J Pathol Transl Med.  2019 Sep;53(5):308-316. 10.4132/jptm.2019.07.22.

Primary Rhabdomyosarcoma of the Breast: Study of Three Cases at One Institution with a Review of Primary Breast Sarcomas

• Shin J
• Kim HJ
• Kim DY
• Gong G
• Cho KJ

• KMID: 2459579
• DOI: http://doi.org/10.4132/jptm.2019.07.22

Abstract

BACKGROUND
Primary breast sarcoma (PBS) is rare, comprising approximately 1% of breast malignancies. Rhabdomyosarcoma (RMS) accounts for an extremely small proportion of PBSs, often leading to delayed histologic confirmation.
METHODS
Upon reviewing Asan Medical Center's pathology database between 2000 and 2018, 41 PBS cases were retrieved, including three cases of primary RMS of the breast. Their clinicopathological features were analyzed, and the literature related to PBS and primary RMS of the breast was reviewed.
RESULTS
We identified three primary breast RMS cases from our institution database, comprising 7.3% of PBS: one case each of spindle cell/sclerosing RMS (ssRMS), alveolar RMS (aRMS), and embryonal RMS (eRMS). All cases involved adolescents or young adults (14, 16, and 25 years, respectively) who underwent mastectomy or radiotherapy and were confirmed using immunohistochemical testing for myogenin, desmin, and myogenic differentiation. The ssRMS patient experienced recurrence at the operation site 4 months post-surgery despite undergoing concurrent chemoradiotherapy. The aRMS patient had multiple metastases at diagnosis and showed FAX3-FOXO1 fusion transcripts; she died 22 months after the diagnosis. The eRMS patient had enlarged axillary lymph nodes; post-radiotherapy, the lesion recurred as multiple metastases to the bone and lung. She died 18 months post-diagnosis.
CONCLUSIONS
Our experience on RMS cases suggests that spindle cell or small round cell malignancy in breasts of young female should raise suspicion for the possibility of primary or secondary RMS. To our knowledge, this is the second report of primary breast ssRMS and it may help clinicians who encounter this rare disease in the future.

Keyword

Spindle cell rhabdomyosarcoma; Sclerosing rhabdomyosarcoma; Primary sarcoma of the breast

MeSH Terms

Adolescent
Arm
Breast*
Chemoradiotherapy
Chungcheongnam-do
Desmin
Diagnosis
Female
Humans
Lung
Lymph Nodes
Mastectomy
Myogenin
Neoplasm Metastasis
Pathology
Radiotherapy
Rare Diseases
Recurrence
Rhabdomyosarcoma*
Sarcoma*
Young Adult
Desmin
Myogenin

Figure

• 

  Fig. 1. Primary breast sarcoma of patient A. (A) A 12×9.5×8.3-cm-sized heterogeneously enhancing mass in the left breast (yellow arrow). (B) Grayish-yellow cut surface of the mass with multifocal hemorrhagic spots and central cavity formation. (C, D) Spindle cells exhibiting a fascicular or storiform growth pattern with a small amount of myxoid matrix. The image showing highly pleomorphic elongated nuclei and pale to eosinophilic cytoplasm, with high mitotic rates (up to 94/10 high power fields). (E–H) Immunohistochemical staining showing positivity of tumor cells for MyoD1 (E), desmin (F), and myogenin (G) and negativity for MNF-116 (H).

• 

  Fig. 2. Primary breast sarcoma of patient B. (A) Primitive round-to-polygonal cells comprising the nests separated by fibrous septa and showing a loss of cellular cohesion. (B, C) Immunohistochemical staining for desmin (B) and myogenin (C). (D) PAX3-FKHR (FOXO1) fusion identified by PAX-3/PAX-7-FKHR (FOXO1) nested reverse transcription polymerase chain reaction analysis.

• 

  Fig. 3. Primary breast sarcoma of patient C. (A) Magnetic resonance imaging of the breast showing multifocal, infiltrating, ill-defined, enhancing masses in the left lower inner, upper inner, and lower outer quadrants. (B) Hyperchromatic small round cells with scanty cytoplasm exhibiting solid-sheet and cord-like growth patterns. (C, D) Immunohistochemical staining showing negativity for desmin (C) and positivity for myogenin (D).

• 

  Fig. 4. Age distribution of primary breast sarcoma (PBS) according to subtype. Angiosarcoma was the most common sarcoma, followed by extra-skeletal osteosarcoma, liposarcoma, and dermatofibrosarcoma protuberans (DFSP). The most prevalent age-group was 50–60 years. PBS was rare in people aged less than 30, and rhabdomyosarcoma was the most common subtype in this age-group. UPS, undifferentiated pleomorphic sarcoma; MPNST, malignant peripheral nerve sheath tumor.

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