Primary Alveolar Rhabdomyosarcoma of the Breast in a 17-Year-Old Girl

Mance, Marko; Smuđ-Orehovec, Sanda; Vrbanović-Mijatović, Vilena; Mijatović, Davor

doi:10.1200/jop.19.00476

Cited by 6 publications

(5 citation statements)

References 12 publications

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“…RMS is a malignant mesenchymal tumor that accounts for <1% of all mesenchymal tumors in the gastrointestinal system (8). RMS of the stomach is extremely rare, with only four previously published cases (4-7).…”

Section: Discussionmentioning

confidence: 99%

Primary alveolar rhabdomyosarcoma in the stomach of an adult: A case report

2023

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Alveolar rhabdomyosarcoma (ARMS) is more common in children and rare in adults. A small number of cases in the stomach of an adult have been documented. The present study describes a case of primary gastric ARMS in a 20-year-old healthy female. The patient was admitted to Handan Central Hospital (Handan, China) with intermittent abdominal pain for >1 month, which was noticeable and progressively worsened after meals, with black stools. Gastroscopy revealed a 2.5-cm ulcer on the side of the greater curvature of the gastric body, and a pathological biopsy revealed a neuroendocrine neoplasm. An enhanced abdominal computed tomography (CT) scan indicated a thickening and an ulcerated mass measuring ~4.5x2.0 cm at the gastric body, with the tumor showing poor enhancement. Finally, a laparoscopic distal gastrectomy was performed. The postoperative pathology combined with immunohistochemical staining indicated that the patient had primary alveolar RMS of the stomach. The present case suggests that an early diagnosis of gastric adenoid RMS is extremely difficult. However, this disease must be investigated in any young person who presents with a gastric mass. The current study presents a rare case of primary ARMS occurring in the stomach; however, more research on this disease is necessary to improve the clinical diagnosis and treatment.

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Section: Discussionmentioning

confidence: 99%

Primary alveolar rhabdomyosarcoma in the stomach of an adult: A case report

2023

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“…Therefore, Mance et al. harvested and frozon the ova of a 17-year-old patient diagnosed as primary breast RMS before the initiation of adjuvant chemotherapy ( 44 ). In addition, cisplatin chemotherapy-related hearing loss was also reported and should be paid attention to in the clinical practice ( 45 ).…”

Section: Discussionmentioning

confidence: 99%

Case Report: A 13-year-old adolescent diagnosed as malignant phyllodes tumor combined with rhabdomyosarcoma differentiation

Lian,

Gao,

Yao

et al. 2023

Front. Oncol.

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Phyllodes tumor (PT) is an infrequent type of breast neoplasm, constituting a mere 0.5%–1.5% of the entirety of breast tumors. The malignant phyllodes tumor (MPT) comprises only 15% of all phyllodes tumors, and its transformation into rhabdomyosarcoma (RMS) is exceedingly rare in clinical practice. Given its insensitivity to chemotherapy and radiotherapy, treatment options for MPT patients are limited, leaving complete surgical resection as the only option. Therefore, it is imperative to investigate the effective utilization of the heterogeneous differentiation characteristics of MPT to expand treatment alternatives for these patients. In this case report, we represent a 13-year-old adolescent diagnosed with giant breast MPT with RMS differentiation and pulmonary metastasis. The initial step in the treatment process involved radical surgical resection, followed by the administration of four cycles of VDC/IC chemotherapy, which is widely recognized as the standard chemotherapy for RMS. Regrettably, the delay in initiating chemotherapy resulted in minimal observable changes in the size of the pulmonary metastatic nodule. Additionally, a comprehensive literature review on the characterization of MPT with heterogeneous differentiation was conducted to enhance comprehension of the diagnosis and treatment of this uncommon disease in clinical practice. Meanwhile, this case also reminds the doctors that when we diagnose a patient as MPT, it is crucial to consider its heterogenous nature and promptly initiate adjuvant treatment. By targeting the differentiation element of MPT, it becomes feasible to overcome the previously perceived limitation of surgical intervention as the sole treatment option.

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“…To the best of our knowledge, none of the 30 cases of breast RMS, which were previously published in existing English literature[ 2 ], were reported in males, despite the fact that the RMSs with other localizations, such as those of the head and neck region, are mostly found in men[ 6 , 7 ].…”

Section: Discussionmentioning

confidence: 99%

“…The majority of RMS cases affect the soft tissue of the head and neck (35%-40% of cases), followed by the genitourinary system (25%), trunk and extremities (with 20%)[ 3 ]. RMSs which occur in the mammary region are exceedingly rare, with less than 30 cases reported up to February 2020[ 2 ].…”

Section: Introductionmentioning

confidence: 99%

Primary rhabdomyosarcoma: An extremely rare and aggressive variant of male breast cancer

Satala¹,

Jung

Bara³

et al. 2020

WJCC

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BACKGROUND Rhabdomyosarcoma (RMS) of the breast, a mesenchymal neoplasm with skeletal muscle differentiation, is an extremely rare tumour in males, with less than 30 cases published in English-language literature. We report on the first case of a male breast RMS, with an unusual ectomesenchymal/neuroectodermal component. CASE SUMMARY A 55-year-old, previously healthy male, underwent a radical left mastectomy for an ulcerated tumour mass, occupying the breast and left anterior thoracic wall. The biopsy specimen indicated the presence of a tumour with neural origins, namely a peripheral neuroectodermal tumour (PNET). The surgical specimens identified two components. The rhabdomyosarcomatous component (over 70%) was represented by large pleomorphic cells with positivity for desmin, sarcomeric actin and myogenin. The PNET-like ectomesenchymal component, which was admixed with the RMS cells, and was also revealed during the preoperative biopsy, consisted of small cells which expressed neurofilament, neuron specific enolase and CD99. The microscopic examination, along with the immunohistochemical profile, allowed the diagnosis of an RMS, with unusual ectomesenchymal differentiation. The patient refused the postoperative oncologic therapy and died three months after surgery. CONCLUSION In patients with RMS of the breast, the PNET-like ectomesenchymal component increases the diagnosis difficulty, especially in biopsy specimens. This differentiation can be immunohistochemically proven and might highlight the possible development of high-grade sarcoma of the breast from remnants of the embryological ectodermal layer.

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Primary Alveolar Rhabdomyosarcoma of the Breast in a 17-Year-Old Girl

Cited by 6 publications

References 12 publications

Primary alveolar rhabdomyosarcoma in the stomach of an adult: A case report

Primary alveolar rhabdomyosarcoma in the stomach of an adult: A case report

Case Report: A 13-year-old adolescent diagnosed as malignant phyllodes tumor combined with rhabdomyosarcoma differentiation

Primary rhabdomyosarcoma: An extremely rare and aggressive variant of male breast cancer

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