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Distinct lesions are derived from notochordal cells (NCDL), ranging from benign to malignant ones. This study presents fifty NCDL cases diagnosed in a tertiary hospital of reference from the past 55 years: forty-two conventional chordomas, including one chondroid chordoma subtype, four benign notochordal cell tumors (BNCT), two conventional chordomas with BNCT foci, and two dedifferentiated chordomas. All patients were adults. Three BNCT were incidentally diagnosed, and one case presented local pain. Chordomas began with local pain and/or neurological symptoms. BNCT were well-defined intraosseous lesions, hypointense on T1-weighted images (WI) and hyperintense on T2-WI, without enhancement in the contrast. Conventional chordomas, including its chondroid subtype, were lobulated masses with cortical disruption and soft tissue extension, hypointense on T1-WI and hyperintense on T2-WI, with variable contrast enhancement. BNCT were histologically composed of solid sheets of vacuolated cells with clear cytoplasm and round and central nuclei. No atypia, lobular growth pattern, myxoid matrix, or bone infiltration were seen. Conventional chordomas were histologically composed of physaliphorous cells in a myxoid stroma with lobulated and infiltrating growth patterns. Observational follow-up using radiological controls was decided on for the BNCT cases. None of these cases presented local recurrence or metastasis. En-bloc resection and adjuvant radiotherapy were selected for sacral and vertebral chordoma cases. Sixteen patients died due to tumor-related factors; twenty-eight presented local recurrence, and four developed distant metastases. New therapeutic options are being studied for chordoma cases. Clinical, radiological, and histopathological data are necessary to properly diagnose and follow up of NCDL., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Non-immune hydrops fetalis represents the end-stage status of a variety of diseases, including metastatic tumors. We report a case of non-immune hydrops fetalis associated with multiple disseminated echogenic nodular lesions detected by ultrasound and confirmed by magnetic resonance. Cordocentesis demonstrated anemia and thrombopenia. Differential diagnosis included histiocytosis X, acute leukemia or metastatic disease. A stillbirth was diagnosed at week 25 + 6. The autopsy revealed hydrops fetalis, a right adrenal gland mass, multiple disseminated nodules histologically composed of small round blue cells positive for synaptophysin, and placental involvement, concordant findings with congenital undifferentiated neuroblastoma Stage M. No chromosomal abnormalities were associated, nor amplification abnormalities in MYCN and ALK genes. Metastatic neuroblastoma should be considered in the differential diagnosis of non-immune hydrops fetalis associated with multiple nodular lesions., (© 2024 Japan Society of Obstetrics and Gynecology.)

Introduction: A soft tissue aneurysmal bone cyst is an extremely rare tumor. The objective of the article is to present the clinical, radiological, and histopathological features of a very unusual neoplasm of soft tissues., Case Report: A 13-year-old male patient presented a painful, mobile, and rapidly growing mass on the posteromedial aspect of his left knee. Imaging studies revealed a mass that arose from the medial surface of the distal sartorius muscle, with extension to the subcutaneous fat tissue. It was a well-circumscribed solid tumor with a peripheral rim calcification on plain film, computerized tomography, and ultrasound (zonal phenomenon). On magnetic resonance imaging, a heterogenous mass on T1-weighted images (WI) and T2-WI was seen, with a peripheral hypointense rim in both sequences. An outstanding edema on T2-WI extending to the soft tissue and muscles of the medial compartment of the knee was detected. The mass was resected, and the "tumoral mimickers" histopathological and molecular (next-generation sequencing) diagnoses confirmed a soft tissue aneurysmal bone cyst. A follow-up showed that the patient was free of disease 12 months after surgery., Conclusion: Soft tissue aneurysmal bone cyst is a rare tumor. Appropriate clinical and radiological correlation should be performed to differentiate it from other tumor mimickers., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Giant cell tumor of the bone is a locally aggressive and rarely metastasizing tumor that typically affects the ends of long bones. Less than 1% of giant cell tumor of bone occur in the ribs. Our patients were a 32-year-old woman and a 45-year-old man and were detected following chest traumas. No bone alterations were detected in radiological studies performed immediately after local trauma. Six- and one- months, respectively, following chest trauma, both giant lytic heterogeneous masses arising on an anterior rib arc were radiologically observed. In the computerized tomography-guided needle biopsy, giant cell tumor of bone were diagnosed. Both tumors were completely removed by bloc resection including the adjacent ribs and posterior reconstruction were performed. One patient was preoperatively treated with denosumab. Neither local recurrences nor metastasis have been detected in follow-up. Despite its low frequency and its low degree of suspicion, giant cell tumor of bone should be included in the differential diagnosis of a rapid growing chest mass., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

