Solid Variant of Alveolar Rhabdomyosarcoma Mimicking Non-Hodgkin Lymphoma

Ganesan, Prasanth; Thulkar, Sanjay; Rajan, Anand; Bakhshi, Sameer

doi:10.1097/mph.0b013e318180bb5e

Cited by 8 publications

(7 citation statements)

References 20 publications

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“…The tumor cells of some SRCTs, particularly the solid variant of alveolar rhabdomyosarcomas, resemble lymphoblastic leukemic cells or non-Hodgkin’s lymphoma [ 61 , 62 ]. Conversely, dense infiltrates of relatively small undifferentiated tumor cells of uncertain origin, which mimic undifferentiated sarcoma, may be the first presentation of hematologic and lymphoid malignancies [ 63 ].…”

Section: Srct Of Hematologic Malignanciesmentioning

confidence: 99%

Utility of Transmission Electron Microscopy in Small Round Cell Tumors

Kim

Cho³

2015

J Pathol Transl Med

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Small round cell tumors (SRCTs) are a heterogeneous group of neoplasms composed of small, primitive, and undifferentiated cells sharing similar histology under light microscopy. SRCTs include Ewing sarcoma/peripheral neuroectodermal tumor family tumors, neuroblastoma, desmoplastic SRCT, rhabdomyosarcoma, poorly differentiated round cell synovial sarcoma, mesenchymal chondrosarcoma, small cell osteosarcoma, small cell malignant peripheral nerve sheath tumor, and small cell schwannoma. Non-Hodgkin’s malignant lymphoma, myeloid sarcoma, malignant melanoma, and gastrointestinal stromal tumor may also present as SRCT. The current shift towards immunohistochemistry and cytogenetic molecular techniques for SRCT may be inappropriate because of antigenic overlapping or inconclusive molecular results due to the lack of differentiation of primitive cells and unavailable genetic service or limited moleculocytogenetic experience. Although usage has declined, electron microscopy (EM) remains very useful and shows salient features for the diagnosis of SRCTs. Although EM is not always required, it provides reliability and validity in the diagnosis of SRCT. Here, the ultrastructural characteristics of SRCTs are reviewed and we suggest that EM would be utilized as one of the reliable modalities for the diagnosis of undifferentiated and poorly differentiated SRCTs.

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Section: Srct Of Hematologic Malignanciesmentioning

confidence: 99%

Utility of Transmission Electron Microscopy in Small Round Cell Tumors

Kim

Cho³

2015

J Pathol Transl Med

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“…Although, this can have a strong resemblance with lymphoma, presence of strap cells and multinucleated giant cells with deeply eosinophilic cytoplasm is a characteristic finding in alveolar RMS. Solid variant of alveolar RMS with unknown primary has been reported[ 7 8 ] in few studies.…”

Section: Discussionmentioning

confidence: 99%

“…A common site for occult primary is the perirectal and perineal region. [ 1 ] In one of the study, the primary site of solid variant of alveolar RMS was located in lower extremity[ 7 ] and in another the primary could not be located. [ 8 ] In our case, the primary site was found in the forearm.…”

Section: Discussionmentioning

confidence: 99%

Lymphadenopathic form of solid variant of alveolar rhabdomyosarcoma: A rare case report

Sharma

Bhargava

Sharma

et al. 2014

J Cytol

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“…16,17 Solid variant of alveolar rhabdomyosarcoma is rare and sometimes mimics other malignancies. 34 The 12 cases in the literature since 1994 including the current one are summarized in Supplementary Table 1. 34,39-46 Fusion gene status was known for 11 patients: eight had PAX3-FOXO1, one had PAX7-FOXO1, and one (the current one) had FGFR1-FOXO1 fusion.…”

Section: Discussionmentioning

confidence: 99%

FOXO1–FGFR1 fusion and amplification in a solid variant of alveolar rhabdomyosarcoma

et al. 2011

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Rhabdomyosarcoma is the most common pediatric soft tissue malignancy. Two major subtypes, alveolar rhabdomyosarcoma and embryonal rhabdomyosarcoma, constitute 20 and 60% of all cases, respectively. Approximately 80% of alveolar rhabdomyosarcoma carry two signature chromosomal translocations, t(2;13)(q35;q14) resulting in PAX3-FOXO1 fusion, and t(1;13)(p36;q14) resulting in PAX7-FOXO1 fusion. Whether the remaining cases are truly negative for gene fusion has been questioned. We are reporting the case of a 9-month-old girl with a metastatic neck mass diagnosed histologically as solid variant alveolar rhabdomyosarcoma. Chromosome analysis showed a t(8;13;9)(p11.2;q14;9q32) three-way translocation as the sole clonal aberration. Fluorescent in situ hybridization (FISH) demonstrated a rearrangement at the FOXO1 locus and an amplification of its centromeric region. Single-nucleotide polymorphism-based microarray analysis illustrated a co-amplification of the FOXO1 gene at 13q14 and the FGFR1 gene at 8p12p11.2, suggesting formation and amplification of a chimerical FOXO1-FGFR1 gene. This is the first report to identify a novel fusion partner FGFR1 for the known anchor gene FOXO1 in alveolar rhabdomyosarcoma. Rhabdomyosarcoma accounts for 4-10% of pediatric malignancies. Four pathological subtypes have been traditionally defined: alveolar rhabdomyosarcoma, embryonal rhabdomyosarcoma, botyroid rhabdomyosarcoma, and pleiomorphic rhabdomyosarcoma. 1,2 Alveolar rhabdomyosarcoma and embryonal rhabdomyosarcoma have distinct clinical manifestations, biological behavior, genetic alterations, and account for B20 and B60% of all cases, respectively. 1 Alveolar rhabdomyosarcoma is most often seen in older children and is associated with a poor outcome, while embryonal rhabdomyosarcoma primarily occurs in children younger than 4 years of age and is usually associated with a better prognosis. 2 A rare solid variant of alveolar rhabdomyosarcoma has been described that is often morphologically indistinguishable from poorly differentiated embryonal rhabdomyosarcoma and may be confused with other 'small, round, blue cell tumors'. 3 A study of a large pediatric cohort of 171 patients with rhabdomyosarcoma by the children's oncology group (COG) has demonstrated the role of genetics in the development of rhabdomyosarcoma. 4 In the subtype of alveolar rhabdomyosarcoma, approximately 80% of cases harbored two signature chromosomal translocations, t(2;13)(q35;q14) in 60%, and t(1;13) (p36;q14) in 20% of cases. These translocations resulted in the formation and overexpression of chimerical genes PAX3-FOXO1

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Solid Variant of Alveolar Rhabdomyosarcoma Mimicking Non-Hodgkin Lymphoma

Cited by 8 publications

References 20 publications

Utility of Transmission Electron Microscopy in Small Round Cell Tumors

Utility of Transmission Electron Microscopy in Small Round Cell Tumors

Lymphadenopathic form of solid variant of alveolar rhabdomyosarcoma: A rare case report

FOXO1–FGFR1 fusion and amplification in a solid variant of alveolar rhabdomyosarcoma

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