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21 pages, 11891 KiB

Open AccessArticle

Congenital Tumors—Magnetic Resonance Imaging Findings with Focus on Rare Tumors

by Piotr Kwasniewicz, Julia Wieczorek-Pastusiak, Anna Romaniuk-Doroszewska and Monika Bekiesinska-Figatowska

Cancers 2024, 16(1), 43; https://doi.org/10.3390/cancers16010043 (registering DOI) - 20 Dec 2023

Viewed by 1067

Abstract

Congenital tumors are rare and, owing to this rarity, there is limited information on many of them. A total of 839 fetal and postnatal MRI studies performed in the first 3 months of life were retrospectively reviewed. They were performed with the use [...] Read more.

Congenital tumors are rare and, owing to this rarity, there is limited information on many of them. A total of 839 fetal and postnatal MRI studies performed in the first 3 months of life were retrospectively reviewed. They were performed with the use of 1.5 T scanners. Seventy-six tumors were diagnosed based on fetal MRI between 20 and 37 gestational weeks, and 27 were found after birth, from 1 day of age to 3 months of life. Teratomas were the most common tumors in our dataset, mainly in the sacrococcygeal region (SCT), followed by cardiac rhabdomyomas and subependymal giant cell astrocytomas (SEGA) associated with TSC, and neuroblastomas. The group of less common tumors consisted of infantile fibrosarcomas, malignant rhabdoid tumors, mesoblastic nephromas and Wilms tumor, craniopharyngiomas, brain stem gliomas, desmoplastic infantile astrocytoma, choroid plexus carcinoma, glioblastoma, hemangiopericytoma, rhabdomyosarcoma, melanoma, mesenchymal hamartomas of the chest wall and the liver, and juvenile xanthogranuloma, with special consideration of blue rubber bleb nevus syndrome. MRI plays a significant role in further and better characterization of congenital tumors, leading to a correct diagnosis in many cases, which is crucial for pregnancy and neonatal management and psychological preparation of the parents. No diagnosis is impossible and can be absolutely excluded. Full article

(This article belongs to the Special Issue Rare Tumors in Children: Trends in Diagnosis, Treatment and Prevention)

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12 pages, 267 KiB

Open AccessArticle

Pediatric Atypical Melanocytic Proliferations: Single-Site Retrospective Cohort Assessment of Treatment and Long-Term Follow-Up

by Emily Hatheway Marshall, Gabriella Alvarez, Bangchen Wang, Jennifer Crimmins, Michelle M. Schneider, M. Angelica Selim and Rami N. Al-Rohil

Cancers 2023, 15(24), 5804; https://doi.org/10.3390/cancers15245804 - 12 Dec 2023

Viewed by 793

Abstract

Atypical and malignant cutaneous tumors are understudied in the pediatric population, with limited data on long-term follow-up. This study examines pediatric (0–18 years) atypical melanocytic proliferations over a twenty-year period (January 2002–December2022) using the EPIC SlicerDicer at our institution. Over a twenty-year period, [...] Read more.

Atypical and malignant cutaneous tumors are understudied in the pediatric population, with limited data on long-term follow-up. This study examines pediatric (0–18 years) atypical melanocytic proliferations over a twenty-year period (January 2002–December2022) using the EPIC SlicerDicer at our institution. Over a twenty-year period, there were 55 cases of pediatric melanoma (53 patients). The median follow-up time was 8 years, 11 months. A proportion of 96% were treated with wide local excision (WLE), and 47% had a sentinel lymph node biopsy (SLNB) (35% positive rate). There were 101 atypical Spitz tumor cases (85% atypical Spitz tumors, 15% Spitz melanoma), with a median follow-up duration of 9 years. A proportion of 77% were treated with WLE (with one patient dying of metastatic disease). There were 10 cases of atypical melanocytic proliferations not otherwise specified, including 5 pigmented epithelioid melanocytomas (PEM), 4 deep-penetrating nevi, and 1 atypical cellular blue nevus. This study adds to the growing body of knowledge on pediatric atypical cutaneous melanocytic proliferations, aligning with many described characteristics such as disease location and overall survival rates, with distinct exceptions (higher melanoma positive SLNB rate, lower atypical Spitz tumor WLE rate, and a case of fatal metastatic atypical Spitz tumor). Full article

