Top

Diagnostic Pathology

Published in:

Open Access 01-12-2016 | Case Report

Primary alveolar rhabdomyosarcoma of the bone: two cases and review of the literature

Authors: Petra Balogh, Rita Bánusz, Monika Csóka, Zsófia Váradi, Edit Varga, Zoltán Sápi

Published in: Diagnostic Pathology | Issue 1/2016

Abstract

Background

Rhabdomyosarcoma (RMS) is a malignant tumor of mesenchymal origin and comprises the largest category of soft-tissue sarcomas both in children and adolescents. From a pediatric oncology point of view, RMS has traditionally been classified into alveolar (ARMS) and embryonal (ERMS) subtypes. The anatomical localization of the tumor may vary, but commonly involve the head/neck regions, male and female urogenital tract or the trunk and extremities.

Case presentation

Here, we report two challenging cases involving 17- and 9-years-olds males where diffuse and multiplex bone lesions suggested either a hematological disease or a primary bone tumor (mesenchymal chondrosarcoma). Biopsies, proved a massive infiltration of the bone marrow cavity with rhabdomyosarcoma. In both cases, the ARMS subtype was confirmed using FOXO1 break-apart probes (FISH). Radiological examination could not identify primary soft tissue component in any localization at the time of diagnosis in either cases.

Conclusions

Primary alveolar rhabdomyosarcoma of the bone as a subtype of ARMS, seems to be a distinct clinico-pathological entity with challenging diagnostic difficulties and different, yet better, biological behavior in comparison to soft tissue ARMS. However, it is difficult to be characterized or predict its prognosis and long-term survival as only sporadic cases (four) were reported so far.

Parkin DM, Stiller CA, Draper GJ, Bieber CA. The international incidence of childhood cancer. Int J Cancer. 1988;42(4):511–20.CrossRefPubMed

Ognjanovic S, Olivier M, Bergermann TL, Hainaut P. Sarcomas in TP53 germline mutation carriers. Cancer. 2012;118(5):1387–96.CrossRefPubMed

Raney RB, Anderson JR, Barr FG, Donaldson SS, Pappo AS, Qualman SJ, Wiener ES, Maurer HM, Crist WM. Rhabdomyosarcoma and undifferentiated sarcoma in the first two decades of life: a selective review of intergroup rhabdomyosarcoma study group experience and rationale for Intergroup Rhabdomyosarcoma Study V. J Pediatr Hematol Oncol. 2001;23(4):215–20.CrossRefPubMed

Meza JL, Anderson J, Pappo AS, Meyer WH. Analysis of prognostic factors in patients with nonmetastatic rhabdomyosarcoma treated on Intergroup Rhabdomyosarcoma Studies III and IV: The Children’s Oncology Group. J Clin Oncol. 2006;24(24):3844–51.CrossRefPubMed

Davis RJ, Barr FG. Fusion genes resulting from alternative chromosomal translocations are overexpressed by gene-specific mechanisms in alveolar rhabdomyosarcoma. Proc Natl Acad Sci U S A. 1997;94(15):8047–51.CrossRefPubMedPubMedCentral

Keller C, Arenkiel BR, Coffin CM, El-Bardeesy N, DePinho RA, Capecchi MR. Alveolar rhabdomyosarcoma in conditional Pax3:Fkhr mice: cooperativity in Ink4a/ARF and Trp53 loss of function. Genes Dev. 2004;18(21):2614–26.CrossRefPubMedPubMedCentral

Jani P, Charles CY. Massive bone marrow involvement by clear cell variant of rhabdomyosarcoma. Ind J Pediatrics. 2009;76(2):224–8.CrossRef

Karagiannis P, Guth N, Thoennissen GB, Bern C, Sperveslage J, Oschlies I, Bokemeyer C, Klapper W, Wardelmann E, Thoennissen NH. Alveolar rhabdomyosarcoma confined to the bone marrow with no identifiable primary tumour using FDG-PET/CT. Clin Sarcoma Res. 2015;5:24. doi:10.1186/s13569-015-0039-6.CrossRefPubMedPubMedCentral

Yamaguchi K, Koda Y, Suminoe A, Saito Y, Matsuzaki A, Kanno S, Takimoto T, Suda M, Oda Y, Muto T, Takatsuki H, Hara T. Alveolar rhabdomyosarcoma of unknown origin mimicking acute leukemia at the initial presentation. Rinsho Ketsueki. 2007;48(4):315–20.PubMed

10.

