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Complete mimicry: a case of alveolar rhabdomyosarcoma masquerading as acute leukemia

BACKGROUND: A small number of rhabdomyosarcoma (RMS) cases involve the bone marrow. A leukemic presentation of RMS has been reported in a few case series, although almost all cases of leukemic RMS are not completely mimicking leukemia. We encountered a case with RMS cell infiltration of the bone mar...

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Autores principales: Imataki, Osamu, Uemura, Makiko, Uchida, Shumpei, Yokokura, Shigeyuki, Takeuchi, Akihiro, Ishikawa, Ryo, Kondo, Akihiro, Seo, Kayoko, Kadowaki, Norimitsu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5669030/
https://www.ncbi.nlm.nih.gov/pubmed/29096655
http://dx.doi.org/10.1186/s13000-017-0667-7
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author Imataki, Osamu
Uemura, Makiko
Uchida, Shumpei
Yokokura, Shigeyuki
Takeuchi, Akihiro
Ishikawa, Ryo
Kondo, Akihiro
Seo, Kayoko
Kadowaki, Norimitsu
author_facet Imataki, Osamu
Uemura, Makiko
Uchida, Shumpei
Yokokura, Shigeyuki
Takeuchi, Akihiro
Ishikawa, Ryo
Kondo, Akihiro
Seo, Kayoko
Kadowaki, Norimitsu
author_sort Imataki, Osamu
collection PubMed
description BACKGROUND: A small number of rhabdomyosarcoma (RMS) cases involve the bone marrow. A leukemic presentation of RMS has been reported in a few case series, although almost all cases of leukemic RMS are not completely mimicking leukemia. We encountered a case with RMS cell infiltration of the bone marrow that resembled floating hematological cells. CASE PRESENTATION: We encountered a rare case of a 15-year-old boy with a 2-week history of left femoral pain. Upon admission, he was afebrile with no other symptoms. No apparent cause of femoral pain was detected on an initial examination. Laboratory findings revealed normal white blood cell (WBC) count and hemoglobin concentration, with a platelet count of 10.3 × 10(4)/μL. WBCs included 2.0% metamyelocytes, 4.5% myelocytes, and 0.5% blasts. Lactate dehydrogenase concentration was 1299 U/L, creatine kinase was 437 U/L, and C-reactive protein was 1.25 mg/dL. Bone marrow aspiration demonstrated hypercellular marrow (nucleated cell count 1.84 × 10(4)/μL) and 89.0% of blast-like cells of all nucleated cells. The proliferating cells were negative for myeloperoxidase and esterase, and strongly positive for CD56. Positron emission tomography exhibited extensive accumulation of (18)F–fludeoxyglucose with a SUVmax of 7.09. Magnetic resonance imaging revealed T1-low intensity, gadolinium-enhanced, diffuse, and irregular lesions on his pelvis and bilateral femurs. These laboratory and imaging findings suggested hematological malignancy with diffuse bone involvement, suggestive of acute leukemia. However, the pathological diagnosis of bone marrow and basal penile muscle biopsy was alveolar RMS. Karyotype analysis of bone marrow cells revealed the characteristic translocation of t(2;13)(q35;q14). The final diagnosis was alveolar RMS with massive involvement of the bone marrow and the primary site in the perineal muscles. The tumor cells both of the primary site and bone marrow were positive for myogenin. CONCLUSIONS: A literature review found a misdiagnosed case of completely mimicking leukemic RMS as natural-killer (NK)-cell leukemia. Such a misdiagnosis can have critical consequences. We experienced a rare case of alveolar RMS with symmetrical diffuse bone marrow involvement completely masquerading as acute leukemia. The results of a surface marker study showing that the tumor cells had a near NK-cell phenotype were misleading.