(This article belongs to the Special Issue Rare Tumors in Children: Trends in Diagnosis, Treatment and Prevention)

18 pages, 934 KiB

Open AccessArticle

Quality of Life, Clinical, and Patient-Reported Outcomes after Pencil Beam Scanning Proton Therapy Delivered for Intracranial Grade WHO 1–2 Meningioma in Children and Adolescents

by Marta García-Marqueta, Miriam Vázquez, Reinhardt Krcek, Ulrike L. Kliebsch, Katja Baust, Dominic Leiser, Michelle van Heerden, Alessia Pica, Gabriele Calaminus and Damien C. Weber

Cancers 2023, 15(18), 4447; https://doi.org/10.3390/cancers15184447 - 6 Sep 2023

Viewed by 1133

Abstract

Purpose: The purpose of this study was to report the clinical and patient-reported outcomes of children and adolescents with intracranial meningioma treated with pencil beam scanning proton therapy (PBS-PT). Material and methods: Out of a total cohort of 207 intracranial meningioma patients treated [...] Read more.

Purpose: The purpose of this study was to report the clinical and patient-reported outcomes of children and adolescents with intracranial meningioma treated with pencil beam scanning proton therapy (PBS-PT). Material and methods: Out of a total cohort of 207 intracranial meningioma patients treated with PBS-PT between 1999 and 2022, 10 (4.8%) were children or adolescents aged < 18 years. Median age was 13.9 years (range, 3.2–17.2). Six (60%) children were treated as primary treatment (postoperative PT, n = 4; exclusive PT, n = 2) and four (40%) at the time of tumor recurrence. Acute and late toxicities were registered according to Common Terminology Criteria of Adverse Events (CTCAE). Quality of life (QoL) before PBS-PT was assessed using PEDQOL questionnaires. Educational, functional, and social aspects after PT were assessed through our in-house developed follow-up surveys. Median follow-up time was 71.1 months (range, 2.5–249.7), and median time to last questionnaire available was 37.6 months (range, 5.75–112.6). Results: Five (50%) children developed local failure (LF) at a median time of 32.4 months (range, 17.7–55.4) after PBS-PT and four (80%) were considered in-field. One patient died of T-cell lymphoma 127.1 months after PBS-PT. Estimated 5-year local control (LC) and overall survival (OS) rates were 19.4% and 100.0%, respectively. Except for one patient who developed a cataract requiring surgery, no grade ≥3 late toxicities were reported. Before PT, patients rated their QoL lower than their parents in most domains. During the first year after PT, one child required educational support, one needed to attend to a special school, one had social problems and another three children required assistance for daily basic activities (DBA). Three years after PT, only one child required assistance for DBA. Conclusions: The outcome of children with intracranial meningioma treated with PBS-PT is in line with other centers who have reported results of radiation therapy delivered to this particular patient group. This therapy provides acceptable functional status profiles with no high-grade adverse radiation-induced events. Full article

(This article belongs to the Special Issue Rare Tumors in Children: Trends in Diagnosis, Treatment and Prevention)

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16 pages, 1638 KiB

Open AccessArticle

DICER1 Syndrome: A Multicenter Surgical Experience and Systematic Review

by Claudio Spinelli, Marco Ghionzoli, Linda Idrissi Sahli, Carla Guglielmo, Silvia Frascella, Silvia Romano, Carlo Ferrari, Fabrizio Gennari, Giovanni Conzo, Riccardo Morganti, Luigi De Napoli, Lucia Quaglietta, Lucia De Martino, Stefania Picariello, Anna Grandone, Caterina Luongo, Antonella Gambale, Armando Patrizio, Poupak Fallahi, Alessandro Antonelli and Silvia Martina Ferrari Show full author list Hide full author list

