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Images/Videos in Hematology
1 (
1
); 41-42
doi:
10.25259/JHAS_3_2021

Unveiling the diagnosis of rhabdomyosarcoma on bone marrow biopsy without an obvious primary

Hematology, Core diagnostics, Udyog Vihar, Gurugram-122016, Haryana, India
Hematology, Vardhman Mahavir Medical College and Safdarjung Hospital, Department of Haematology, New Delhi, India-110029
Corresponding author: Aastha Gupta Hematology, Core diagnostics, Udyog Vihar, Gurugram-122016, Haryana-India. draasthagupta83@gmail.com
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This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.

How to cite this article: Gupta A, Kumari S, Dixit M, Jain A. Unveiling the diagnosis of rhabdomyosarcoma on bone marrow biopsy without an obvious primary. J Hematol Allied Sci 2021;1(1):41–2.

A 13-year-old girl presented with one-month history of fever, dyspnoea, pallor, multiple petechiae over bilateral lower limbs and reduced air entry in left hemithorax. CT scan chest showed multiple pleural nodules, massive left-sided effusion with multiple osteolytic lesions in the overlying ribs. Bone marrow biopsy showed infiltration by abnormal small cells with hyperchromatic nuclei forming vague nodules at places. On immunohistochemistry (IHC), these abnormal cells mimicking blasts were negative for acute leukemia markers (LCA, TdT, CD34, CD117, PAX5, CD3, MPO, CD99) and were strongly positive for Desmin, Myogenin, Myo D1, Vimentin, CD56 and negative for NSE, Synaptophysin, Chromogranin, PanCK, WT1 [Figure]. IHC findings suggested a diagnosis of infiltration of bone marrow by soft tissue sarcoma (likely to be rhabdomyosarcoma) was suggested.

Figure 1:: A case of rhabdomyosarcoma with bone marrow infiltration a) H&E stained section of bone marrow biopsy (40X) with infiltration by abnormal small cells with hyperchromatic nuclei. b-d) Desmin (40X), MyoD1(40X), Myogenin (40X) shows diffuse positivity in these cells. e and f) LCA (40X) and CD34 (10X) are negative in the abnormal round cells.

Rhabdomyosarcoma is the most common soft tissue sarcoma of adolescent and childhood; however, bone marrow involvement as presenting feature without an obvious primary is an extremely rare phenomenon[1].

Declaration of patient consent

Patient’s consent not required as patients identity is not disclosed or compromised.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

  1. , , , , . Bone marrow infiltration by nonhematopoetic small round cell tumors: a clinicopathological study from a tertiary care centre in South India. Indian J Med Paediatr Oncol. 2019;40:1.
    [CrossRef] [Google Scholar]

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