Nasal embryonal rhabdomyosarcoma with bone marrow metastasis simulating acute leukemia: A case report and review of the literature

Deroy, Ángel Nazco; Batista, Silvia Martín; Cabrera, Hugo Álvarez-Argüelles; Hernández, Sonia García; Sánchez, José María Raya

doi:10.1016/j.patol.2018.08.001

Cited by 6 publications

(2 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Due to the extensive metastases and unclear primary sites together with juvenile or rare cells in the bone marrow smears, five children were misdiagnosed with Leukemia or NHL and four were misdiagnosed with other solid tumours. Research has shown that the expression of skeletal muscle differentiation markers has high specificity and sensitivity and important value in primary and metastasis of RMS, these markers are often used as markers for RMS diagnosis [ 15 ]. Therefore, in consultation with the pathology departments of three hospitals, histological examination was performed and Desmin, Myogenin, MyoD1 and other muscle-specific actins in immunohistochemical stains were detected.…”

Section: Discussionmentioning

confidence: 99%

Clinical features and prognosis of paediatric rhabdomyosarcoma with bone marrow metastasis: a single Centre experiences in China

Jian

et al. 2021

BMC Pediatr

View full text Add to dashboard Cite

Background The aim of this study was to summarize the clinical characteristics, therapeutic effects and prognosis of patients with rhabdomyosarcoma (RMS) and bone marrow metastasis, improve the understanding of this disease. Method This was a single-institution retrospective study involving the children with RMS, who presented with bone marrow metastasis at initial presentation to our hospital between 1st, Jan, 2006 and 31st, Dec,2019. Follow-up concluded on 31st, Dec, 2020 and the clinical data were collected and analysed. Result Between 1st Jan 2006 and 31st Dec 2019, 13 eligible patients presented to our hospital, including 10 males and 3 females, these eligible patients accounted for 4.5% of all RMS patients. The median age at onset was 5.6 years (range 1.7-14 years). The patients not only had unfavourable primary sites, but also had multiple metastases. The bone marrow aspirate samples of the patients comprised 8-95% blast-like cells. Nine of 13 patients were misdiagnosed with haematological malignancies or other solid tumours. With respect to histology, four of 13 children were classified as embryonal RMS and nine as alveolar RMS. Eleven patients underwent PAX-FOXO1 fusion testing; eight had the POX- FOXO1 fusion gene. Immunohistochemically(IHC) analysis revealed that the tumour cells were positive for Desmin, Vimentin, Myo-D1 and Myogenin. More importantly, the patients had extremely poor prognoses, the median EFS was 12.0 months (range 3-28.3 months) and the median OS was 27.0 months (range6-46.2 months). Conclusion This study demonstrates that children with RMS and bone marrow metastasis usually exhibit atypical primary sites and multiple metastases, with presentation mimicking haematological malignancies or other solid tumors at initial presentation. Pathology and IHC analysis combined with POX-FOXO1 fusion gene detections can effectively confirm the diagnosis. These patients are more likely to relapse or progress during early treatment and are prone to intracranial metastasis. While multidisciplinary therapy combined with Temozolomide may prevent it, further prospective research is required to evaluate the therapeutic effects.

show abstract

Section: Discussionmentioning

confidence: 99%

Clinical features and prognosis of paediatric rhabdomyosarcoma with bone marrow metastasis: a single Centre experiences in China

Jian

et al. 2021

BMC Pediatr

View full text Add to dashboard Cite

show abstract

“…Previous cases have utilized CD56 positivity and CD45 negativity to differentiate rhabdomyosarcoma from leukemia, but the RNA fusion study for PAX3-FOXO1 was not confirmed in these patients prior to initiating treatment [ 6 , 10 , 11 ]. These reports were also documented in younger to middle-aged patients rather than an older adult as in the present case.…”

Section: Discussion/conclusionmentioning

confidence: 99%

Metastatic Alveolar Rhabdomyosarcoma with Extensive Bone Marrow Replacement in an Older Adult

et al. 2021

View full text Add to dashboard Cite

Rhabdomyosarcoma is extremely rare in adults. Metastatic rhabdomyosarcoma can resemble other malignancies, which can delay diagnosis and prompt treatment. This case illustrates an example of metastatic alveolar rhabdomyosarcoma with concurrent bone marrow infiltration. A 67-year-old woman presented with epistaxis and diffuse bone pain. She developed progressive thrombocytopenia requiring platelet transfusions. The patient was initially thought to have leukemia. She was found to have a large sinonasal mass with extensive metastatic disease and bone marrow infiltration. The patient was ultimately diagnosed with metastatic alveolar rhabdomyosarcoma. She was started on chemotherapy with vincristine, actinomycin, and cyclophosphamide. Unfortunately, she died prior to discharge home. Alveolar rhabdomyosarcoma can resemble a primary bone marrow malignancy when it infiltrates the bone marrow. Further investigation is needed to clarify its clinical behavior and expedite diagnosis and treatment.

show abstract

Cytologic diagnosis of metastatic embryonal rhabdomyosarcoma in cerebrospinal fluid: A case report

Yan

Xià

et al. 2021

Diagnostic Cytopathology

View full text Add to dashboard Cite

Rhabdomyosarcoma (RMS) originates from a differentiation block in muscle progenitors. Leptomeningeal metastasis is a rare but devastating complication of RMS which can be caused by dissemination of cancer cells in cerebrospinal fluid (CSF). Here, we present a 4‐year‐old female with RMS originating from the upper nasal wall. The following histologic and immunohistochemistry analyses combined with molecular testing analysis supported the diagnosis of embryonal rhabdomyosarcoma (ERMS). Results from CSF routine test, magnetic resonance imaging scans and CSF cytology indicated metastatic meningitis, thus confirming the diagnosis of metastatic ERMS in CSF. This is the first report to describe the clinical features of ERMS in CSF.

show abstract

Nasal embryonal rhabdomyosarcoma with bone marrow metastasis simulating acute leukemia: A case report and review of the literature

Cited by 6 publications

References 5 publications

Clinical features and prognosis of paediatric rhabdomyosarcoma with bone marrow metastasis: a single Centre experiences in China

Clinical features and prognosis of paediatric rhabdomyosarcoma with bone marrow metastasis: a single Centre experiences in China

Metastatic Alveolar Rhabdomyosarcoma with Extensive Bone Marrow Replacement in an Older Adult

Cytologic diagnosis of metastatic embryonal rhabdomyosarcoma in cerebrospinal fluid: A case report

Contact Info

Product

Resources

About