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 Table of Contents  
Year : 2015  |  Volume : 4  |  Issue : 4  |  Page : 561-563

Rhabdomyosarcoma masquerading as acute leukemia with lymphoid phenotype expression: A diagnostic trap

Department of Pathology, Regional Cancer Centre, Thiruvananthapuram, Kerala, India

Date of Web Publication2-Jul-2015

Correspondence Address:
Rekha Appukuttan Nair
Department of Pathology, Regional Cancer Centre, Thiruvananthapuram - 695 011, Kerala
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2278-0513.158536

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Rhabdomyosarcoma (RMS) can mimic acute leukemia both clinically and morphologically and can express a few surface markers characteristic of leukemic blasts. We report a case of a 21-year-old male patient who presented with pancytopenia. Bone marrow studies showed the atypical cells resembling blasts, expressing CD19 on flow cytometry and desmin by immunocytochemistry in bone marrow aspirate smears. A diagnosis of RMS infiltrating the bone marrow was made.

Keywords: Acute leukemia, lymphoid phenotype expression, rhabdomyosarcoma

How to cite this article:
Vasudevan JA, Nair RA, Jacob PM. Rhabdomyosarcoma masquerading as acute leukemia with lymphoid phenotype expression: A diagnostic trap. Clin Cancer Investig J 2015;4:561-3

How to cite this URL:
Vasudevan JA, Nair RA, Jacob PM. Rhabdomyosarcoma masquerading as acute leukemia with lymphoid phenotype expression: A diagnostic trap. Clin Cancer Investig J [serial online] 2015 [cited 2020 Dec 5];4:561-3. Available from:

  Introduction Top

Bone marrow infiltration by the nonhematopoietic malignancies has always been a source of misdiagnosis. Neoplastic cells especially of small round cell neoplasms resemble the blasts of acute leukemia. [1],[2],[3] Cases of rhabdomyosarcoma (RMS) presenting with disseminated disease with no obvious primary tumor always present a diagnostic problem. There are also reports of RMS confined to the bone marrow. [4] We herein present a case of RMS with bone marrow metastasis in the initial presentation itself thus clinically and morphologically mimicking an acute hematological malignancy.

  Case report Top

A 21-year-old male patient had pain, edema and weakness of left leg of 2 weeks duration. He developed fever, urinary retention and consulted a local hospital. The routine investigations revealed pancytopenia. On examination, there was generalized lymphadenopathy and hepatosplenomegaly. Peripheral smear examination revealed leukoerythroblastic blood picture. The bone marrow aspirate was reported as high-grade malignancy possibly erythroleukemia and referred to our center. On examination, his general condition was poor. He had high-grade fever, severe pallor, generalized lymphadenopathy and bilateral pedal edema. Abdomen was distended, and a vague mass was palpable in the right suprapubic area. He had right sided pleural effusion, hematuria, and low urine output. Laboratory investigations revealed hemoglobin - 3.8 g%, total count - 8800/mm 3 , platelet count - 8000/mm 3 . Renal function tests revealed elevated urea and creatinine levels. Computerized tomography scan revealed soft tissue mass in the paraaortic and ischiorectal fossa inseparable from prostate. Peripheral smear revealed a leukoerythroblastic blood picture. Bone marrow aspirate revealed atypical cells including few plasmacytoid, binucleate and multinucleate cells arranged mainly singly and in focal clusters. Individual cells had scanty cytoplasm and round to oval nucleus with fine granular chromatin and inconspicuous nucleoli [Figure 1]a. Flow cytometry revealed the tumor cells positive only for CD19 [Figure 1]b. Other lymphoid and myeloid markers including CD56 were negative. Immunocytochemistry in bone marrow aspirate showed the positivity of tumor cells for desmin [Figure 1]c. Thus, diagnosis of RMS infiltrating bone marrow was given. He was started on combination chemotherapy with vincristine, dactinomycin, cyclophosphamide and adriamycin. His hematuria subsided and blood counts improved. The patient is currently stable and is doing well.
Figure 1: (a) Atypical cells arranged mainly singly and in small clusters (Giemsa, ×200). Inset showing the cell morphology (Giemsa, ×1000). (b) Tumor cells are positive for CD19 on flow cytometry. (c) Tumor cells are positive for desmin by immunocytochemistry (×1000)

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  Discussion Top

Clinical and morphological resemblance of RMS and acute leukemia can result in misdiagnosis. RMS is the most common soft tissue sarcoma of children and adolescents commonly involving head and neck region, urogenital tract and extremities. Distant metastasis has been reported in fewer than 25% of the patients with lungs being the most common site followed by bone marrow. [5] RMS has a predilection for involving unusual sites like breast, testis, and subcutaneous tissue. Autopsy studies revealed pancreatic metastasis in around 67% of patients who died from metastatic RMS. [6] There are case reports of RMS in unusual locations such as upper thoracic spine with resultant fluctuating neurological status of the patient. [7] Cardiac RMS can present as severe mitral stenosis requiring emergency surgery and revealed as RMS only by histopathology. [8]

