BACKGROUND: Primary breast sarcoma (PBS) is rare, comprising approximately 1% of breast malignancies. Rhabdomyosarcoma (RMS) accounts for an extremely small proportion of PBSs, often leading to delayed histologic confirmation. METHODS: Upon reviewing Asan Medical Center’s pathology database between 2000 and 2018, 41 PBS cases were retrieved, including three cases of primary RMS of the breast. Their clinicopathological features were analyzed, and the literature related to PBS and primary RMS of the breast was reviewed. RESULTS: We identified three primary breast RMS cases from our institution database, comprising 7.3% of PBS: one case each of spindle cell/sclerosing RMS (ssRMS), alveolar RMS (aRMS), and embryonal RMS (eRMS). All cases involved adolescents or young adults (14, 16, and 25 years, respectively) who underwent mastectomy or radiotherapy and were confirmed using immunohistochemical testing for myogenin, desmin, and myogenic differentiation. The ssRMS patient experienced recurrence at the operation site 4 months post-surgery despite undergoing concurrent chemoradiotherapy. The aRMS patient had multiple metastases at diagnosis and showed FAX3-FOXO1 fusion transcripts; she died 22 months after the diagnosis. The eRMS patient had enlarged axillary lymph nodes; post-radiotherapy, the lesion recurred as multiple metastases to the bone and lung. She died 18 months post-diagnosis. CONCLUSIONS: Our experience on RMS cases suggests that spindle cell or small round cell malignancy in breasts of young female should raise suspicion for the possibility of primary or secondary RMS. To our knowledge, this is the second report of primary breast ssRMS and it may help clinicians who encounter this rare disease in the future.
Adolescent ; Arm ; Breast ; Chemoradiotherapy ; Chungcheongnam-do ; Desmin ; Diagnosis ; Female ; Humans ; Lung ; Lymph Nodes ; Mastectomy ; Myogenin ; Neoplasm Metastasis ; Pathology ; Radiotherapy ; Rare Diseases ; Recurrence ; Rhabdomyosarcoma ; Sarcoma ; Young Adult

Adult ; Asian Continental Ancestry Group ; Biopsy, Needle ; Disease Progression ; Erythema ; complications ; physiopathology ; Female ; Foot Dermatoses ; complications ; diagnosis ; pathology ; Hand Dermatoses ; complications ; diagnosis ; pathology ; Humans ; Immunohistochemistry ; Pemphigus ; diagnosis ; pathology ; Prognosis ; Pruritus ; complications ; physiopathology ; Rare Diseases ; Singapore ; Syndrome

There has been significant progress in the understanding of the pathology and molecular biology of rare ovarian cancers, which has helped both diagnosis and treatment. This paper provides an update on recent advances in the knowledge and treatment of rare ovarian cancers and identifies gaps that need to be addressed by further clinical research. The topics covered include: low-grade serous, mucinous, and clear cell carcinomas of the ovary. Given the molecular heterogeneity and the histopathological rarity of these ovarian cancers, the importance of designing adequately powered trials or finding statistically innovative ways to approach the treatment of these rare tumors has been emphasized. This paper is based on the Rare Ovarian Tumors Conference for Young Investigators which was presented in Tokyo 2015 prior to the 5th Ovarian Cancer Consensus Conference of the Gynecologic Cancer InterGroup (GCIG).
Consensus ; Diagnosis ; Female ; Humans ; Molecular Biology ; Mucins ; Ovarian Neoplasms* ; Ovary ; Pathology ; Population Characteristics ; Rare Diseases ; Research Personnel*

OBJECTIVE: Spinal intramedullary tuberculoma (SIMT) is rare, accounting for 2/100,000 cases of tuberculosis and only 0.2% of all cases of central nervous system(CNS) tuberculosis. We share our experiences of 11 cases of this entity for improving diagnosis and conceptualize the management of this rare disease. METHODS: The clinical profile, radiological data and management of 11 cases of SIMT which were managed either conservatively or by surgical intervention during last 27 years (1987-2014) were analysed. RESULTS: Male:female ratio was 1.75:1. Five cases had associated pulmonary Koch's. Most common site was thoracic cord. Two cases had concurrent multiple intracranial tuberculoma. Most common presentation was paraparesis. X-ray myelography was performed in two patients in the initial period of study suggesting intramedullary pathology. In the subsequent nine cases who had magnetic resonance imaging (MRI), seven showed typical "target sign" and conglomerate ring lesion. Out of 8 surgically managed patients, 6 cases improved rapidly and in 2 patients gradual improvement was seen in follow-up. Most common indication of surgical excision was rapid neurological deterioration followed by diagnosis in doubt. Histopathology confirmed tuberculous etiology of the intramedullary lesion in all. Clinical and radiological improvement was seen in all 3 conservatively managed patients in follow-up. CONCLUSION: MRI findings of SIMT were specific and proven histologically correct. Surgical intervention may be indicated if there is no response to chemotherapy, the diagnosis is in doubt, or there is a rapid deterioration in neurological function because surgical outcome is good in these circumstances.
Diagnosis ; Drug Therapy ; Follow-Up Studies ; Humans ; Magnetic Resonance Imaging ; Myelography ; Paraparesis ; Pathology ; Rare Diseases ; Tuberculoma* ; Tuberculoma, Intracranial ; Tuberculosis

