Synchronous breast cancer and alveolar rhabdomyosarcoma bone marrow metastases

Shah, Ami N.; Weber, Jonathon; Floerke, Angelique; Blanco, Luis Z.; Santa-Maria, Cesar Augusto; Aguinik, Mark; Bhole, Sonya

doi:10.1016/j.radcr.2018.03.003

Cited by 4 publications

(3 citation statements)

References 21 publications

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“…Up to 35% of patients with colorectal cancer have a family history of the disease, suggesting a hereditary predisposition, while only 10% of breast cancer are familial in nature [3]. Different malignancies have been diagnosed in coexistence with breast cancer, such as lymphoma, renal, prostate, esophagus, urinary bladder, uterus, thyroid, colon, melanoma, lung, gastrointestinal stromal tumor (GIST), rhabdomyosarcoma, and ovarian carcinoma [2,[4][5][6][7].…”

Section: Discussionmentioning

confidence: 99%

The Rare Diagnosis of Synchronous Breast and Colonic Cancers: A Case Report and Review of Literature

Asaad¹,

Barron²,

Rasheed³

et al. 2021

Cureus

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Any two or more primary malignant tumors, in which each tumor is not an extension, recurrence, or metastasis of the other lesion, are defined or described as multiple primary malignant neoplasms (MPMN). These tumors are increasingly diagnosed despite their rare occurrence rate. The term synchronous tumors is applied if two different tumors originating in the same patient are detected at the same time or within six months; if the second tumor is detected beyond six months, it is called metachronous. Aetiological factors that may predispose patients to MPMNs have been grouped into three broad categories: familial cancer syndromes and other genetic susceptibility factors, common exposures (e.g. tobacco), and carcinogenic effects of cancer treatment. The likelihood of missing asymptomatic synchronous tumors at the time of diagnosis is due to a lack of definitively set guidelines for synchronous tumors. Studying every individual case may aid us in understanding disease biology, developing diagnostic guidelines, and establishing patient-specific management strategies. We present a case report of synchronous breast and colonic cancer in a female patient.

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Section: Discussionmentioning

confidence: 99%

The Rare Diagnosis of Synchronous Breast and Colonic Cancers: A Case Report and Review of Literature

Asaad¹,

Barron²,

Rasheed³

et al. 2021

Cureus

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“…Sailer (1937)[9] gave an account of a rhabdomyosarcoma which occurred in the breast of a coloured woman aged 38 years. A case of a 66-year-old woman with two different solid primary cancers (breast and RMS) with synchronous bone marrow metastases has recently been reported in the literature [10]. To the best of our knowledge, there are only nine cases of primary RMS of the breast in adults, reported in international journals [1, 2, 11–16].…”

Section: Discussionmentioning

confidence: 99%

Primary Alveolar Rhabdomyosarcoma of the Breast in an Adult: An Extremely Rare Case

Trihia

Novkovic

Provatas

et al. 2019

Case Reports in Pathology

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Sarcomas of the breast constitute less than 1% of all malignant breast tumors and primary rhabdomyosarcoma (RMS) is a very rare entity with limited case reports in the literature. RMS is common in children and adolescents and rare in adults. Primary RMS arising from the breast is exceedingly rare in adults. We report a case of a primary RMS of the breast in a 60-year-old woman, who presented in an early stage, mimicking invasive ductal carcinoma clinically and is in complete remission after three years of diagnosis and one year of treatment.

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“…In contrast, bone marrow metastasis is uncommon, occurring in only 6% of all RMS cases [ 3 ]. Due to the atypical clinical features and bone marrow pathology, most patients are misdiagnosed with haematological malignancies or other solid tumours at initial diagnosis presentation, and these results in delayed treatment [ 4 ]. More notably, those patients often present with highly aggressive disease and poor prognosis, they either do not respond to conventional therapies or relapse after treatment [ 5 ].…”

Section: Introductionmentioning

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

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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.

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Synchronous breast cancer and alveolar rhabdomyosarcoma bone marrow metastases

Cited by 4 publications

References 21 publications

The Rare Diagnosis of Synchronous Breast and Colonic Cancers: A Case Report and Review of Literature

The Rare Diagnosis of Synchronous Breast and Colonic Cancers: A Case Report and Review of Literature

Primary Alveolar Rhabdomyosarcoma of the Breast in an Adult: An Extremely Rare Case

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

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