We present the case of a 64-year-old female with personal history of breast carcinoma diagnosed in 2011, treated and discharged from the Oncology service after 10 years disease-free who, 21 years after the diagnosis, undergoes a colonoscopy with biopsy sampling due to a 2-year period of diarrhea and weight loss, which histological study show infiltration of the large intestine's by breast carcinoma. Due to the usual lymphatic widespread, metastases of breast cancer in the gastrointestinal tract are extremely rare with nonspecific symptoms, long latency periods and poor prognosis.

Periosteal Ewing sarcoma (ES) is an exceedingly rare topographic subtype of the ES. To our knowledge, only 60 patients have been reported in the medical English language literature. It predominantly affects men in the second decade of life and arises in the long tubular bone diaphysis. Periosteal ES rarely develops distant metastases. We report two patients of this rare ES location that were found on the distal tibial shaft and proximal femoral diaphysis of a 21-year-old man and an 8-year-old boy, respectively. Both patients were treated with neoadjuvant chemotherapy, wide resection, and adjuvant chemotherapy. One of our patients had lung metastases at the time of diagnosis and died 5 years later. The other patient presented intramedullary humeral bone metastasis 19 years after diagnosis. There has been no evidence of disease in the 26 years of follow-up. Close follow-up of periosteal ES is recommended because distant metastases may exceptionally occur, even several years after diagnosis., Competing Interests: Declaration of Conflicting InterestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Objective: Premature births are a health problem arising in triplet pregnancies, resulting in high levels of morbidity and mortality. The objective of this study is to evaluate the utility of cervical pessaries in reducing prematurity (<34 weeks) in triplet pregnancies., Methods: This is a single-center, retrospective case-control study regarding triplet pregnancies with follow-up at the La Paz University Hospital between 2000 and 2023. Maternal characteristics, obstetric and perinatal outcomes, and the use of cervical pessaries were examined., Results: 165 triplet pregnancies were analyzed: 87 (52.7 %) in the case group (premature triplet pregnancies) and 78 in the control group (non-premature triplet pregnancies). A cervical pessary was inserted in 15 (17.2 %) triplet pregnancies in the case group and in 12 (16.7 %) triplet pregnancies in the control group (p = 0.92; OR = 1.04 (0.46-2.35)). A pessary was later inserted in the non-premature group (p = 0.01). The risk of preterm labor and the use of tocolytics ± glucocorticoids were found to be significantly more frequent in the premature group, with p = 0.01; OR = 2.30 (1.21-4.36) and p < 0.01; OR = 2.36 (1.23-4.44), respectively. Protocol-based cesarean sections were more frequent in the non-premature group (p < 0.01), while cesarean sections due to maternal complications (p < 0.01) and premature membrane rupture (p < 0.01) were more frequent in the premature group., Conclusion: The cervical pessary is not useful in preventing preterm births (< 34 weeks) in triplet pregnancies. It is likely that being pregnant with triplets is a powerful independent factor associated with prematurity, despite other pregnancy conditions. Women who are pregnant with triplets and at risk of preterm labor and those taking tocolytics ± glucocorticoids may benefit from pessary insertion., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Research Question: Is there a difference in maternal, fetal, obstetric and neonatal outcomes for triplet pregnancies when comparing in vivo conceptions with those conceived by assisted reproductive technology (ART)?, Design: This single-centre, retrospective cohort study included all triplet pregnancies followed up at La Paz University Hospital, Madrid between 2000 and 2022. The characteristics of the pregnant women, and maternal, fetal, obstetric and perinatal outcomes were examined. Univariate and multivariate statistical analyses were performed., Results: In total, 234 triplet pregnancies were analysed: 92 in the natural and assisted insemination conception group (in-vivo conception) and 142 in the in vitro fertilization