Dear editor,
We describe the bone marrow findings in a patient with pleomorphic rhabdomyosarcoma (RMS). A middle aged lady presented with decreased vision in the left eye for 1 month due to a 6 × 5 × 4 cm firm rubbery growth involving the left orbit. On examination, a protruding mass was identified with complete infiltration of the eyeball and its structures. Histopathology of the biopsy confirmed pleomorphic RMS with strong nuclear MyoD1 positivity (Fig. 1a, b). Post left orbital exenteration with medial maxillectomy, she was detected to have thrombocytopenia. Bone marrow examination was done to identify the cause, which revealed an infiltrate of blast-like cells. The trephine biopsy imprint smears also showed numerous cells resembling blasts mimicking an acute leukemia (Fig. 1c). These cells had round to oval nuclei, dispersed chromatin, 1–2 conspicuous nucleoli and scant to moderate amount of vacuolated basophilic cytoplasm. The cells were cytochemically negative for myeloperoxidase with focal positivity for periodic acid Schiff. The bone marrow trephine biopsy showed a diffuse infiltration by tumour cells, with a nest like pattern at places replacing the normal haematopoietic lineages (Fig. 1d).
Fig. 1.
a Histopathology of exenterated orbital specimen showing tumor cells arranged in nests separated by fibrous septae. The tumor cells exhibit high pleomorphism, with irregularly folded nuclear contours and eosinophilic cytoplasm (Haematoxylin and Eosin stain, ×400); b Immunohistochemistry for MyoD1 showing nuclear positivity in tumor cells (Peroxidase, anti-peroxidase stain, ×400); c: Bone marrow biopsy imprint smear showing immature looking cells with cytoplasmic vacuolations (May-Grünwald Giemsa stain, ×1000); d Bone marrow trephine biopsy showing diffuse infiltration by tumor arranged in clusters (Haematoxylin and Eosin stain, ×200)
Orbital RMS is a highly malignant, rare connective tissue malignancy of mesenchymal origin, metastasizing to the bone marrow via haematogenous route. The cyto-morphology of the primitive immature looking cells in the bone marrow can be easily confused with blasts of acute leukemia and other small round blue cell tumors [1, 2]. Marrow biopsy pattern and morphology of the infiltrate was helpful in clinching the diagnosis in this case.
The learning objectives in this case are, firstly, RMS infiltration should be considered in the differential diagnosis of primitive immature looking cells in bone marrow aspirate. Secondly, the role of bone marrow biopsy in the marrow evaluation of metastatic malignancies is emphasized. The pattern of tumour infiltration in the biopsy can prompt immunohistochemical stains in difficult cases, though not required in the current case since the diagnosis had already been confirmed from the biopsy from the primary site. This case underscores the need for viewing and correlating the aspirate and biopsy by all persons signing out such reports especially where the aspirates and biopsies are reported by different pathologists. [3].
Author Contributions
Praveen Sharma, Sonal Singla drafted the article, designed the study and concept. Pulkit Rastogi was involved in the diagnostic workup and revision of the article. Sandeep Bansal provided the clinical data and was involved in patient care. Sandeep Bansal, Pulkit Rastogi and Jasmina Ahluwalia approved and critically revised the manuscript for intellectual content.
Availability of Data and Material
The patient data is available on request from the corresponding author.
Compliance with Ethical Standards
Conflict of interest
The authors declare that there is no conflict of interest.
Informed Consent
The study was carried out according to the principles of Declaration of Helsinki 1964 and its revisions. Informed consent was obtained from the patient for publication of data.
Ethics Approval
Institutional Ethical Committee clearance was obtained prior to the conduct of the study (IEC Reference no. INT/IEC/2020/000363)
Consent to Participate
Written informed consent was obtained.
Consent for Publication
Patients signed informed consent regarding publishing their data.
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Not applicable.
Footnotes
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Contributor Information
Praveen Sharma, Email: dr_praveen05@yahoo.co.in.
Sonal Singla, Email: drsonalsingla@gmail.com.
Pulkit Rastogi, Email: drpulkitrastogi@gmail.com.
Sandeep Bansal, Email: drsandeepb@rediffmail.com.
Jasmina Ahluwalia, Email: japgi@live.com.
References
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Associated Data
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Data Availability Statement
The patient data is available on request from the corresponding author.