Bone marrow metastasis of RMS reveals a loosely arranged distribution of cells resembling blasts thus simulating acute leukemia. There are case reports of RMS misdiagnosed and treated as poorly differentiated leukemia based on morphology and cytochemistry alone and then proved as RMS based on demonstration of t(2,13) by cytogenetics study. [4] Nonhematolymphoid tumors presenting in leukemic phase, diffuse infiltration of bone marrow or inapparent primary site can be mistaken for hematolymphoid malignancies. Patients with widespread RMS can present with systemic symptoms, anemia, thrombocytopenia, disseminated intravascular coagulation, tumor lysis syndrome and thus clinically mimicking a hematologic malignancy. [9],[10] RMS can also express B cell associated antigens like CD19, CD10, CD20 and immunoglobulins. It can also express CD56 and CD36 that are commonly used to assess hematologic malignancies. [11] Clustering of neoplastic cells is also seen in acute leukemias. [12]

  Conclusion Top

Thus to conclude, we are presenting this case to emphasize the need to include RMS in the differential diagnosis in patients who present with clinical impression of acute leukemia with atypical features in bone marrow morphology and flow cytometry.

  References Top

Srinivas U, Pillai L, Kar R, Mahapatra M, Gujra S, Pati HP. A case of rhabdomyosarcoma masquerading as acute leukemia at presentation: A case report. Indian J Pathol Microbiol 2007;50:917-9.  Back to cited text no. 1
Shinkoda Y, Nagatoshi Y, Fukano R, Nishiyama K, Okamura J. Rhabdomyosarcoma masquerading as acute leukemia. Pediatr Blood Cancer 2009;52:286-7.  Back to cited text no. 2
Naithani R, Kumar R, Mahapatra M, Agrawal N, Saxena R, Sharma S. Pelvic alveolar rhabdomyosarcoma with bone marrow involvement misdiagnosed as acute myeloid leukemia. Hematol Oncol 2007;24:153-5.  Back to cited text no. 3
Sandberg AA, Stone JF, Czarnecki L, Cohen JD. Hematologic masquerade of rhabdomyosarcoma. Am J Hematol 2001;68:51-7.  Back to cited text no. 4
Breneman JC, Lyden E, Pappo AS, Link MP, Anderson JR, Parham DM, et al. Prognostic factors and clinical outcomes in children and adolescents with metastatic rhabdomyosarcoma - A report from the Intergroup Rhabdomyosarcoma Study IV. J Clin Oncol 2003;21:78-84.  Back to cited text no. 5
Enzinger FM, Shiraki M. Alveolar rhabdomyosarcoma. An analysis of 110 cases. Cancer 1969;24:18-31.  Back to cited text no. 6
Tsitsopoulos PD, Tsonidis CA, Nanasis KA, Tsoleka KD, Tavridis GN. Unusual course of an epidural rhabdomyosarcoma of the upper thoracic spine. Acta Neurochir (Wien) 1995;135:198-200.  Back to cited text no. 7
Castorino F, Masiello P, Quattrocchi E, Di Benedetto G. Primary cardiac rhabdomyosarcoma of the left atrium: An unusual presentation. Tex Heart Inst J 2000;27:206-8.  Back to cited text no. 8
Tsai SC, Reale LD, Flomenberg N, Schwarting R, Enck RE. Alveolar rhabdomyosarcoma mimicking a lymphoma at presentation. J Clin Oncol 2006;24:4031-2.  Back to cited text no. 9
Bien E, Maciejka-Kapuscinska L, Niedzwiecki M, Stefanowicz J, Szolkiewicz A, Krawczyk M, et al. Childhood rhabdomyosarcoma metastatic to bone marrow presenting with disseminated intravascular coagulation and acute tumour lysis syndrome: Review of the literature apropos of two cases. Clin Exp Metastasis 2010;27:399-407.  Back to cited text no. 10
Pinto A, Tallini G, Novak RW, Bowen T, Parham DM. Undifferentiated rhabdomyosarcoma with lymphoid phenotype expression. Med Pediatr Oncol 1997;28:165-70.  Back to cited text no. 11
Arber DA, Brunning RD, Orazi A, Porwit A, Peterson L, Thiele J, et al. Acute myeloid leukaemia, not otherwise specified. In: Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, et al., editors. WHO Classification of Tumors of Haematopoetic and Lymphoid Tissues. 4 th ed. Lyon: International Agency for Research on Cancer; 2008. p. 136-7.  Back to cited text no. 12


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