and intracytoplasmic sperm injection conception group (ART conception). ART triplet pregnancies were more common between 2000 and 2010 (P = 0.003). The percentage of monochorionic triamniotic pregnancies was significantly higher (P = 0.02) in the in-vivo conception group, and the percentage of dichorionic triamniotic pregnancies was significantly higher (P = 0.003) in the ART conception group. After adjusting for confounders, intrauterine growth restriction (IUGR) remained significantly more common in the ART conception group (adjusted odds ratio 8.65, 95% CI 1.66-45.03; P = 0.01). Differences in maternal age (P = 0.61), threatened preterm labour (P = 0.10), Apgar score ≤5 at 5 min (P = 0.99), umbilical cord pH <7.20 (P = 0.99) and fetal death (P = 0.99) disappeared after adjustment for confounders., Conclusion: ART triplet pregnancies had a higher rate of IUGR than in vivo triplet pregnancies. This could be related to higher maternal age, and higher rates of Apgar score ≤5 at 5 min and umbilical cord pH <7.20 in these pregnancies. In these cases, placental examination could provide valuable information., (Copyright © 2023 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.)

Aneurysmal bone cyst (ABC) is a relatively rare, benign bone tumor that occurs exceptionally in the hands and feet. The objective of this article is to present clinical, radiological, histopathological features and management of a series of 14 primary ABC cases in these unusual locations. Eight cases occurred in hands and six in feet. We present the first reported subungual case to occur in the hand. The average age of the patients was 26 years (range 7 to 49), with half being over the age of twenty at diagnosis. The male to female ration was 9:5. In radiological terms, ABC appeared as an expansive lesion with internal septa and without cortical disruption. Twelve cases displayed the classic multicystic morphology and two cases were of the solid variant. "Blue bone" was detected in 50 % of the specimens. Treatment consisted of curettage, excision, or amputation in all cases. Recurrence rate was observed in 35 % of the cases, with the similar ABC morphology as the original samples. New therapeutic options have been proposed on their own or in combination with surgery to reduce local recurrence rates., Competing Interests: Declaration of competing interest The authors declare that they have no conflicts of interest., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Background: Ectomesenchymomas (EMs) are extremely rare neoplasms composed of malignant mesenchymal components and neuroectodermal derivatives. They are described in a wide variety of locations, with the head and neck region being one of the most frequently involved areas. EMs are usually managed as high-risk rhabdomyosarcomas and have similar outcomes., Methods: We present the case of a 15-year-old female with an EM that arose in the parapharyngeal space and extended into the intracranial space., Results: Histologically, the tumor presented an embryonal rhabdomyosarcomatous mesenchymal component and the neuroectodermal component was constituted by isolated ganglion cells. Next-generation sequencing (NGS) revealed a p.Leu122Arg (c.365 T > G) mutation in the MYOD1 gene, a p.Ala34Gly mutation in the CDKN2A gene, and CDK4 gene amplification. The patient was treated with chemotherapy. She died 17 months after the debut of symptoms., Conclusion(s): To our knowledge, this is the first reported case in English literature of an EM with this MYOD1 mutation. We suggest combining PI3K/ATK pathway inhibitors in these cases. NGS should be performed in EMs cases to detect mutations with potential treatment options., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Introduction: Intranodal palisaded myofibroblastoma (IPM) is an exceedingly rare benign mesenchymal tumor of the lymph nodes. Magnetic resonance imaging (MRI) findings are unspecific, which may present diagnostic challenges to fine-needle aspiration cytology (FNAC). The histological and immunohistochemical features of IPM are unique., Case Report: A previously healthy 40-year-old male patient presented a slow-growing solitary left inguinal mass. FNAC revealed clustered cells within a metachromatic stroma, single spindle cells without atypia, hemosiderin pigment, and siderophages. An MRI showed a central hyperintense septum in fat-suppressed, T2-weighted sequences. The excised lymph node contained central haphazard fascicles of spindle cells with focal nuclear palisading, hemosiderin pigment, extravasated erythrocytes, and hemorrhagic areas. Vimentin and smooth muscle actin were diffusely positive. Amianthoid collagen fibers were not clearly observed., Conclusion: IPM is an extremely rare mesenchymal benign intranodal tumor that should be included in the differential diagnosis of spindle cell lesions in the inguinal region., (© 2023 Wiley Periodicals LLC.)