Cancers 2023, 15(14), 3681; https://doi.org/10.3390/cancers15143681 - 19 Jul 2023

Cited by 2 | Viewed by 1198

Abstract

DICER1 syndrome is a rare genetic disorder that predisposes patients to the development of malignant and non-malignant diseases. Presently, DICER1 syndrome diagnosis still occurs late, usually following surgical operations, affecting patients’ outcomes, especially for further neoplasms, which are entailed in this syndrome. For [...] Read more.

DICER1 syndrome is a rare genetic disorder that predisposes patients to the development of malignant and non-malignant diseases. Presently, DICER1 syndrome diagnosis still occurs late, usually following surgical operations, affecting patients’ outcomes, especially for further neoplasms, which are entailed in this syndrome. For this reason, herein we present a multicenter report of DICER1 syndrome, with the prospective aim of enhancing post-surgical surveillance. A cohort of seven patients was collected among the surgical registries of Pediatric Surgery at the University of Pisa with the General and Oncologic Surgery of Federico II, University of Naples, and the Pediatric Surgery, Regina Margherita Hospital, University of Turin. In each case, the following data were analyzed: sex, age at diagnosis, age at first surgery, clinical features, familial, genetic investigations, and follow-up. A comprehensive literature review of DICER1 cases, including case reports and multicenter studies published from 1996 to June 2022, was performed. Eventually, the retrieved data from the literature were compared with the data emerging from our cohort of patients. Full article

(This article belongs to the Special Issue Rare Tumors in Children: Trends in Diagnosis, Treatment and Prevention)

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12 pages, 772 KiB

Open AccessArticle

Intracranial Germinoma—Association between Delayed Diagnosis, Altered Clinical Manifestations, and Prognosis

by Iwona Jabłońska, Marcin Goławski, Elżbieta Nowicka, Katarzyna Drosik-Rutowicz, Anna Trybus, Rafał Tarnawski and Marcin Miszczyk

Cancers 2023, 15(10), 2789; https://doi.org/10.3390/cancers15102789 - 17 May 2023

Cited by 1 | Viewed by 1276

Abstract

Background: Intracranial germinoma is a rare malignant neoplasm of the central nervous system (CNS) that occurs in children and young adults. The aim of our study was to assess the initial manifestation of the disease, and to find differences in outcomes dependent on [...] Read more.

Background: Intracranial germinoma is a rare malignant neoplasm of the central nervous system (CNS) that occurs in children and young adults. The aim of our study was to assess the initial manifestation of the disease, and to find differences in outcomes dependent on time of diagnosis. Methods: The study group consisted of 35 consecutive patients (adults and children) who were treated for intracranial germinoma with radiotherapy at a tertiary centre, and their data were retrospectively collected. We evaluated time from the first symptoms to diagnosis and divided patients into early and delayed diagnosis groups. Delayed diagnosis has been defined as the time from initial presentation to final diagnosis longer than six months. Results: A total of 17 (48.6%) of the patients had delayed diagnoses. Patient survival data spanned a median of six (interquartile range 3–12) years. At the time of the diagnosis, patients presented exclusively neurological symptoms in 16 (45.7%) cases, exclusively endocrinological symptoms in five (14.3%) cases, and mixed symptoms in the remaining cases (n = 14; 40.0%). Patients with neurological symptoms had shorter time (p < 0.001) from first symptoms to the final diagnosis (5.91 months) than in patients without them (19.44 months). The delayed diagnosis group presented significantly smaller tumour size (mean maximal dimension 2.35 cm) compared to early diagnosis group (3.1 cm). The 5-year and 10-year survival rates of our patients were 94.3% and 83.4%, respectively. Patients with a delayed diagnosis (n = 17) had a significantly worse (p = 0.02) 10-year OS (63%) compared to the early diagnosis group (n = 18; OS = 100%). Importantly, in five patients (14.29%), initial manifestation occurred before radiological signs of the disease. Conclusion: Our study stresses the need for timely diagnosis in intracranial germinoma, as a delay has a significant impact on the prognosis. In particular, if the tumour is small or causes exclusively endocrinological symptoms, the diagnosis may be difficult and delayed. Full article