Kern JB, Hil A, Kruse MJ, Szabo Z, Argani P, Hibbard MK, Gladstone DE, Meyer C, Zheng R, Borowitz MJ, Duffield AS. A leukemic presentation of alveolar rhabdomyosarcoma in a 52-year-old woman without an identifiable primary tumor. Int J Surg Pathol. 2015;23(1):75–7.CrossRefPubMed

11.

Crist W, Gehan EA, Ragab AH, et al. The Third Intergroup Rhabdomyosarcoma Study. J Clin Oncol. 1995;13(3):610–30.PubMed

12.

Maurer HM, Gehan EA, Beltangady M, Crist W, Dickman PS, Donaldson SS, Fryer C, Hammond D, Hays DM, Hermann J, et al. The Intergroup Rhabdomyosarcoma Study-II. Cancer. 1993;71(5):1904–22.CrossRefPubMed

13.

Breneman JC, Lyden E, Pappo AS, Link MP, Anderson JR, Parham DM, Qualman SJ, Wharam MD, Donaldson SS, Maurer HM, Meyer WH, Baker KS, Paidas CN, Crist WM. 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(1):78–84.CrossRefPubMed

14.

Mandell L, Ghavimi F, LaQuaglia M, Exelby P. Prognostic significance of regional lymph node involvement in childhood extremity rhabdomyosarcoma. Med Pediatr Oncol. 1990;18(6):466–71.CrossRefPubMed

15.

Rodeberg DA, Garcia-Henriquez N, Lyden ER, et al. Prognostic significance and tumor biology of regional lymph node disease in patients with rhabdomyosarcoma: a report from the Children's Oncology Group. J Clin Oncol. 2011;29(10):1304–11.CrossRefPubMedPubMedCentral

16.

Rudzinski ER, Teot LA, Anderson JR, Moore J, Bridge JA, Barr FG, Gastier-Foster JM, Skapek SX, Hawkins DS, Parham DM. Dense pattern of embryonal rhabdomyosarcoma, a lesion easily confused with alveolar rhabdomyosarcoma. Am J Clin Pathol. 2013;140(1):82–90.CrossRefPubMedPubMedCentral

17.

Kuttesch Jr JF, Parham DM, Kaste SC, Rao BN, Douglass EC, Pratt CB. Embryonal malignancies of unknown primary origin in children. Cancer. 1995;75(1):115–21.CrossRefPubMed

18.

Rajwanshi A, Srinivas R, Upasana G. Malignant small round cell tumors. J Cytol. 2009;26(1):1–10.CrossRefPubMedPubMedCentral

19.

Walther C, Mayrhofer M, Nilsson J, Hofvander J, Jonson T, Madahl N, Ora I, Gisselsson D, Mertens F. Genetic heterogeneity rhabdomyosarcoma revealed by SNP array analysis. Genes Chromosomes Cancer. 2015;55(1):3–15.CrossRefPubMed

Title: Primary alveolar rhabdomyosarcoma of the bone: two cases and review of the literature
Authors: Petra Balogh
Rita Bánusz
Monika Csóka
Zsófia Váradi
Edit Varga
Zoltán Sápi
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: Diagnostic Pathology / Issue 1/2016
Electronic ISSN: 1746-1596
DOI: https://doi.org/10.1186/s13000-016-0552-9

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Primary alveolar rhabdomyosarcoma of the bone: two cases and review of the literature

Abstract

Background

Case presentation

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusions

Please log in to get access to this content

Other articles of this Issue 1/2016

Abnormal villous morphology mimicking a hydatidiform mole associated with paternal trisomy of chromosomes 3,7,8 and unipaternal disomy of chromosome 11

Retraction note: Histopathological and clinical evaluation of Kombucha tea and Nitrofurazone on cutaneous full-thickness wounds healing in rats: an experimental study

Increasing diagnostic accuracy to grade dysplasia in Barrett’s esophagus using an immunohistochemical panel for CDX2, p120ctn, c-Myc and Jagged1

Intraoperative fine needle aspirations - diagnosis and typing of lung cancer in small biopsies: challenges and limitations

Ectopic adrenocortical adenoma in the renal hilum: a case report and literature review

Severe active C3 glomerulonephritis triggered by immune complexes and inactivated after eculizumab therapy