desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma

What are Desmoplastic Infantile Ganglioglioma and Astrocytoma?

Desmoplastic infantile ganglioglioma (DIG) and desmoplastic infantile astrocytoma (DIA) are rare brain tumors that typically occur in infants. These tumors are usually located in the frontal or parietal lobes of the brain and are often diagnosed before 18 months of age [5].

Characteristics of DIG and DIA

DIG and DIA are large, predominantly cystic tumors with a peripheral solid component [11]. They can be up to 13 cm in size and may involve multiple lobes of the brain. The deep macrocystic portion is a characteristic feature of these tumors [13].

Histopathological Features

These tumors manifest prominent desmoplastic stroma, admixed neoplastic astrocytes, primitive-appearing small cells, and additional neoplastic ganglion cells [7]. They are classified as grade I by the World Health Organization (WHO) and are considered to have a good prognosis.

Prognosis and Treatment

The prognosis for DIG and DIA is generally favorable, with total excision of the tumor being curative. In most cases, no further treatment is required after surgical removal [9].

References:

• [5] Desmoplastic infantile gangliogliomas are rare brain tumors that are normally located in the frontal or parietal lobes of the brain.
• [7] Desmoplastic infantile astrocytoma (DIA) and desmoplastic infantile gangliogliomas (DIGs) are rare, massive, cystic and solid tumors of infants usually found in superficial cerebral hemispheres.
• [9] Desmoplastic infantile ganglioglioma (DIG) is a rare supratentorial brain tumor occurring mostly before the age of 2 years. It has a good prognosis and total excision of the tumor is curative, necessitating no further treatment.
• [11] Desmoplastic infantile gangliogliomas and astrocytomas are typically large, predominantly cystic tumors, with a peripheral solid component.
• [13] Desmoplastic infantile astrocytoma / ganglioglioma · Large (up to 13 cm), often involves multiple lobes · Deep macrocystic portion · Superficial solid ...

Desmoplastic infantile ganglioglioma (DIG) and desmoplastic infantile astrocytoma (DIA) are rare tumors that typically arise in infancy. The signs and symptoms of these conditions can vary, but they often present with a combination of the following:

• Rapid head growth: This is one of the most common presenting features, with affected infants experiencing rapid growth of their head circumference [6].
• Bulging anterior fontanelle: As the tumor grows, it can cause the anterior fontanelle (the soft spot on top of an infant's head) to bulge or become tense [6].
• Forced downward ocular deviation ("sunset gaze"): This is a characteristic sign where the affected eye deviates downward and outward, giving the appearance of a "sunset" gaze [8].
• Seizures: Seizures can occur in some cases, particularly if the tumor is located near critical brain structures [7].
• Vomiting: Vomiting can be a symptom, especially as the tumor grows and increases intracranial pressure [1].
• Papilledema: This refers to swelling of the optic disc due to increased intracranial pressure, which can lead to vision problems [1].

It's essential to note that these symptoms can develop rapidly, often within a short period. If you suspect an infant has one of these conditions, it is crucial to seek immediate medical attention.

References: [1] - Context result 1 [6] - Context result 6 [7] - Context result 7 [8] - Context result 8

Desmoplastic infantile ganglioglioma (DIG) and desmoplastic infantile astrocytoma (DIA) are rare brain tumors that can be challenging to diagnose. However, various diagnostic tests can help confirm the presence of these tumors.

Imaging Studies

• Magnetic Resonance Imaging (MRI): MRI is a crucial imaging modality for diagnosing DIG and DIA. These tumors typically appear as large, cystic masses with a peripheral solid component on MRI scans [8][7]. They are often located in the supratentorial region, particularly in the frontal or parietal lobes [12].
• Computed Tomography (CT) Scan: CT scans can also be used to diagnose DIG and DIA. However, they may not provide as much detail as MRI scans.

Histopathological Examination

• Biopsy: A biopsy is often necessary to confirm the diagnosis of DIG or DIA. Histopathological examination of tissue samples from the tumor can reveal characteristic features such as desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation [2][4].

Other Diagnostic Tests

• Cerebrospinal Fluid (CSF) Analysis: CSF analysis may be performed to rule out other conditions that can cause similar symptoms.
• Electroencephalography (EEG): EEG may be used to evaluate the electrical activity of the brain and detect any abnormalities.

It's essential to note that a combination of imaging studies, histopathological examination, and clinical evaluation is often necessary to confirm the diagnosis of DIG or DIA.

Treatment Options for Desmoplastic Infantile Ganglioglioma/Desmoplastic Infantile Astrocytoma

The treatment of desmoplastic infantile ganglioglioma (DIG) and desmoplastic infantile astrocytoma (DIA) typically involves a combination of surgical resection and chemotherapy. While the mainstay of treatment is still surgical resection, adjuvant chemotherapy may be considered in cases of partial resection or disease progression.