(This article belongs to the Special Issue Rare Tumors in Children: Trends in Diagnosis, Treatment and Prevention)

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20 pages, 1090 KiB

Open AccessArticle

Growth Hormone Replacement Therapy Seems to Be Safe in Children with Low-Grade Midline Glioma: A Series of 124 Cases with Review of the Literature

by Coline Puvilland, Carine Villanueva, Anaëlle Hemmendinger, Laure Kornreich, Iva Gueorguieva, Mélodie-Anne Karnoub, Pierre Aurélien Beuriat and Pierre Leblond

Cancers 2023, 15(1), 55; https://doi.org/10.3390/cancers15010055 - 22 Dec 2022

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Abstract

There is little scientific evidence regarding the safety of GHRT in LGG, where GH deficiency is common. Purpose: to compare the recurrence rate in children with midline LGG, depending on whether or not they have received GHRT, in order to assess its impact [...] Read more.

There is little scientific evidence regarding the safety of GHRT in LGG, where GH deficiency is common. Purpose: to compare the recurrence rate in children with midline LGG, depending on whether or not they have received GHRT, in order to assess its impact on the risk of tumor recurrence. Methods: This bicentric retrospective study included 124 patients under the age of 18 who were diagnosed with a midline low-grade glial tumor between 1998 and 2016. We also reviewed literature on this subject. The main outcome measure was tumor relapse, demonstrated by brain MRI. Results: There were 17 patients in the GH-supplemented group (14%) and 107 patients in the non-supplemented group (86%). Relapse occurred in 65 patients (45.5%); 7 patients died (4.9%); no deaths occurred in patients receiving GHRT. Two patients developed a second tumor (1.4%), none of which had received GHRT. Relapse concerned 36.4% of patients without GHRT and 52.9% of patients with GHRT. The difference was not statistically significant between the two groups (p = 0.3). Conclusion: GHRT does not lead to a statistically significant increase in risk of relapse for pediatric midline low-grade pediatric glioma in our cohort. Although these results appear reassuring, future natural history or prospective studies should be done to ascertain these findings. Nevertheless, these reassuring data regarding GHRT are in agreement with the data in the current literature. Full article

(This article belongs to the Special Issue Rare Tumors in Children: Trends in Diagnosis, Treatment and Prevention)

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12 pages, 2163 KiB

Open AccessArticle

Induction Regimen in High-Risk Neuroblastoma: A Pilot Study of Highly Effective Continuous Exposure of Tumor Cells to Radio-Chemotherapy Sequence for 1 Month. The Critical Role of Iodine-131-Metaiodobenzylguanidine

by Stefano Mastrangelo, Giorgio Attinà, Luca Zagaria, Alberto Romano and Antonio Ruggiero

Cancers 2022, 14(20), 5170; https://doi.org/10.3390/cancers14205170 - 21 Oct 2022

Cited by 3 | Viewed by 1307

Abstract

The prognosis of high-risk neuroblastoma (NB) continues to be poor. The early development of resistance often leads to disease recurrence. In the present study, an innovative induction regimen, including an intensive initial radio-chemotherapy sequence based on the use of iodine-131-metaiodobenzylguanidine (131-I-MIBG), was investigated. [...] Read more.