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spelling pubmed-56690302017-11-15 Complete mimicry: a case of alveolar rhabdomyosarcoma masquerading as acute leukemia Imataki, Osamu Uemura, Makiko Uchida, Shumpei Yokokura, Shigeyuki Takeuchi, Akihiro Ishikawa, Ryo Kondo, Akihiro Seo, Kayoko Kadowaki, Norimitsu Diagn Pathol Case Report BACKGROUND: A small number of rhabdomyosarcoma (RMS) cases involve the bone marrow. A leukemic presentation of RMS has been reported in a few case series, although almost all cases of leukemic RMS are not completely mimicking leukemia. We encountered a case with RMS cell infiltration of the bone marrow that resembled floating hematological cells. CASE PRESENTATION: We encountered a rare case of a 15-year-old boy with a 2-week history of left femoral pain. Upon admission, he was afebrile with no other symptoms. No apparent cause of femoral pain was detected on an initial examination. Laboratory findings revealed normal white blood cell (WBC) count and hemoglobin concentration, with a platelet count of 10.3 × 10(4)/μL. WBCs included 2.0% metamyelocytes, 4.5% myelocytes, and 0.5% blasts. Lactate dehydrogenase concentration was 1299 U/L, creatine kinase was 437 U/L, and C-reactive protein was 1.25 mg/dL. Bone marrow aspiration demonstrated hypercellular marrow (nucleated cell count 1.84 × 10(4)/μL) and 89.0% of blast-like cells of all nucleated cells. The proliferating cells were negative for myeloperoxidase and esterase, and strongly positive for CD56. Positron emission tomography exhibited extensive accumulation of (18)F–fludeoxyglucose with a SUVmax of 7.09. Magnetic resonance imaging revealed T1-low intensity, gadolinium-enhanced, diffuse, and irregular lesions on his pelvis and bilateral femurs. These laboratory and imaging findings suggested hematological malignancy with diffuse bone involvement, suggestive of acute leukemia. However, the pathological diagnosis of bone marrow and basal penile muscle biopsy was alveolar RMS. Karyotype analysis of bone marrow cells revealed the characteristic translocation of t(2;13)(q35;q14). The final diagnosis was alveolar RMS with massive involvement of the bone marrow and the primary site in the perineal muscles. The tumor cells both of the primary site and bone marrow were positive for myogenin. CONCLUSIONS: A literature review found a misdiagnosed case of completely mimicking leukemic RMS as natural-killer (NK)-cell leukemia. Such a misdiagnosis can have critical consequences. We experienced a rare case of alveolar RMS with symmetrical diffuse bone marrow involvement completely masquerading as acute leukemia. The results of a surface marker study showing that the tumor cells had a near NK-cell phenotype were misleading. BioMed Central 2017-11-02 /pmc/articles/PMC5669030/ /pubmed/29096655 http://dx.doi.org/10.1186/s13000-017-0667-7 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Imataki, Osamu
Uemura, Makiko
Uchida, Shumpei
Yokokura, Shigeyuki
Takeuchi, Akihiro
Ishikawa, Ryo
Kondo, Akihiro
Seo, Kayoko
Kadowaki, Norimitsu
Complete mimicry: a case of alveolar rhabdomyosarcoma masquerading as acute leukemia
title Complete mimicry: a case of alveolar rhabdomyosarcoma masquerading as acute leukemia
title_full Complete mimicry: a case of alveolar rhabdomyosarcoma masquerading as acute leukemia
title_fullStr Complete mimicry: a case of alveolar rhabdomyosarcoma masquerading as acute leukemia
title_full_unstemmed Complete mimicry: a case of alveolar rhabdomyosarcoma masquerading as acute leukemia
title_short Complete mimicry: a case of alveolar rhabdomyosarcoma masquerading as acute leukemia
title_sort complete mimicry: a case of alveolar rhabdomyosarcoma masquerading as acute leukemia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5669030/
https://www.ncbi.nlm.nih.gov/pubmed/29096655
http://dx.doi.org/10.1186/s13000-017-0667-7
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