma may also occur. Majority of breast acute myeloid leukaemia present as multiple nodules bilaterally.3 Microcalcifications are rarely seen. Ultrasonographic features of breast metastases also range widely.3 Ultrasound may show hypoechogenicity, hyperechogenicity or mixed echogenicities. The margin can be irregular or lobulated. Central anechoic with peripheral hyperechoic areas 2
have been reported. Doppler ultrasound may show increased vascularity. MRI findings are non-specific and the value of MRI in breast leukaemia is not yet established.3 MRI may show non-mass enhancement, solitary or multiple enhancing masses.4 MRI may show T2 hyperintensity signal or ring enhancement due to underlying peripheral angiogenesis and central necrosis.5 Diffusion-weighted images may show restricted diffusion signals. A prior history of haematological malignancy is helpful in diagnosing secondary breast lesions. Meanwhile, the diagnosis would be more challenging if breast leukaemia infiltration is the only presentation.4 In the setting of undetermined and non-specific breast imaging, breast core biopsy should always be performed. Primary breast cancer may benefit most from surgery at the early stages. Haematological malignancies with breast involvement may benefit most from treatment of leukaemia. It is
Learning points ►► Acute leukaemic infiltration of breasts is a rare entity and can
present as bilateral breast masses.
►► Leukaemic involvement of the breast may be seen either in
isolation or in the setting of widespread disease.
►► Radiological features of breast leukaemia is non-specific
and can have a variable appearance. They can mimic primary breast carcinoma radiologically. ►► Any enlarging breast mass, regardless of imaging appearance, must be investigated promptly. Fine-needle aspiration or core needle biopsy should always be performed. Cheng KCA, et al. BMJ Case Rep 2018. doi:10.1136/bcr-2018-225735
Unusual presentation of more common disease/injury therefore important to differentiate primary breast cancer from leukaemic breast involvement. Clinicians should have high index of suspicion on enlarging breast masses regardless of imaging findings. Fine-needle aspiration or core needle biopsy should always be performed.5 Contributors KCAC and TL were involved in patient care. KCAC and Y-LL produced the manuscript. Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors. Competing interests None declared. Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
References
1 Payandeh M, Khodarahmi R, Sadeghi M, et al. Appearance of acute myelogenous leukemia (AML) in a patient with breast cancer after adjuvant chemotherapy: case report and review of the literature. Iran J Cancer Prev 2015;8:125–8. 2 Glazebrook KN, Zingula S, Jones KN, et al. Breast imaging findings in haematological malignancies. Insights Imaging 2014;5:715–22. 3 Magalhães MJ, Galaghar A, Fernandes C, et al. Breast lymphoma and leukemia: imaging features and radiologic–pathologic correlation. 4 Aslan H, Pourbagher A. Breast involvement by hematologic malignancies: ultrasound and elastography findings with clinical outcomes. J Clin Imaging Sci 2017;7:42. 5 Basara I, Orguc S. Giant breast involvement in acute lymphoblastic leukemia: MRI findings. J Breast Cancer 2012;15:258–60.
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Cheng KCA, et al. BMJ Case Rep 2018. doi:10.1136/bcr-2018-225735
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