The prognosis of high-risk neuroblastoma (NB) continues to be poor. The early development of resistance often leads to disease recurrence. In the present study, an innovative induction regimen, including an intensive initial radio-chemotherapy sequence based on the use of iodine-131-metaiodobenzylguanidine (131-I-MIBG), was investigated. The duration of the regimen lasted only one month. Fifteen newly diagnosed patients aged >18 months with high-risk NB were treated with cisplatin, etoposide, cyclophosphamide, and vincristine, followed on day 10 by 131-I-MIBG (dose: 12–18.3 mCi/kg). Cisplatin and vincristine were administered on day 20 and 21 followed by the re-administration of vincristine, cyclophosphamide, and doxorubicin on day 29 and 30. Non-hematologic toxicity was not observed. Moderate hematologic toxicity was present probably attributable to chemotherapy. The evaluation of response was performed approximately 50 days after the initiation of treatment, yielding four complete responses, eight very good partial responses, one partial response, and two non-responses. Importantly, a complete metastatic response was achieved in 87% of patients. The present pilot study, which includes 131-I-MIBG, allows for a highly effective continuous exposure of tumor cells to both chemotherapy and radiotherapy. Furthermore, early high-dose chemotherapy followed by stem cell rescue may achieve high levels of tumor cell clearance and improve the prognosis of high-risk NB. Full article

(This article belongs to the Special Issue Rare Tumors in Children: Trends in Diagnosis, Treatment and Prevention)

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Review

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27 pages, 1251 KiB

Open AccessReview

Rare Hematologic Malignancies and Pre-Leukemic Entities in Children and Adolescents Young Adults

by Amber Brown and Sandeep Batra

Cancers 2024, 16(5), 997; https://doi.org/10.3390/cancers16050997 - 29 Feb 2024

Viewed by 912

Abstract

There are a variety of rare hematologic malignancies and germline predispositions syndromes that occur in children and adolescent young adults (AYAs). These entities are important to recognize, as an accurate diagnosis is essential for risk assessment, prognostication, and treatment. This descriptive review summarizes [...] Read more.

There are a variety of rare hematologic malignancies and germline predispositions syndromes that occur in children and adolescent young adults (AYAs). These entities are important to recognize, as an accurate diagnosis is essential for risk assessment, prognostication, and treatment. This descriptive review summarizes rare hematologic malignancies, myelodysplastic neoplasms, and germline predispositions syndromes that occur in children and AYAs. We discuss the unique biology, characteristic genomic aberrations, rare presentations, diagnostic challenges, novel treatments, and outcomes associated with these rare entities. Full article

(This article belongs to the Special Issue Rare Tumors in Children: Trends in Diagnosis, Treatment and Prevention)

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13 pages, 264 KiB

Open AccessReview

Treatment of Undifferentiated Embryonal Sarcoma of the Liver in Children

by Wen-Ya Lin, Kang-Hsi Wu, Chun-Yu Chen, Bei-Cyuan Guo, Yu-Jun Chang, Mao-Jen Lin and Han-Ping Wu

Cancers 2024, 16(5), 897; https://doi.org/10.3390/cancers16050897 - 23 Feb 2024

Viewed by 974

Abstract

Undifferentiated embryonal sarcoma of the liver is a rare mesenchymal tumor with a highly malignant potential. It occurs almost exclusively in the pediatric population and typically has a poor outcome. Although previous studies have reported dismal prognoses, recent advances in combined treatment modalities, [...] Read more.

Undifferentiated embryonal sarcoma of the liver is a rare mesenchymal tumor with a highly malignant potential. It occurs almost exclusively in the pediatric population and typically has a poor outcome. Although previous studies have reported dismal prognoses, recent advances in combined treatment modalities, e.g., surgery and chemotherapy, have given cause for optimism. Even in those diseases not amenable to complete surgical resection or refractory diseases, other treatment modalities, such as liver transplant, have yielded promising results. This paper provides a review of the current treatment modalities for hepatic undifferentiated embryonal sarcoma in children. Full article

(This article belongs to the Special Issue Rare Tumors in Children: Trends in Diagnosis, Treatment and Prevention)

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