Background: the association between ovarian endometriosis (OE) and endometriosis-associated ovarian cancer (EAOC) is extensively documented, and misfunction of the immune system might be involved. The primary objective of this study was to identify and compare the spatial distribution of tumour-infiltrating lymphocytes (TILs) and tumour-associated macrophages (TAMs) in OE and EAOC. Secondary objectives included the analysis of the relationship between immunosuppressive populations and T-cell exhaustion markers in both groups., Methods: TILs (CD3, CD4, and CD8) and macrophages (CD163) were assessed by immunochemistry. Exhaustion markers (PD-1, TIM3, CD39, and FOXP3) and their relationship with tumour-associated macrophages (CD163) were assessed by immunofluorescence on paraffin-embedded samples from n = 43 OE and n = 54 EAOC patients., Results: we observed a predominantly intraepithelial CD3+ distribution in OE but both an intraepithelial and stromal pattern in EAOC ( p < 0.001). TILs were more abundant in OE ( p < 0.001), but higher TILs significantly correlated with a longer overall survival and disease-free survival in EAOC ( p < 0.05). CD39 and FOXP3 significantly correlated with each other and CD163 ( p < 0.05) at the epithelial level in moderate/intense CD4 EAOC, whereas in moderate/intense CD8+, PD-1+ and TIM3+ significantly correlated ( p = 0.009). Finally, T-cell exhaustion markers FOXP3-CD39 were decreased and PD-1-TIM3 were significantly increased in EAOC ( p < 0.05)., Conclusions: the dysregulation of TILs, TAMs, and T-cell exhaustion might play a role in the malignization of OE to EAOC.

Short-chain enoyl-CoA hydratase 1 (ECHS1) is an enzyme that participates in the metabolism of valine, transforming methacrylyl-CoA in β-hydroxy-isobutyryl-CoA. There is an accumulation of intermediate acids and ammonium as a consequence of its deficit. This background generates a harmful environment for the brain causing neuronal death and severe brain lesions. We present a case of a 39 weeks newborn that died at 31 hours old. We found vacuolization in basal areas, brain stem, cerebellum and spinal cord white matter (spongiform myelinopathy). These vacuoles were periodic acid-Schiff stain negative, there were neither acompanion gliosis nor macrophagic reaction. These findings were suggestive of metabolism acid disorders. The final diagnosis was confirmed by genetic study by massive parallel sequencing, showing 2 previously described pathogenic variants (c.160C > T and c.394G > A) of short-chain enoyl-CoA hydratase 1 gene. To our knowledge, this is the first case reporting the histological changes in short-chain enoyl-CoA hydratase 1 deficiency. Histological study provides useful information to orientate the diagnostic and clarify the clinical manifestations, especially in hospitals where urine or blood samples are not taking routinely or where genetic studies may not be performed. Synopsis : The main neuropathological findings in Short-chain enoyl-CoA hydratase 1 deficiency are the presence of whitte matter vacuoles in basal areas, brain stem and spinal cord.