An epidermoid cyst arising from intrapancreatic accessory spleen (ECIPAS) is a rare disease. Most patients with an ECIPAS are detected incidentally and could be misdiagnosed as a pancreatic cystic neoplasm such as mucinous cystic neoplasm (MCN) or intraductal p ancreatic mucinous neoplasm (IPMN). We described an ECIPAS with high cystic fluid carcinoembryonic antigen (CEA), which was misdiagnosed as a MCN of pancreas. Fifty one-year-old female was presented with a 2 cm sized non-enhancing pancreas cystic mass on the outside CT scan. Endoscpic ultrasonography (EUS) guided aspiration was performed. It showed a 2.3 x 1.9 cm unilocular cyst nearby 1.6 x 1.1 cm homogenous hypoechoic mass in pancreas tail, and cystic fluid CEA was 1564.18 ng/mL. On the basis of EUS results with elevated fluid CEA level, the presumptive diagnosis is likely to MCN of pancreas, and she underwent a laparoscopic distal pancreatectomy. The final pathology was the epidermal cyst in the intrapancreatic accessory spleen.
Carcinoembryonic Antigen ; Diagnosis ; Epidermal Cyst* ; Female ; Humans ; Mucins* ; Pancreas* ; Pancreatectomy ; Pancreatic Cyst ; Pathology ; Rare Diseases ; Spleen* ; Tomography, X-Ray Computed ; Ultrasonography

Multiple symmetric lipomatosis (MSL), or Madelung's disease, is a rare disease of unknown etiology. It is characterized by the presence of loose adipose tissue deposits localized in the cervical region and upper body. MSL presenting as bilateral huge gynecomastia is an extremely rare phenomenon. The present report describes a case of MSL in a 66-year-old man. The patients presented with bilateral breast bulging. He had a history of cigarette and alcohol use. His condition was treated with a bilateral nipple-sparing mastectomy. MSL can present as a form of gynecomastia, for its accurate diagnosis and proper treatment of MSL, increasing awareness of the clinical characteristics of the disease is required, especially amongst breast surgeons. Herein, we review the literature and discuss the clinical characteristics, pathology, and surgical treatment of MSL.
Adipose Tissue ; Aged ; Breast ; Diagnosis ; Gynecomastia* ; Humans ; Lipomatosis ; Lipomatosis, Multiple Symmetrical* ; Male ; Mastectomy ; Pathology ; Rare Diseases ; Tobacco Products

Alveolar soft part sarcoma (ASPS) is an extremely rare malignant soft tissue sarcoma primarily affecting young patients. It usually occurs in the lower extremities, although it can occur in soft tissue anywhere in the body. However, to our knowledge, there has been no case of primary ASPS originating from the kidney in the literature. We herein present the imaging and clinical features of an ASPS which occurred in a 16-year-old male presented as a palpable mass in the left side of the abdomen.
Adolescent ; Biopsy ; Diagnostic Imaging/methods ; Humans ; Kidney/pathology ; Kidney Neoplasms/*diagnosis/pathology ; Male ; Rare Diseases/*diagnosis/pathology ; Sarcoma, Alveolar Soft Part/*diagnosis/pathology

Diffuse pulmonary lymphangiomatosis (DPL) is a rare lymphatic disorder characterized by lymphatic channel proliferation. It is mostly reported in children and young adults. Here, we report a case involving a 52-year-old asymptomatic woman who presented with increased interstitial markings, as seen on a chest radiograph. Diffuse interstitial septal thickening was found on a serial follow-up chest computed tomography scan, and lymphangitic metastasis was the primary radiologic differential diagnosis. However, histologic sections of wedge resected lung revealed diffuse pleural and interlobular septal lymphatic proliferation characteristic of DPL.
Diagnosis, Differential ; Female ; Humans ; Lung Neoplasms/pathology/*radiography ; Lymphangioma/pathology/*radiography ; Middle Aged ; Rare Diseases/pathology/*radiography ; Tomography, X-Ray Computed

We report a case of a 74-year-old female with myxoid adrenocortical adenoma which showed different magnetic resonance imaging findings compared to those of a typical adrenocortical adenoma. The myxoid change in the adrenocortical adenoma is a rare form of degeneration. It presents a considerable diagnostic challenge to both radiologists and clinicians because it can mimic other adrenal tumor types on imaging. The MRI findings of the presented case included a high signal intensity on T2-weighted images similar to that of fluid and delayed progressive enhancement.
Adenoma/*diagnosis/pathology ; Adrenal Gland Neoplasms/*diagnosis/pathology ; Adrenocortical Adenoma/*diagnosis/pathology ; Aged ; Diagnosis, Differential ; Female ; Humans ; Magnetic Resonance Imaging ; Rare Diseases/*diagnosis/pathology

Intra-articular haemangioma is a rare and uncommon condition that sometimes presents in infants. The lesion can be a diagnostic challenge, with misdiagnosis often leading to delayed diagnosis and treatment. It is essential to establish and treat the condition early, as intra-articular haemangioma can lead to destruction of the joint and secondary arthrosis. Herein, we report the case of a five-year-old boy who presented with intra-articular haemangioma and discuss the management of his condition.
Arthralgia ; physiopathology ; Biopsy, Needle ; Child, Preschool ; Follow-Up Studies ; Hemangioma ; diagnosis ; pathology ; surgery ; Humans ; Immunohistochemistry ; Joint Capsule ; pathology ; surgery ; Knee Joint ; pathology ; surgery ; Magnetic Resonance Imaging ; methods ; Male ; Orthopedic Procedures ; methods ; Rare Diseases ; Risk Assessment ; Synovectomy ; Synovial Membrane ; pathology ; Treatment Outcome