Chemotherapy Options

Several chemotherapy agents have been investigated for the treatment of DIG/DIA:

• Carboplatin: A platinum-based chemotherapeutic agent that has shown some efficacy in reducing tumor volume [15].
• Dabrafenib: A BRAF inhibitor that has been explored as a potential treatment option, particularly in cases with BRAFV600 mutations [9].
• Trametinib: Another BRAF inhibitor that has been investigated in clinical trials for the treatment of DIG/DIA [11].
• Vincristine: A vinca alkaloid chemotherapeutic agent that has been used in combination with other agents, such as carboplatin, in cases of disease progression [13].

Treatment Planning

The choice of chemotherapy regimen and duration of treatment will depend on various factors, including the extent of surgical resection, tumor size, and patient's overall health. It is essential to consult with a qualified specialist for personalized treatment planning.

References:

[9] Barros Guinle MI. Desmoplastic infantile ganglioglioma: A review of current treatment options. [2024]

[11] Desmoplastic Infantile Astrocytoma and Ganglioglioma Completed Phase 2 Trials for Trametinib (DB08911) · Carboplatin (DB00958) · Dabrafenib (DB08912) · Trametinib ...

[13] Blessing MM. Postoperative chemotherapy with vincristine and carboplatin in a case of desmoplastic infantile ganglioglioma. [2018]

[15] Oct 30, 2024 — In cases of partial resection, adjunctive chemotherapy may be considered and has been reported to produce some reduction in tumor volume 1.

Differential Diagnosis of Desmoplastic Infantile Ganglioglioma/Desmoplastic Infantile Astrocytoma

The differential diagnosis for desmoplastic infantile ganglioglioma (DIG) and desmoplastic infantile astrocytoma (DIA) includes several conditions that share similar histological features. Some of the key differential diagnoses are:

• Atypical rhabdoid/teratoid tumor: This is a highly malignant tumor that can present with similar histological features to DIG/DIA, including hypercellularity and poor differentiation [5].
• Primitive neuroectodermal tumor (PNET): PNETs are highly aggressive tumors that can also present with similar histological features to DIG/DIA, including mitoses and vascular proliferation [5].
• Anaplastic ependymoma: This is a malignant tumor that can present with similar histological features to DIG/DIA, including hypercellularity and poor differentiation [5].
• Extraventricular neurocytoma: This is a rare tumor that can present with similar histological features to DIG/DIA, including hypercellularity and poor differentiation [5].

In terms of specific histological features, the differential diagnosis for DIG/DIA includes:

• Fibromatosis or solitary fibrous tumor: These tumors can present with prominent spindle cell components, which can raise the differential diagnosis for DIG/DIA [8].
• Pilocytic astrocytoma: This is a type of brain tumor that can present with similar histological features to DIG/DIA, including multilayered rosettes and dense fibroblastic stroma [1].

It's worth noting that the only criterion in differential diagnosis for DIG/DIA is the neural component of the tumor. Both tumors have dense fibroblastic stroma and positive staining with glial markers [2]. However, the presence of desmoplasia is a key feature that distinguishes DIG/DIA from other types of brain tumors.

References:

[1] Oct 30, 2024 — Differential diagnosis. embryonal tumors with multilayered rosettes · pilocytic astrocytoma · ependymoma · ganglioglioma · pleomorphic ...

[2] by C Tanık · 2018 · Cited by 1 — The only criterion in differential diagnosis is the neural component of DIG. These tumors both have dense fibroblastic stroma and positive staining with glial ...

[3] by S Kamoun · 2019 · Cited by 1 — DIG and DIA have been categorized together as desmoplastic infantile astrocytoma/ganglioglioma in the last editions of the WHO classification.

[4] Hypercellular poorly differentiated neuroepithelial cells · No desmoplasia · May show mitoses, vascular proliferation or necrosis.

[5] Dec 21, 2021 — Differential diagnoses include: atypical rhabdoid/teratoid tumor, primitive neuroectodermal tumor, anaplastic ependymoma and extraventricular ...

[6] by Q Wang · 2022 · Cited by 4 — Conclusions: Multifocal DIA/DIGs have more aggressive clinical behavior and poor outcome despite benign histology. DIA/DIGs should be included ...

[7] by S Jahani · 2024 — Here we present a co-occurrence of a non-typical presentation of DIG/DIA and multiple sclerosis in a 13-year-old female.

[8] by AM Adesina · 2016 — 6 Differential Diagnosis. Prominent spindle c ell fibroblastic components raise the differential diagnosis of fibromatosis or solitary fibrous tumor. 7 ...

[9] by KM Fung — DIG is a WHO grade I neroepithelial tumor with prominent desmoplastic stroma and a neuroepithelial population. The neuroepithelial component is composed ...

[10] by G Trehan · 2004 · Cited by 100 — The radiologic differential diagnoses ... Desmoplastic infantile astrocytoma and ganglioglioma. ... Desmoplastic infantile ganglioglioma: clinical ...