Fibrous hamartoma of infancy (FHI) is a very rare benign soft tissue lesion that principally affects the axilla, trunk, and upper extremities of children younger than 2 years. It is usually cured by local excision. Histologically, these lesions have a triphasic morphology in an organoid pattern: mature adipose tissue, fibroblastic/myofibroblastic trabeculae, and small round cell nests in a myxoid matrix. However, morphologic variants have recently been described. Focal areas with a pseudoangiomatous pattern have been found in some FHI, but few cases with predominant pseudoangiomatous areas have been previously described in the medical literature. We report 21 new cases of FHI, 8 of them with a predominant pseudoangiomatous pattern. Our cases with a predominant pseudoangiomatous pattern did not present specific radiological findings., Competing Interests: Declaration of competing interest The authors declare that they have no conflicts of interest., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Alveolar soft part sarcoma (ASPS) accounts for less than 1 % of all soft tissue sarcomas. ASPS presents a poor prognosis and develops frequent metastases, especially in the lungs, brain and bones. Current therapies, such as surgery, radiotherapy and chemotherapy, are not fully effective and other alternative treatments are currently being studied. ASPS is predominantly found in the deep soft tissues of the lower extremities. To our knowledge, only thirteen primary intraosseous ASPS have been reported in the literature. In this study, we report two new cases of this exceedingly rare entity. Both cases already had multiple metastases since diagnosis; one of them represents the first case of a primary bone ASPS in the ulna and is also the primary intraosseous ASPS with the longest reported case of survival, after having maintained long periods of stabilization despite not having received any systemic treatment., Competing Interests: Conflict of interest The authors declare that they have no conflicts of interest., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Calcifying aponeurotic fibroma (CAF) is a very rare benign entity that principally affects the volar fascia, tendons, and aponeuroses of the hands and feet with a peak incidence of between 5 and 15 years, although there have been cases found for a wide age range and at various anatomical sites. We present ten CAF cases; consisting of eight children and two adults. CAF occurred in the extremities in nine of the cases and in the chest wall in one case. CAF ultrasound and radiological findings are nonspecific but may help orientate diagnosis. Magnetic resonance imaging should be performed when there are doubtful cases, when occurring in nontypical sites, and when there are cases of nontypical clinical presentation. Histologically, all cases showed two components, a fibromatosis-like component and a nodular component. Chondroid areas were present in five cases. Calcifications were observed in nine cases. ERG immunostaining showed the same patterns in all the cases; diffuse positivity in pericalcified areas, and patchy positivity in areas away from calcifications. CAF has distinctive histopathological features which should aid in the differential diagnoses with other entities., Competing Interests: Declaration of competing interest The authors declare that they have no conflicts of interest., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Introduction: Papillary intralymphatic angioendothelioma (PILA) is an exceptionally rare metastasizing soft tissue tumor. It tends to arise in the subcutaneous tissues of distal extremities in children. Only four intraosseous PILA cases have been reported until now in English language literature., Case Report: We present a case of PILA arising in the distal femoral epiphysis of a 50-year-old female patient. It started as a relentless pain in her left knee. A plain radiography revealed a radiolucent area in the left internal femoral condyle. Computerized tomography revealed a 1-cm lytic lesion with a sclerotic rim. Magnetic resonance images showed a significant bone marrow edema signal focused on a 1-cm subchondral lesion suggestive of an intraarticular osteoid osteoma. Histologically, the tumor contained vascular channels covered by a single endothelial layer with intraluminal papillary endothelial structures lined with hobnail cells. Immunohistochemically, the cells were positive for ERG, CD31, and D2-40. The tumor underwent cryoablation and 6 months later, after local recurrence or tumor persistence, a wide tumor resection was referred. After 7 years of follow-up, the patient displayed neither local recurrence nor distant metastases., Conclusion: Primary intraosseous PILAs are exceedingly rare tumors that should be considered in the differential diagnosis of vascular bone tumors., Competing Interests: Declarations Conflict of interest The authors declare no competing interests., (© 2024. The Author(s), under exclusive licence to International Skeletal Society (ISS).)